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1. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

Author: Esteller, Diana, Schiava, Marianela, Verdú-Díaz, José, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., and Díaz-Manera, Jordi
Published: 2023
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2. Myasthenia gravis treatment in the elderly presents with a significant iatrogenic risk: a multicentric retrospective study

Author: Chanson, Jean-Baptiste, Bouhour, Françoise, Aubé-Nathier, Anne-Catherine, Mallaret, Martial, Vial, Christophe, Hacquard, Aurélien, Petiot, Philippe, Spinazzi, Marco, Nadaj-Pakleza, Aleksandra, and Echaniz-Laguna, Andoni
Published: 2023
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3. Self-reported outcomes and quality of life of patients with non-dystrophic myotonia: The French IMPACT 2022 survey

Author: Vicart, S., Péréon, Y., Ghorab, K., Pegat, A., Dufresne, R., Zozulya-Weidenfeller, A., Noury, J.-B., Nadaj-Pakleza, A., Tard, C., and Sacconi, S.
Published: 2024
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4. Defining the landscape of TIA1 and SQSTM1 digenic myopathy

Author: Panos-Basterra, Paula, Theuriet, Julian, Nadaj-Pakleza, Aleksandra, Magot, Armelle, Lannes, Beatrice, Marcorelles, Pascale, Behin, Anthony, Masingue, Marion, Caillon, Florence, Malek, Yannis, Fenouil, Tanguy, Bas, Joaquim, Menassa, Rita, Michel-Calemard, Laurence, Streichenberger, Nathalie, Simon, Jean-Philippe, Bouhour, Francoise, Evangelista, Teresinha, Métay, Corinne, Pegat, Antoine, Stojkovic, Tanya, and Fernández-Eulate, Gorka
Published: 2024
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5. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis

Author: Esteller, Diana, Schiava, Marianela, Verdú-Díaz, José, Villar-Quiles, Rocío-Nur, Dibowski, Boris, Venturelli, Nadia, Laforet, Pascal, Alonso-Pérez, Jorge, Olive, Montse, Domínguez-González, Cristina, Paradas, Carmen, Vélez, Beatriz, Kostera-Pruszczyk, Anna, Kierdaszuk, Biruta, Rodolico, Carmelo, Claeys, Kristl, Pál, Endre, Malfatti, Edoardo, Souvannanorath, Sarah, Alonso-Jiménez, Alicia, de Ridder, Willem, De Smet, Eline, Papadimas, George, Papadopoulos, Constantinos, Xirou, Sofia, Luo, Sushan, Muelas, Nuria, Vilchez, Juan J., Ramos-Fransi, Alba, Monforte, Mauro, Tasca, Giorgio, Udd, Bjarne, Palmio, Johanna, Sri, Srtuhi, Krause, Sabine, Schoser, Benedikt, Fernández-Torrón, Roberto, López de Munain, Adolfo, Pegoraro, Elena, Farrugia, Maria Elena, Vorgerd, Mathias, Manousakis, Georgious, Chanson, Jean Baptiste, Nadaj-Pakleza, Aleksandra, Cetin, Hakan, Badrising, Umesh, Warman-Chardon, Jodi, Bevilacqua, Jorge, Earle, Nicholas, Campero, Mario, Díaz, Jorge, Ikenaga, Chiseko, Lloyd, Thomas E., Nishino, Ichizo, Nishimori, Yukako, Saito, Yoshihiko, Oya, Yasushi, Takahashi, Yoshiaki, Nishikawa, Atsuko, Sasaki, Ryo, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Stojkovic, Tanya, Carlier, Robert Y., and Díaz-Manera, Jordi
Published: 2024
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6. Safety and efficacy of rozanolixizumab in patients with generalised myasthenia gravis (MycarinG): a randomised, double-blind, placebo-controlled, adaptive phase 3 study

Author: Genge, Angela, Massie, Rami, Berube, Maxime, Bril, Vera, Daniyal, Lubna, Mannan, Shabber, Ng, Eduardo, Raman, Ritesh Rohan Raghu, Sarpong, Evelyn, Alcantara, Monica, Dionne, Annie, Siddiqi, Zaeem, Blackmore, Derrick, Hussain, Faraz, Matte, Genevieve, Botez, Stephan, Tyblova, Michaela, Jakubikova, Michala, Junkerova, Jana, Vissing, John, Witting, Nanna, Holm-Yildiz, Sonja, Stemmerik, Mads, Andersen, Henning, Obál, Izabella, Solé, Guilhem, Mathis, Stéphane, Violleau, Marie-Hélène, Tranchant, Christine, Messai, Sihame, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Verloes, Arnaud, Zaidi, Leila, Sacconi, Sabrina, Gambella, Manuela, Cavalli, Michele, Stojkovic, Tanya, Demeret, Sophie, Le Guennec, Loic, Querin, Giorgia, Weiss, Nicolas, Masingue, Marion, Magy, Laurent, Ghorab, Karima, Rukhadze, Ia, Tsiskaridze, Alexander, Janelidze, Marina, Margania, Temur, Then Bergh, Florian, Hänsel, Eike, Kalb, Andrea, Meilick, Bianca, Reuschel, Mandy, Teußer, Lars-Malte, Unterlauft, Astrid, Goedel, Clemens, Hagenacker, Tim, Totzeck, Andreas, Stolte, Benjamin, Blaes, Franz, Bindler, Christine, Tsoutsikas, Vasilios, Roediger, Annekathrin, Geis, Christian, Schmidt, Jens, Zschüntzsch, Jana, Schwarz, Margret, Meyer, Stefanie, Kummer, Karsten, Glaubitz, Stefanie, Zeng, Rachel, Wiendl, Heinz, Klotz, Luisa, Lammerskitten, Anna, Lünemann, Jan, Diószeghy, Péter, Mantegazza, Renato, Maggi, Lorenzo, Rinaldi, Elena, Gastaldi, Matteo, Mazzacane, Federico, Businaro, Pietro, Iorio, Raffaele, Antonini, Giovanni, Fionda, Laura, Rinaldi, Rita, Rossi, Simone, Habetswallner, Francesco, Tuccillo, Francesco, Umehara, Haruna, Uenaka, Eiko, Takahashi, Masanori, Higashi, Keiko, Kinoshita, Makoto, Yoneda, Emika, Nakamura, Noriko, Fujita, Saeka, Kubota, Tomoya, Ono, Masami, Yamamoto, Sana, Hatano, Taku, Oikoshi, Kazuki, Yokoyama, Kazumasa, Oji, Yutaka, Tomizawa, Yuji, Uzawa, Akiyuki, Yasuda, Manato, Akita, Sachiko, Ozawa, Yukiko, Onishi, Yosuke, Takaki, Miki, Yamada, Hiromi, Minemoto, Kanako, Sanko, Miki, Izawa, Nanae, Nakayama, Mayumi, Masuda, Masayuki, Tsuji, Rune, Ido, Nobuhiro, Hyodo, Yumi, Okubo, Yoshihiko, Minohara, Akiko, Haraguchi, Nana, Naito, Makiko, Yoshida, Seiko, Fukushige, Yuri, Tsujino, Akira, Nagaoka, Atsushi, Miyazaki, Teiichiro, Yoshimura, Shunsuke, Hirayama, Takuro, Shima, Tomoaki, Okamoto, Naoko, Matsumoto, Riki, Sekiguchi, Kenji, Ueda, Takehiro, Chihara, Norio, Kirimura, Mari, Sunagawa, Emi, Suzuki, Ayaka, Suzuki, Shigeaki, Wada, Aozora, Ishizuchi, Kei, Suzuki, Yasushi, Yata, Mitsuo, Komatsu, Yuka, Tsukita, Kenichi, Watanabe, Genya, Sato, Kazuki, Kawasaki, Emiko, Yamamoto, Naoki, Ono, Hirohiko, Tsuda, Tomoko, Ohashi, Shigeki, Utsugisawa, Kimiaki, Fujisawa, Yuka, Yokota, Yumiko, Nagane, Yuriko, Ayumi, Kameda, Takematsu, Yuka, Naito, Hiroyuki, Sugimoto, Takamichi, Kuwada, Kumiko, Rejdak, Konrad, Szklener, Sebastian, Kitowska, Monika, Derkacz, Kandyda, Druzdz, Artur, Berkowicz, Tomasz, Budzinska, Paulina, Halas, Marek, Zaslavskiy, Leonid, Skornyakova, Evgeniya, Kotov, Sergey, Novikova, Ekaterina, Sidorova, Olga, Goldobin, Vitalii, Alekseeva, Tatiana, Isabekova, Patimat, Malkova, Nadezhda, Korobko, Denis, Djordjevic, Gordana, Stojanov, Aleksandar, Peric, Stojan, Lavrnic, Dragana, Bozovic, Ivo, Palibrk, Aleksa, Casasnovas, Carlos, Nedkova-Hristova, Velina, Vidal Fernández, Nuria, Cortés Vicente, Elena, Querol Gutiérrez, Luis, Salvadó Figueras, Maria, Canovas Segura, Anna, Juntas Morales, Raúl, Sanchez Tejerina, Daniel, Saiz, Albert, Blanco Morgado, Yolanda, Llufriú Durán, Sara, Sepúlveda Gázquez, María, Martínez Hernández, Eugenia María, Gutiérrez Gutiérrez, Gerardo, Iniesta, Paqui, Meca Lallana, José, Guo, Yuh-Cherng, Chiu, Hou-Chang, Yeh, Jiann-Horng, Chen, Ya Hui, Lee, Mei Fen, Lee, Yi-Chung, Lai, Kuan Lin, Beydoun, Said, Akhter, Salma, Vu, Tuan, Lam, Lucy, Thomas, Alisha, Rivner, Michael, Quarles, Brandy, Lange, Dale, Holzberg, Shara, Pavlakis, Pantelis, Goutham, Ashwathy, Kaminski, Henry, Aly, Radwa, Ashworth, Lisa, Bender, Kathryn, Bond, Karie, Buckner, Joanne, Byerly, Sara, Caress, James, Clemons, Jessyca, Farmer, Asha, Franklin, Catherine, Harris, Summer, Hiatt, Meredith, Gandhi Mehta, Rachana, Miller, Gina, Smith, Lynn, Smith, Rose, Strittmatter, Brian, Mozaffar, Tahseen, Habib, Ali A, Hernandez, Isela, Moulton, Kelsey, Karam, Chafic, Ravikumar, Pranali, Lomen-Hoerth, Catherine, Rosow, Laura, George, Hannah, Irodenko, Viktoriya, Kang, Min, Denny, Carol, Hanson, Bart, Klein, Sara, Martinez-Thompson, Jennifer, Naddaf, Elie, Padgett, Denny, Sorenson, Eric, L Sultze, Jane, Weis, Delena, Rezania, Kourosh, Thonhoff, Jason, Shroff, Sheetal, Pascuzzi, Robert, Micheels, Angela, Bodkin, Cynthia, Comer, Adam, Baras, Gelasio, Wagner, Renee, Mahuwala, Zabeen, Ryan, Stephen, Su, Kai, Sharma, Khema, Brown, Andrew, Liow, Kore, Drużdż, Artur, Grosskreutz, Julian, Boehnlein, Marion, Bozorg, Ali, Gayfieva, Maryam, Greve, Bernhard, Woltering, Franz, and Kaminski, Henry J
Published: 2023
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7. Safety and efficacy of zilucoplan in patients with generalised myasthenia gravis (RAISE): a randomised, double-blind, placebo-controlled, phase 3 study

Author: Sembinelli, Dylan, Teitelbaum, Jeanne, Nicolle, Michael, Bernard, Emilien, Svahn, Juliette, Spinazzi, Marco, Stojkovic, Tanya, Demeret, Sophie, Weiss, Nicolas, Le Guennec, Loïc, Messai, Sihame, Tranchant, Christine, Nadaj-Pakleza, Aleksandra, Chanson, Jean-Baptiste, Suliman, Muhtadi, Zaidi, Leila, Tard, Celine, Lecointe, Peggy, Zschüntzsch, Jana, Schmidt, Jens, Glaubitz, Stefanie, Zeng, Rachel, Scholl, Matthias, Kowarik, Markus, Ziemann, Ulf, Krumbholz, Markus, Martin, Pascal, Ruschil, Christoph, Dünschede, Jutta, Kemmner, Roswitha, Rumpel, Natalie, Berger, Benjamin, Totzeck, Andreas, Hagenacker, Tim, Stolte, Benjamin, Iorio, Raffaele, Evoli, Amelia, Falso, Silvia, Antozzi, Carlo, Frangiamore, Rita, Vanoli, Fiammetta, Rinaldi, Elena, Deguchi, Kazushi, Minami, Naoya, Nagane, Yuriko, Suzuki, Yasushi, Ishida, Sayaka, Suzuki, Shigeaki, Nakahara, Jin, Nagaoka, Astushi, Yoshimura, Shunsuke, Konno, Shingo, Tsuya, Youko, Uzawa, Akiyuki, Kubota, Tomoya, Takahashi, Masanori, Okuno, Tatsusada, Murai, Hiroyuki, Gilhus, Nils Erik, Boldingh, Marion, Rønning, Tone Hakvåg, Chyrchel-Paszkiewicz, Urszula, Kumor, Klaudiusz, Zielinski, Tomasz, Banaszkiewicz, Krzysztof, Błaż, Michał, Kłósek, Agata, Świderek-Matysiak, Mariola, Szczudlik, Andrzej, Paśko, Aneta, Szczechowski, Lech, Banach, Marta, Ilkowski, Jan, Kapetanovic Garcia, Solange, Ortiz Bagan, Patricia, Belén Cánovas Segura, Ana, Turon Sans, Joana, Vidal Fernandez, Nuria, Cortes Vicente, Elena, Rodrigo Armenteros, Patricia, Ashraghi, Mohammad, Cavey, Ana, Haslam, Liam, Emery, Anna, Liow, Kore, Yegiaian, Sharon, Barboi, Alexandru, Vazquez, Rosa Maria, Lennon, Joshua, Pascuzzi, Robert M, Bodkin, Cynthia, Guingrich, Sandra, Comer, Adam, Bromberg, Mark, Janecki, Teresa, Saba, Sami, Tellez, Marco, Elsheikh, Bakri, Freimer, Miriam, Heintzman, Sarah, Govindarajan, Raghav, Guptill, Jeffrey, Massey, Janice M, Juel, Vern, Gonzalez, Natalia, Habib, Ali A, Mozaffar, Tahseen, Korb, Manisha, Goyal, Namita, Machemehl, Hannah, Manousakis, Georgios, Allen, Jeffrey, Harper, Emily, Farmakidis, Constantine, Saavedra, Lilli, Dimachkie, Mazen, Pasnoor, Mamatha, Akhter, Salma, Beydoun, Said, McIlduff, Courtney, Nye, Joan, Roy, Bhaskar, Munro Sheldon, Bailey, Nowak, Richard, Barnes, Benjamin, Rivner, Michael, Suresh, Niraja, Shaw, Jessica, Harvey, Brittany, Lam, Lucy, Thomas, Nikki, Chopra, Manisha, Traub, Rebecca E, Jones, Sarah, Wagoner, Mary, Smajic, Sejla, Aly, Radwa, Katz, Jonathan, Chen, Henry, Miller, Robert G, Jenkins, Liberty, Khan, Shaida, Khatri, Bhupendra, Sershon, Lisa, Pavlakis, Pantelis, Holzberg, Shara, Li, Yuebing, Caristo, Irys B, Marquardt, Robert, Hastings, Debbie, Rube, Jacob, Lisak, Robert P, Choudhury, Aparna, Ruzhansky, Katherine, Sachdev, Amit, Shin, Susan, Bratton, Joan, Fetter, Mary, McKinnon, Naya, McKinnon, Jonathan, Sissons-Ross, Laura, Sahu, Amos, Distad, B Jane, Howard, James F, Jr, Bresch, Saskia, Genge, Angela, Hewamadduma, Channa, Hinton, John, Hussain, Yessar, Juntas-Morales, Raul, Kaminski, Henry J, Maniaol, Angelina, Mantegazza, Renato, Masuda, Masayuki, Sivakumar, Kumaraswamy, Śmiłowski, Marek, Utsugisawa, Kimiaki, Vu, Tuan, Weiss, Michael D, Zajda, Małgorzata, Boroojerdi, Babak, Brock, Melissa, de la Borderie, Guillemette, Duda, Petra W, Lowcock, Romana, Vanderkelen, Mark, and Leite, M Isabel
Published: 2023
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8. In inflammatory myopathies, dropped head/bent spine syndrome is associated with scleromyositis: an international case–control study

Author: Jérémie Sellam, Laurent Arnaud, Marta Mosca, Florenzo Iannone, Luca Diamanti, Luca Iaccarino, Aurélien Guffroy, Jacques-Eric Gottenberg, Veronica Codullo, Alain Meyer, Simone Barsotti, Jelena Blagojevic, Lorenzo Cavagna, François Séverac, Bernard Geny, Jean Sibilia, Marie Hudson, François Maurier, Benjamin Terrier, Silvia Bellando-Randone, Emanuelle Dernis, Carlotta Nannini, Marion Couderc, Anne Tournadre, Jean Jacques Dubost, Albert Selva-O'Callaghan, Claire de Moreuil, Giacomo Emmi, Baptiste Hervier, Guilhem Sole, Philippe Guilpain, Jean-François Viallard, Aleksandra Nadaj-Pakleza, Enrico Marchioni, Monica Groza, Sergio Prieto-González, Nicolas Poursac, Isabelle Guichard, Kubéraka Mariampillai, Yves Troyanov, Luc Pijnenburg, Antoine Soulages, Jean-Marc Galempoix, Margherita Giannini, Maude Bouchard-Marmen, Livio Bernardi, Paola Bini, Fanny Duval, Delphine Lebrun, Jean-Maxime Piot, Eglantine Rouanet, Nathalie Vernier, Veronique Vesperini, and Rahima Ziane
Subjects: Medicine
Abstract: Background Some myopathies can lead to dropped head or bent spine syndrome (DH/BS). The significance of this symptom has not been studied in inflammatory myopathies (IM).Objectives To assess the significance of DH/BS in patients with IM.Methods Practitioners from five IM networks were invited to report patients with IM suffering from DH/BS (without other known cause than IM). IM patients without DH/BS, randomly selected in each participating centre, were included as controls at a ratio of 2 to 1.Results 49 DH/BS-IM patients (DH: 57.1%, BS: 42.9%) were compared with 98 control-IM patients. DH/BS-IM patients were older (65 years vs 53 years, p
Published: 2023
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9. The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability

Author: Marion Onnée, Audrey Bénézit, Sultan Bastu, Aleksandra Nadaj-Pakleza, Béatrice Lannes, Flavie Ader, Corinne Thèze, Pascal Cintas, Claude Cances, Robert-Yves Carlier, Corinne Metay, Mireille Cossée, and Edoardo Malfatti
Subjects: cardiomyopathy, myopathy, FLNC, mutation, Biology (General), QH301-705.5
Abstract: Filamin C-related disorders include myopathies and cardiomyopathies linked to variants in the FLNC gene. Filamin C belongs to a family of actin-binding proteins involved in sarcomere stability. This study investigates the pathogenic impact of the FLNC c.3557C > T (p.Ala1186Val) pathogenic variant associated with an early-onset cytoplasmic body myopathy and cardiomyopathy in three unrelated patients. We performed clinical imaging and myopathologic and genetic characterization of three patients with an early-onset myopathy and cardiomyopathy. Bioinformatics analysis, variant interpretation, and protein structure analysis were performed to validate and assess the effects of the filamin C variant. All patients presented with a homogeneous clinical phenotype marked by a severe contractural myopathy, leading to loss of gait. There was prominent respiratory involvement and restrictive or hypertrophic cardiomyopathies. The Ala1186Val variant is located in the interstrand loop involved in intradomain stabilization and/or interdomain interactions with neighbor Ig-like domains. 3D modeling highlights local structural changes involving nearby residues and probably impacts the protein stability, causing protein aggregation in the form of cytoplasmic bodies. Myopathologic studies have disclosed the prominent aggregation and upregulation of the aggrephagy-associated proteins LC3B and p62. As a whole, the Ala1186Val variant in the FLNC gene provokes a severe myopathy with contractures, respiratory involvement, and cardiomyopathy due to protein aggregation in patients’ muscles.
Published: 2024
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10. Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Author: Sanson, Benoît, Stalens, Caroline, Guien, Céline, Villa, Luisa, Eng, Catherine, Rabarimeriarijaona, Sitraka, Bernard, Rafaëlle, Cintas, Pascal, Solé, Guilhem, Tiffreau, Vincent, Echaniz-Laguna, Andoni, Magot, Armelle, Juntas Morales, Raul, Boyer, François Constant, Nadaj-Pakleza, Aleksandra, Jacquin-Piques, Agnès, Béroud, Christophe, and Sacconi, Sabrina
Published: 2022
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11. Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Author: Benoît Sanson, Caroline Stalens, Céline Guien, Luisa Villa, Catherine Eng, Sitraka Rabarimeriarijaona, Rafaëlle Bernard, Pascal Cintas, Guilhem Solé, Vincent Tiffreau, Andoni Echaniz-Laguna, Armelle Magot, Raul Juntas Morales, François Constant Boyer, Aleksandra Nadaj-Pakleza, Agnès Jacquin-Piques, Christophe Béroud, Sabrina Sacconi, and The French FSHD registry collaboration group
Subjects: Medicine
Abstract: Abstract Background Facioscapulohumeral muscular dystrophy (FSHD) is among the most prevalent muscular dystrophies and currently has no treatment. Clinical and genetic heterogeneity are the main challenges to a full comprehension of the physiopathological mechanism. Improving our knowledge of FSHD is crucial to the development of future therapeutic trials and standards of care. National FSHD registries have been set up to this end. The French National Registry of FSHD combines a clinical evaluation form (CEF) and a self-report questionnaire (SRQ), filled out by a physician with expertise in neuromuscular dystrophies and by the patient, respectively. Aside from favoring recruitment, our strategy was devised to improve data quality. Indeed, the pairwise comparison of data from 281 patients for 39 items allowed for evaluating data accuracy. Kappa or intra-class coefficient (ICC) values were calculated to determine the correlation between answers provided in both the CEF and SRQ. Results Patients and physicians agreed on a majority of questions common to the SRQ and CEF (24 out of 39). Demographic, diagnosis- and care-related questions were generally answered consistently by the patient and the medical practitioner (kappa or ICC values of most items in these groups were greater than 0.8). Muscle function-related items, i.e. FSHD-specific signs, showed an overall medium to poor correlation between data provided in the two forms; the distribution of agreements in this section was markedly spread out and ranged from poor to good. In particular, there was very little agreement regarding the assessment of facial motricity and the presence of a winged scapula. However, patients and physicians agreed very well on the Vignos and Brooke scores. The report of symptoms not specific to FSHD showed general poor consistency. Conclusions Patient and physician answers are largely concordant when addressing quantitative and objective items. Consequently, we updated collection forms by relying more on patient-reported data where appropriate. We hope the revised forms will reduce data collection time while ensuring the same quality standard. With the advent of artificial intelligence and automated decision-making, high-quality and reliable data are critical to develop top-performing algorithms to improve diagnosis, care, and evaluate the efficiency of upcoming treatments.
Published: 2022
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12. A rise in cases of nitrous oxide abuse: neurological complications and biological findings

Author: Einsiedler, Maximilian, Voulleminot, Paul, Demuth, Stanislas, Kalaaji, Pauline, Bogdan, Thomas, Gauer, Lucas, Reschwein, Cécile, Nadaj-Pakleza, Aleksandra, de Sèze, Jérôme, Kremer, Laurent, Schroder, Ivana, and Bigaut, Kévin
Published: 2022
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13. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Author: Behin, Anthony, Boentert, Matthias, Carvalho, Gerson, Chahin, Nizar, Charrow, Joel, Deegan, Patrick, Durmus Tekce, Hacer, Duval, Fanny, Genge, Angela, Gutmann, Ludwig, Henderson, Robert D, Hennermann, Julia B, Hiwot, Tarekegn, Hughes, Derralynn, Karaa, Amel, Karam, Chafic, Kautzky-Willer, Alexandra, Komaki, Hirofumi, Laforet, Pascal, Longo, Nicola, Malinova, Vera, Maré, Ricardo, Maxit, Clarisa, Mengel, Eugen, Moggio, Maurizio Gualtiero, Molnár, Mária Judit, Mongini, Tiziana Enrica, Nadaj-Pakleza, Aleksandra, Nascimento Osorio, Andres, Noury, Jean-Baptiste, Oliveira, Acary Souza Bulle, Parman, Yesim, Pena, Loren, Remiche, Gauthier, Sciacco, Monica, Shieh, Perry B, Smith, Cheryl, Stulnig, Thomas, Taithe, Frederic, Tard, Céline, Tarnopolsky, Mark, Vorgerd, Matthias, Whitley, Chester, Young, Peter, Alonso-Pérez, Jorge, Altemus, Patricia, Aubé-Nathier, Anne-Catherine, Avelar, Jennifer B, Bailey, Carrie, Bekircan-Kurt, Can Ebru, Billy, Jenny, Boschi, Silvia, Brown, Kathryn E, Carrera Garcia, Laura, Chase, Lauren, Cirne, Hamilton, Danjoux, Loïc, Davion, Jean-Baptiste, DeArmey, Stephanie, Fedotova, Ekaterina, Gandolfo, Eve, Grosz, Zoltan, Guellec, Dewi, Guettsches, Anne-Katrin, Guglieri, Michela, Hatcher, Erin, Helms, Sina, Hufgard-Leitner, Miriam, Klyushnikov, Sergey A., Langton, Jacqui, Linková, Lenka, Mavroudakis, Nicolas, Mazurová, Stella, Mori, Madoka, Müller-Miny, Louisa, Musumeci, Olimpia, Nance, Christopher S, Natera-de Benito, Daniel, Neel, Robert, Niizawa, Gabriela A, Noll, Lauren, Ortega, Erik, Pasnoor, Mamatha, Pautot, Vivien, Potulska-Chromik, Anna, Pugliese, Alessia, Questienne, Claire, Ramos Lopes, Margarida, Reyes-Leiva, David, Riedl, Michaela, Rugiero, Marcelo Francisco, Salort-Campana, Emmanuelle, Sgobbi Souza, Paulo Victor, Sole, Guilhem, Solera, Luca, Souto Lopes, Suzara, Specht, Sabine, Statland, Jeffrey, Swenson, Andrea, Tan, Chong Yew, Tizon, Sónia, van der Beek, N A M E, van Kooten, Harmke A., Wencel, Marie, Wenninger, Stephan, Zagnoli, Fabien, Diaz-Manera, Jordi, Kishnani, Priya S, Kushlaf, Hani, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Toscano, Antonio, van der Ploeg, Ans T, Berger, Kenneth I, Clemens, Paula R, Chien, Yin-Hsiu, Day, John W, Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Borges, Joao Lindolfo, Bouhour, Francoise, Choi, Young Chul, Erdem-Ozdamar, Sevim, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Hug, Christopher, Huynh-Ba, Olivier, Johnson, Judith, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M, and Schoser, Benedikt
Published: 2021
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14. A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

Author: Lucie Isoline Pisella, Sara Fernandes, Guilhem Solé, Tanya Stojkovic, Céline Tard, Jean-Baptiste Chanson, Françoise Bouhour, Emmanuelle Salort-Campana, Guillemette Beaudonnet, Louise Debergé, Fanny Duval, Aude-Marie Grapperon, Marion Masingue, Aleksandra Nadaj-Pakleza, Yann Péréon, Frédérique Audic, Anthony Behin, Diane Friedman, Armelle Magot, Jean-Baptiste Noury, Sarah Souvannanorath, Karim Wahbi, Jean-Christophe Antoine, Kévin Bigaut, Jean-Philippe Camdessanché, Pascal Cintas, Rabab Debs, Caroline Espil-Taris, Laurent Kremer, Thierry Kuntzer, Pascal Laforêt, Vincent Laugel, Martial Mallaret, Maud Michaud, Sylvain Nollet, Juliette Svahn, Savine Vicart, Rocio Nur Villar-Quiles, Isabelle Desguerre, David Adams, Sandrine Segovia-Kueny, Géraldine Merret, Elhadi Hammouda, Annamaria Molon, and Shahram Attarian
Subjects: Neuromuscular diseases, COVID-19, Risk factor, Prognosis, Medicine
Abstract: Abstract Background Due to their health condition, patients with neuromuscular diseases (NMD) are at greater risk of developing serious complications with COVID-19. The objective of this study was to analyze the prevalence of COVID-19 among NMD patients and the risk factors for its impact and severity during the first wave of the pandemic. Clinical data were collected from NMD-COVID-19 patients, between March 25, 2020 and May 11, 2020 in an anonymous survey carried out by expert physicians from the French Health Care Network Filnemus. Results Physicians reported 84 patients, including: 34 with myasthenia gravis, 27 with myopathy and 23 with neuropathy. COVID-19 had no effect on NMD for 48 (58%) patients and 48 (58%) patients developed low COVID-19 severity. COVID-19 caused the death of 9 (11%) NMD patients. Diabetic patients were at greater risk of dying. Patients with diabetes, hypertension or severe forms of NMD had a higher risk of developing a moderate or severe form of COVID-19. In our cohort, corticosteroids and other immunosuppressants were not significantly associated with higher COVID-19 severity for acquired NMD. Conclusion During this period, a small percentage of French NMD patients was affected by COVID-19 compared to the general French population and COVID-19 had a limited short-term effect on them. Diabetes, hypertension and a severe degree of NMD were identified as risk factors of unfavorable outcome following COVID-19. Conversely, in our cohort of patients with acquired NMD, corticosteroids or other immunosuppressants did not appear to be risk factors for more severe COVID-19.
Published: 2021
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15. Efficacy and safety of mexiletine in non-dystrophic myotonias: A randomised, double-blind, placebo-controlled, cross-over study

Author: Vicart, Savine, Franques, Jérôme, Bouhour, Françoise, Magot, Armelle, Péréon, Yann, Sacconi, Sabrina, Nadaj-Pakleza, Aleksandra, Behin, Anthony, Zahr, Noël, Hézode, Marianne, Fournier, Emmanuel, Payan, Christine, Lacomblez, Lucette, and Fontaine, Bertrand
Published: 2021
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16. Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohort

Author: Montaut, Solveig, Diedhiou, Nadège, Fahrer, Pauline, Marelli, Cécilia, Lhermitte, Benoit, Robelin, Laura, Vincent, Marie Claire, Corti, Lucas, Taieb, Guillaume, Gebus, Odile, Rudolf, Gabrielle, Tarabeux, Julien, Dondaine, Nicolas, Canuet, Matthieu, Almeras, Marilyne, Benkirane, Mehdi, Larrieu, Lise, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Echaniz-Laguna, Andoni, Cauquil, Cécile, Lannes, Béatrice, Chelly, Jamel, Anheim, Mathieu, Puccio, Hélène, and Tranchant, Christine
Published: 2021
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17. Respiratory decline in adult patients with Becker muscular dystrophy: A longitudinal study

Author: De Wel, Bram, Willaert, Sofie, Nadaj-Pakleza, Aleksandra, Aubé-Nathier, Anne-Catherine, Testelmans, Dries, Buyse, Bertien, and Claeys, Kristl G.
Published: 2021
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18. A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

Author: Pisella, Lucie Isoline, Fernandes, Sara, Solé, Guilhem, Stojkovic, Tanya, Tard, Céline, Chanson, Jean-Baptiste, Bouhour, Françoise, Salort-Campana, Emmanuelle, Beaudonnet, Guillemette, Debergé, Louise, Duval, Fanny, Grapperon, Aude-Marie, Masingue, Marion, Nadaj-Pakleza, Aleksandra, Péréon, Yann, Audic, Frédérique, Behin, Anthony, Friedman, Diane, Magot, Armelle, Noury, Jean-Baptiste, Souvannanorath, Sarah, Wahbi, Karim, Antoine, Jean-Christophe, Bigaut, Kévin, Camdessanché, Jean-Philippe, Cintas, Pascal, Debs, Rabab, Espil-Taris, Caroline, Kremer, Laurent, Kuntzer, Thierry, Laforêt, Pascal, Laugel, Vincent, Mallaret, Martial, Michaud, Maud, Nollet, Sylvain, Svahn, Juliette, Vicart, Savine, Villar-Quiles, Rocio Nur, Desguerre, Isabelle, Adams, David, Segovia-Kueny, Sandrine, Merret, Géraldine, Hammouda, Elhadi, Molon, Annamaria, and Attarian, Shahram
Published: 2021
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19. Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study.

Author: Fargeot, Guillaume, Echaniz-Laguna, Andoni, Labeyrie, Céline, Svahn, Juliette, Camdessanché, Jean-Philippe, Cintas, Pascal, Chanson, Jean-Baptiste, Esselin, Florence, Piedvache, Céline, Verstuyft, Céline, Genestet, Steeve, Lagrange, Emmeline, Magy, Laurent, Péréon, Yann, Sacconi, Sabrina, Signate, Aissatou, Nadaj-Pakleza, Aleksandra, Taithe, Frédéric, Viala, Karine, and Tard, Céline
Subjects: OLDER patients, CARDIAC amyloidosis, POLYNEUROPATHIES, TRANSTHYRETIN, NERVE conduction studies, AMYLOIDOSIS
Abstract: Hereditary transthyretin amyloidosis (ATTRv) is an adult-onset autosomal dominant disease resulting from TTR gene pathogenic variants. ATTRv often presents as a progressive polyneuropathy, and effective ATTRv treatments are available. In this 5 year-long (2017–2021) nationwide prospective study, we systematically analysed the TTR gene in French patients with age >50 years with a progressive idiopathic polyneuropathy. 553 patients (70% males) with a mean age of 70 years were included. A TTR gene pathogenic variant was found in 15 patients (2.7%), including the Val30Met TTR variation in 10 cases. In comparison with patients with no TTR gene pathogenic variants (n = 538), patients with TTR pathogenic variants more often presented with orthostatic hypotension (53 vs. 21%, p =.007), significant weight loss (33 vs 11%, p =.024) and rapidly deteriorating nerve conduction studies (26 vs. 8%, p =.03). ATTRv diagnosis led to amyloid cardiomyopathy diagnosis in 11 cases, ATTRv specific treatment in all cases and identification of 15 additional ATTRv cases among relatives. In this nationwide prospective study, we found ATTRv in 2.7% of patients with age >50 years with a progressive polyneuropathy. These results are highly important for the early identification of patients in need of disease-modifying treatments. [ABSTRACT FROM AUTHOR]
Published: 2024
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20. Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Author: Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, Nathalie Streichenberger, Sarah Leonard-Louis, Guy Brochier, Angeline Madelaine, Clemence Labasse, Carola Hedberg-Oldfors, Thomas Krag, Louisa Jauze, Julien Fabregue, Philippe Labrune, Jose Milisenda, Aleksandra Nadaj-Pakleza, Sabrina Sacconi, Federico Mingozzi, Giuseppe Ronzitti, François Petit, Benedikt Schoser, Anders Oldfors, John Vissing, Norma B. Romero, Ichizo Nishino, and Edoardo Malfatti
Subjects: Glycogen storage disease III, Muscle glycogenosis, Metabolic myopathies, Myopathology, Autophagy, Autophagic impairment, Neurology. Diseases of the nervous system, RC346-429
Abstract: Abstract Glycogen storage disorder type III (GSDIII), or debranching enzyme (GDE) deficiency, is a rare metabolic disorder characterized by variable liver, cardiac, and skeletal muscle involvement. GSDIII manifests with liver symptoms in infancy and muscle involvement during early adulthood. Muscle biopsy is mainly performed in patients diagnosed in adulthood, as routine diagnosis relies on blood or liver GDE analysis, followed by AGL gene sequencing. The GSDIII mouse model recapitulate the clinical phenotype in humans, and a nearly full rescue of muscle function was observed in mice treated with the dual AAV vector expressing the GDE transgene. In order to characterize GSDIII muscle morphological spectrum and identify novel disease markers and pathways, we performed a large international multicentric morphological study on 30 muscle biopsies from GSDIII patients. Autophagy flux studies were performed in human muscle biopsies and muscles from GSDIII mice. The human muscle biopsies revealed a typical and constant vacuolar myopathy, characterized by multiple and variably sized vacuoles filled with PAS-positive material. Using electron microscopy, we confirmed the presence of large non-membrane bound sarcoplasmic deposits of normally structured glycogen as well as smaller rounded sac structures lined by a continuous double membrane containing only glycogen, corresponding to autophagosomes. A consistent SQSTM1/p62 decrease and beclin-1 increase in human muscle biopsies suggested an enhanced autophagy. Consistent with this, an increase in the lipidated form of LC3, LC3II was found in patients compared to controls. A decrease in SQSTM1/p62 was also found in the GSDIII mouse model. In conclusion, we characterized the morphological phenotype in GSDIII muscle and demonstrated dysfunctional autophagy in GSDIII human samples. These findings suggest that autophagic modulation combined with gene therapy might be considered as a novel treatment for GSDIII.
Published: 2019
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21. Long‐term prognosis of fatty‐acid oxidation disorders in adults: Optimism despite the limited effective therapies available.

Author: Rouyer, Alice, Tard, Céline, Dessein, Anne‐Frédérique, Spinazzi, Marco, Bédat‐Millet, Anne‐Laure, Dimitri‐Boulos, Dalia, Nadaj‐Pakleza, Aleksandra, Chanson, Jean‐Baptiste, Nicolas, Guillaume, Douillard, Claire, and Laforêt, Pascal
Subjects: CARNITINE palmitoyltransferase, MUSCLE weakness, NEUROMUSCULAR diseases, CARDIOLOGICAL manifestations of general diseases, GENETIC disorders, GLUCOSE-6-phosphate dehydrogenase deficiency
Abstract: Introduction: Fatty‐acid oxidation disorders (FAODs) are recessive genetic diseases. Materials and methods: We report here clinical and paraclinical data from a retrospective study of 44 adults with muscular FAODs from six French reference centers for neuromuscular or metabolic diseases. Results: The study cohort consisted of 44 adult patients: 14 with carnitine palmitoyl transferase 2 deficiency (32%), nine with multiple acyl‐CoA deficiency (20%), 13 with very long‐chain acyl‐CoA dehydrogenase deficiency (30%), three with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (7%), and five with short‐chain acyl‐CoA dehydrogenase deficiency (11%). Disease onset occurred during childhood in the majority of patients (59%), with a mean age at onset of 15 years (range = 0.5–35) and a mean of 12.6 years (range = 0–58) from disease onset to diagnosis. The principal symptoms were acute muscle manifestations (rhabdomyolysis, exercise intolerance, myalgia), sometimes associated with permanent muscle weakness. Episodes of rhabdomyolysis were frequent (84%), with a mean creatinine kinase level of 68,958 U/L (range = 660–300,000). General metabolic complications were observed in 58% of patients, respiratory manifestations in 18% of cases, and cardiological manifestations in 9% of cases. Fasting acylcarnitine profile was used to orient genetic explorations in 65% of cases. After a mean follow‐up of 10 years, 33% of patients were asymptomatic and 56% continued to display symptoms after exercise. The frequency of rhabdomyolysis decreased after diagnosis in 64% of cases. Conclusion: A standardized register would complete this cohort description of muscular forms of FAODs with exhaustive data, making it possible to assess the efficacy of therapeutic protocols in real‐life conditions and during the long‐term follow‐up of patients. [ABSTRACT FROM AUTHOR]
Published: 2024
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22. The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability.

Author: Onnée, Marion, Bénézit, Audrey, Bastu, Sultan, Nadaj-Pakleza, Aleksandra, Lannes, Béatrice, Ader, Flavie, Thèze, Corinne, Cintas, Pascal, Cances, Claude, Carlier, Robert-Yves, Metay, Corinne, Cossée, Mireille, and Malfatti, Edoardo
Subjects: CARDIOMYOPATHIES, MUSCLE diseases, HYPERTROPHIC cardiomyopathy, MICROFILAMENT proteins, PROTEIN stability, WALKING speed
Abstract: Filamin C-related disorders include myopathies and cardiomyopathies linked to variants in the FLNC gene. Filamin C belongs to a family of actin-binding proteins involved in sarcomere stability. This study investigates the pathogenic impact of the FLNC c.3557C > T (p.Ala1186Val) pathogenic variant associated with an early-onset cytoplasmic body myopathy and cardiomyopathy in three unrelated patients. We performed clinical imaging and myopathologic and genetic characterization of three patients with an early-onset myopathy and cardiomyopathy. Bioinformatics analysis, variant interpretation, and protein structure analysis were performed to validate and assess the effects of the filamin C variant. All patients presented with a homogeneous clinical phenotype marked by a severe contractural myopathy, leading to loss of gait. There was prominent respiratory involvement and restrictive or hypertrophic cardiomyopathies. The Ala1186Val variant is located in the interstrand loop involved in intradomain stabilization and/or interdomain interactions with neighbor Ig-like domains. 3D modeling highlights local structural changes involving nearby residues and probably impacts the protein stability, causing protein aggregation in the form of cytoplasmic bodies. Myopathologic studies have disclosed the prominent aggregation and upregulation of the aggrephagy-associated proteins LC3B and p62. As a whole, the Ala1186Val variant in the FLNC gene provokes a severe myopathy with contractures, respiratory involvement, and cardiomyopathy due to protein aggregation in patients' muscles. [ABSTRACT FROM AUTHOR]
Published: 2024
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23. Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Author: Lukas J. Schnitzler, Tobias Schreckenbach, Aleksandra Nadaj-Pakleza, Werner Stenzel, Elisabeth J. Rushing, Philip Van Damme, Andreas Ferbert, Susanne Petri, Christian Hartmann, Antje Bornemann, Andreas Meisel, Jens A. Petersen, Thomas Tousseyn, Dietmar R. Thal, Jens Reimann, Peter De Jonghe, Jean-Jacques Martin, Peter Y. Van den Bergh, Jörg B. Schulz, Joachim Weis, and Kristl G. Claeys
Subjects: SLONM, Muscle biopsy, HIV-associated nemaline myopathy, HIV-NM, Monoclonal gammopathy, MGUS, Medicine
Abstract: Abstract Background Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset muscle disorder, characterized by the presence of nemaline rods in muscle fibers. Phenotypic characterization in a large cohort and a comprehensive overview of SLONM are lacking. Methods We studied the clinico-pathological features, treatment and outcome in a large cohort of 76 patients with SLONM, comprising 10 new patients and 66 cases derived from a literature meta-analysis (PubMed, 1966–2016), and compared these with 15 reported HIV-associated nemaline myopathy (HIV-NM) cases. In 6 SLONM patients, we performed a targeted next-generation sequencing (NGS) panel comprising 283 myopathy genes. Results SLONM patients had a mean age at onset of 52 years. The predominant phenotype consisted of weakness and atrophy of proximal upper limbs in 84%, of proximal lower limbs in 80% and both in 67%. Other common symptoms included axial weakness in 68%, as well as dyspnea in 55% and dysphagia in 47% of the patients. In 53% a monoclonal gammopathy of unknown significance (MGUS) was detected in serum. The mean percentage of muscle fibers containing rods was 28% (range 1–63%). In 2 cases ultrastructural analysis was necessary to detect the rods. The most successful treatment in SLONM patients (all with MGUS) was autologous peripheral blood stem cell therapy. A targeted NGS gene panel in 6 SLONM patients (without MGUS) did not reveal causative pathogenic variants. In a comparison of SLONM patients with and without MGUS, the former comprised significantly more males, had more rapid disease progression, and more vacuolar changes in muscle fibers. Interestingly, the muscle biopsy of 2 SLONM patients with MGUS revealed intranuclear rods, whereas this feature was not seen in any of the biopsies from patients without paraproteinemia. Compared to the overall SLONM cohort, significantly more HIV-NM patients were male, with a lower age at onset (mean 34 years). In addition, immunosuppression was more frequently applied with more favorable outcome, and muscle biopsies revealed a significantly higher degree of inflammation and necrosis in this cohort. Similar to SLONM, MGUS was present in half of the HIV-NM patients. Conclusions SLONM presents a challenging, but important differential diagnosis to other neuromuscular diseases of adult onset. Investigations for MGUS and HIV should be performed, as they require distinct but often effective therapeutic approaches. Even though SLONM and HIV-NM show some differences, there exists a large clinico-pathological overlap between the 2 entities.
Published: 2017
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24. Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III

Author: Decostre, Valérie, Laforêt, Pascal, Nadaj-Pakleza, Aleksandra, De Antonio, Marie, Leveugle, Sylvain, Ollivier, Gwenn, Canal, Aurélie, Kachetel, Kahina, Petit, François, Eymard, Bruno, Behin, Anthony, Wahbi, Karim, Labrune, Philippe, and Hogrel, Jean-Yves
Published: 2016
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25. Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Author: Wahbi, Karim, Ben Yaou, Rabah, Gandjbakhch, Estelle, Anselme, Frédéric, Gossios, Thomas, Lakdawala, Neal K., Stalens, Caroline, Sacher, Frédéric, Babuty, Dominique, Trochu, Jean-Noel, Moubarak, Ghassan, Savvatis, Kostantinos, Porcher, Raphaël, Laforêt, Pascal, Fayssoil, Abdallah, Marijon, Eloi, Stojkovic, Tanya, Béhin, Anthony, Leonard-Louis, Sarah, Sole, Guilhem, Labombarda, Fabien, Richard, Pascale, Metay, Corinne, Quijano-Roy, Susana, Dabaj, Ivana, Klug, Didier, Vantyghem, Marie-Christine, Chevalier, Philippe, Ambrosi, Pierre, Salort, Emmanuelle, Sadoul, Nicolas, Waintraub, Xavier, Chikhaoui, Khadija, Mabo, Philippe, Combes, Nicolas, Maury, Philippe, Sellal, Jean-Marc, Tedrow, Usha B., Kalman, Jonathan M., Vohra, Jitendra, Androulakis, Alexander F.A., Zeppenfeld, Katja, Thompson, Tina, Barnerias, Christine, Bécane, Henri-Marc, Bieth, Eric, Boccara, Franck, Bonnet, Damien, Bouhour, Françoise, Boulé, Stéphane, Brehin, Anne-Claire, Chapon, Françoise, Cintas, Pascal, Cuisset, Jean-Marie, Davy, Jean-Marc, De Sandre-Giovannoli, Annachiara, Demurger, Florence, Desguerre, Isabelle, Dieterich, Klaus, Durigneux, Julien, Echaniz-Laguna, Andoni, Eschalier, Romain, Ferreiro, Ana, Ferrer, Xavier, Francannet, Christine, Fradin, Mélanie, Gaborit, Bénédicte, Gay, Arnaud, Hagège, Albert, Isapof, Arnaud, Jeru, Isabelle, Juntas Morales, Raul, Lagrue, Emmanuelle, Lamblin, Nicolas, Lascols, Olivier, Laugel, Vincent, Lazarus, Arnaud, Leturcq, France, Levy, Nicolas, Magot, Armelle, Manel, Véronique, Martins, Raphaël, Mayer, Michèle, Mercier, Sandra, Meune, Christophe, Michaud, Maud, Minot-Myhié, Marie-Christine, Muchir, Antoine, Nadaj-Pakleza, Aleksandra, Péréon, Yann, Petiot, Philippe, Petit, Florence, Praline, Julien, Rollin, Anne, Sabouraud, Pascal, Sarret, Catherine, Schaeffer, Stéphane, Taithe, Frederic, Tard, Céline, Tiffreau, Vincent, Toutain, Annick, Vatier, Camille, Walther-Louvier, Ulrike, Eymard, Bruno, Charron, Philippe, Vigouroux, Corinne, Bonne, Gisèle, Kumar, Saurabh, Elliott, Perry, and Duboc, Denis
Published: 2019
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26. Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

Author: Laforêt, Pascal, Inoue, Michio, Goillot, Evelyne, Lefeuvre, Claire, Cagin, Umut, Streichenberger, Nathalie, Leonard-Louis, Sarah, Brochier, Guy, Madelaine, Angeline, Labasse, Clemence, Hedberg-Oldfors, Carola, Krag, Thomas, Jauze, Louisa, Fabregue, Julien, Labrune, Philippe, Milisenda, Jose, Nadaj-Pakleza, Aleksandra, Sacconi, Sabrina, Mingozzi, Federico, Ronzitti, Giuseppe, Petit, François, Schoser, Benedikt, Oldfors, Anders, Vissing, John, Romero, Norma B., Nishino, Ichizo, and Malfatti, Edoardo
Published: 2019
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27. Clinical and electrophysiological characteristics of women with X‐linked Charcot–Marie–Tooth disease.

Author: Barbat du Closel, Luce, Bonello‐Palot, Nathalie, Péréon, Yann, Echaniz‐Laguna, Andoni, Camdessanche, Jean Philippe, Nadaj‐Pakleza, Aleksandra, Chanson, Jean‐Baptiste, Frachet, Simon, Magy, Laurent, Cassereau, Julien, Cintas, Pascal, Choumert, Ariane, Devic, Perrine, Leonard Louis, Sarah, Gravier Dumonceau, Robinson, Delmont, Emilien, Salort‐Campana, Emmanuelle, Bouhour, Françoise, Latour, Philippe, and Stojkovic, Tanya
Subjects: CHARCOT-Marie-Tooth disease, NEURAL conduction, ELECTROPHYSIOLOGY, SYMPTOMS, TEST scoring
Abstract: Background: X‐Linked Charcot–Marie–Tooth disease type 1 (CMTX1) is characterized by gender differences in clinical severity. Women are usually clinically affected later and less severely than men. However, their clinical presentation appears to be heterogenous. Our aim was to extend the phenotypic description in a large series of women with CMTX1. Methods: We retrospectively evaluated 263 patients with CMTX1 from 11 French reference centers. Demographic, clinical, and nerve conduction data were collected. The severity was assessed by CMT Examination Score (CMTES) and Overall Neuropathy Limitations Scale (ONLS) scores. We looked for asymmetrical strength, heterogeneous motor nerve conduction velocity (MNCV), and motor conduction blocks (CB). Results: The study included 137 women and 126 men from 151 families. Women had significantly more asymmetric motor deficits and MNCV than men. Women with an age of onset after 19 years were milder. Two groups of women were identified after 48 years of age. The first group represented 55%, with women progressing as severely as men, however, with a later onset age. The second group had mild or no symptoms. Some 39% of women had motor CB. Four women received intravenous immunoglobulin before being diagnosed with CMTX1. Conclusions: We identified two subgroups of women with CMTX1 who were over 48 years of age. Additionally, we have demonstrated that women with CMTX can exhibit an atypical clinical presentation, which may result in misdiagnosis. Therefore, in women presenting with chronic neuropathy, the presence of clinical asymmetry, heterogeneous MNCV, and/or motor CB should raise suspicion for X‐linked CMT, particularly CMTX1, and be included in the differential diagnosis. [ABSTRACT FROM AUTHOR]
Published: 2023
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28. Refining Incidence and Characteristics of Inflammatory Myopathies: A Quadruple‐Source Capture–Recapture Survey Using the 2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria.

Author: Debrut, Léa, Giannini, Margherita, Klein, Delphine, Spielmann, Lionel, Mertz, Philippe, Martin, Thierry, Nadaj‐Pakleza, Aleksandra, Hirschi, Sandrine, Nespola, Benoit, Lannes, Béatrice, Terzic, Joëlle, Hinschberger, Olivier, Dervieux, Benjamin, Lipsker, Dan, Arnaud, Laurent, Gottenberg, Jacques‐Eric, Kleinmann, Jean François, Geny, Bernard, Séverac, François, and Velten, Michel
Subjects: RHEUMATISM diagnosis, SKELETAL muscle, CONFIDENCE intervals, DERMATOMYOSITIS, RHEUMATOLOGY, REGRESSION analysis, MUSCLE weakness, NEUROLOGIC manifestations of general diseases, DESCRIPTIVE statistics, MYOSITIS, LONGITUDINAL method
Abstract: Objective: Inflammatory myopathies (IM), characterized by muscle inflammation and weakness, are rare systemic diseases. Our previous study estimated an IM incidence rate of 7.98 cases per million people per year (95% confidence interval 7.38–8.66) and highlighted important variations that were likely because of methodologic issues rather than true epidemiologic differences. In this study, we aimed to refine the incidence of IM, using the 2017 European League Against Rheumatism (EULAR)/American College of Rheumatology (ACR) classification criteria for IM and a quadruple‐source capture–recapture method during a 6‐year period in Alsace, France, a region with a population of 2 million having benefits of good access to health care and accredited IM referral centers. Methods: Clinical data of potential IM patients were obtained from 4 sources (general practitioners and community specialists, public and private hospital records, public and private laboratories, and archives from the pathology department). Patients residing in Alsace and who fulfilled the 2017 EULAR/ACR criteria for IM between January 1, 2006, and January 1, 2013, were included. We corrected potentially incomplete ascertainment of cases with capture–recapture analyses. We studied both spatial and temporal distributions of incidence of IM. We also assessed systemic manifestations of the disease. Results: Our review of 1,742 potential cases identified 106 patients with IM. No spatial or temporal heterogeneity was observed. Use of log‐linear models showed an estimated 14.9 additional missed cases. Thus, the incidence rate of IM was 8.22 new cases per million inhabitants per year (95% confidence interval 6.76–9.69). Extramuscular manifestations other than dermatomyositis rash were frequently recorded. Conclusion: The stringent methodology used in our study provides an accurate estimation of the incidence of IM. This study also demonstrates, in a population‐based cohort, the systemic nature of IM. [ABSTRACT FROM AUTHOR]
Published: 2023
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29. Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1

Author: Tasca, Giorgio, D'Amico, Adele, Monforte, Mauro, Nadaj-Pakleza, Aleksandra, Vialle, Marc, Fattori, Fabiana, Vissing, John, Ricci, Enzo, and Bertini, Enrico
Published: 2015
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30. Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

Author: Bauché, Stéphanie, Vellieux, Geoffroy, Sternberg, Damien, Fontenille, Marie-Joséphine, De Bruyckere, Elodie, Davoine, Claire-Sophie, Brochier, Guy, Messéant, Julien, Wolf, Lucie, Fardeau, Michel, Lacène, Emmanuelle, Romero, Norma, Koenig, Jeanine, Fournier, Emmanuel, Hantaï, Daniel, Streichenberger, Nathalie, Manel, Veronique, Lacour, Arnaud, Nadaj-Pakleza, Aleksandra, Sukno, Sylvie, Bouhour, Françoise, Laforêt, Pascal, Fontaine, Bertrand, Strochlic, Laure, Eymard, Bruno, Chevessier, Frédéric, Stojkovic, Tanya, and Nicole, Sophie
Published: 2017
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31. A rise in cases of nitrous oxide abuse: neurological complications and biological findings

Author: Cécile Reschwein, Laurent Kremer, Pauline Kalaaji, Stanislas Demuth, Ivana Schroder, Lucas Gauer, Thomas Bogdan, Jérôme De Seze, Paul Voulleminot, Maximilian Einsiedler, Aleksandra Nadaj-Pakleza, and Kévin Bigaut
Subjects: Vitamin, Pediatrics, medicine.medical_specialty, Neurology, Homocysteine, Vitamin B-12, Methylmalonic acid, Toxicology, chemistry.chemical_compound, medicine, Humans, Pandemics, Original Communication, Nitrous oxide, business.industry, SARS-CoV-2, Incidence (epidemiology), COVID-19, Vitamin B 12 Deficiency, medicine.disease, Substance abuse, Vitamin B 12, chemistry, Communicable Disease Control, Subacute Combined Degeneration, Neurology (clinical), business, Substance-related disorders
Abstract: Background The recent lockdown due to the COVID-19 pandemic has been linked to a higher incidence of psychiatric manifestations and substance abuse. The recreative use of nitrous oxide is more and more widespread and neurological complications are frequent. Methods We report clinical characteristics and biological findings of five consecutive patients presenting to our tertiary care center between April 2020 and February 2021 with various neurological symptoms occurring after recent nitrous oxide abuse. Results Our patients presented with subacute combined degeneration of the spinal cord (4/5 patients) or with acute inflammatory demyelinating polyneuropathy (1/5 patients). No patient had reduced vitamin B-12 titer, but all had elevated blood levels of homocysteine and methylmalonic acid. This reflects the functional deficit in vitamin B-12 that can be linked to nitrous oxide consumption. After vitamin B-12 supplementation, clinical signs regressed at least partially in all 5 patients. Conclusion We report an elevated incidence of neurological complications of nitrous oxide abuse occurring during the recent COVID-19 lockdown. Nitrous oxide abuse should be tracked down in patients presenting with compatible neurological symptoms and elevated homocysteinemia. Vitamin B-12 should be supplemented as soon as the diagnosis is made.
Published: 2021

32. Characteristics of Patients With Late-Onset Pompe Disease in France.

Author: Lefeuvre, Claire, De Antonio, Marie, Bouhour, Francoise, Tard, Celine, Salort-Campana, Emmanuelle, Lagrange, Emmeline, Behin, Anthony, Sole, Guilhem, Noury, Jean-Baptiste, Sacconi, Sabrina, Magot, Armelle, Nadaj-Pakleza, Aleksandra, Lacour, Arnaud, Beltran, Stephane, Spinazzi, Marco, Cintas, Pascal, Renard, Dimitri, Michaud, Maud, Bedat-Millet, Anne-Laure, and Prigent, Helene
Published: 2023
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33. Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.

Author: Fernández-Eulate, Gorka, Theuriet, Julian, Record, Christopher J., Querin, Giorgia, Masingue, Marion, Leonard-Louis, Sarah, Behin, Anthony, Le Forestier, Nadine, Pegat, Antoine, Michaud, Maud, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Tard, Celine, Bedat-Millet, Anne-Laure, Sole, Guilhem, Spinazzi, Marco, Salort-Campana, Emmanuelle, Echaniz-Laguna, Andoni, Poinsignon, Vianney, and Latour, Philippe
Published: 2023
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34. Genotype-phenotype correlations in valosin-containing protein disease

Author: Schiava, Marianela, Ikenaga, Chiseko, Villar-Quiles, Rocío Nur, Caballero-Ávila, Marta, Topf, Ana, Nishino, Ichizo, Kimonis, Virginia, Udd, Bjarne, Schoser, Benedikt, Zanoteli, Edmar, Souza, Paulo Victor Sgobbi, Tasca, Giorgio, Lloyd, Thomas, Lopez-de Munain, Adolfo, Paradas, Carmen, Pegoraro, Elena, Nadaj-Pakleza, Aleksandra, De Bleecker, Jan, Badrising, Umesh, Alonso-Jiménez, Alicia, Kostera-Pruszczyk, Anna, Miralles, Francesc, Shin, Jin-Hong, Bevilacqua, Jorge Alfredo, Olivé, Montse, Vorgerd, Matthias, Kley, Rudi, Brady, Stefen, Williams, Timothy, Domínguez-González, Cristina, Papadimas, George K, Warman-Chardon, Jodi, Claeys, Kristl G, de Visser, Marianne, Muelas, Nuria, LaForet, Pascal, Malfatti, Edoardo, Alfano, Lindsay N, Nair, Sruthi S, Manousakis, Georgios, Kushlaf, Hani A, Harms, Matthew B, Nance, Christopher, Ramos-Fransi, Alba, Rodolico, Carmelo, Hewamadduma, Channa, Cetin, Hakan, García-García, Jorge, Pál, Endre, Farrugia, Maria Elena, Lamont, Phillipa J, Quinn, Colin, Nedkova-Hristova, Velina, Peric, Stojan, Luo, Sushan, Oldfors, Anders, Taylor, Kate, Ralston, Stuart, Stojkovic, Tanya, Weihl, Conrad, Diaz-Manera, Jordi, VCP International Study Group, Schiava, Marianela, Caballero-Ávila, Marta, Nishino, Ichizo, Zanoteli, Edmar, Souza, Paulo Victor Sgobbi, Tasca, Giorgio, Pegoraro, Elena, Shin, Jin-Hong, Domínguez-Gonzalez, Cristina, Claeys, Kristl G., Alfano, Lindsay N., Nair, Sruthi S., Cetin, Hakan, Luo, Sushan, Weihl, Conrad, Díaz-Manera, Jordi, VCP International Study Group, Neurology, and ANS - Neuroinfection & -inflammation
Subjects: Psychiatry and Mental health, MYOPATHY, GENETICS, FRONTOTEMPORAL DEMENTIA, INCL BODY MYOSITIS, MUSCLE DISEASE, Surgery, Human medicine, Neurology (clinical)
Abstract: [ntroduction] Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations., [Methods] Descriptive retrospective study collecting clinical and genetic data from patients with confirmed mutations in the VCP gene in 52 centres from 24 countries., [Results] We included 234 patients (70% males, mean age 55.54 + 9.6 years [y]). Mean age at symptom onset 45.6 + 9.3 y, mean diagnostic delay 7.74 + 6 y, and mean time of disease progression 11.3 + 6.9 y. Disease onset was symmetric lower limb weakness in 50% of the patients progressing towards generalized muscle weakness affecting proximal and distal lower and upper limb muscles. Other clinical features included: respiratory symptoms in 40.3%, PBD in 26.7%, dysautonomia in 21.4%, upper and lower motor neuron signs in 13.3% and 21.85%, and FTD in 13.9% of the patient. Fifty-eight genetic variants were identified being the most frequent the c.464G>A, p.Arg155His in 28% of the patients and the c.463C>T, p.Arg155Cys in 11.1%. Twenty new mutations were identified. The c.463C>T, p.Arg155Cys variant had the earliest age of onset (37.8 + 7.6 y) among the 4 most frequent variants and a higher frequency of axial weakness, distal upper limb weakness, scapula winging and mix cognitive. 19.1% of the patients were full time wheelchair users and 4.0% (9/225) were bedridden at a median of 8.5 y and 15 y from onset. Thirty–seven patients died at a mean age of 63.9 + 8.1 and at a mean of 15.8 + 6.6 y from disease onset, 7 due to respiratory insufficiency and 5 due to rapidly progressive dementia. The presence of a FVC< 50% was associated with being full time wheelchair user/ bedridden and the presence of a FVC, [Conclusion] The heterogeneous clinical features of VCP could resemble other neuromuscular conditions. The c.463C>T p.Arg155Cys variant seems to have an earlier age of onset and more severe phenotype. Presence of FVC
Published: 2022

35. Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

Author: Altmann, Judith, Büchner, Boriana, Nadaj-Pakleza, Aleksandra, Schäfer, Jochen, Jackson, Sandra, Lehmann, Diana, Deschauer, Marcus, Kopajtich, Robert, Lautenschläger, Ronald, Kuhn, Klaus A., Karle, Kathrin, Schöls, Ludger, Schulz, Jörg B., Weis, Joachim, Prokisch, Holger, Kornblum, Cornelia, Claeys, Kristl G., and Klopstock, Thomas
Published: 2016
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36. Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases

Author: Michon, Claire-Cécile, Gargiulo, Marcela, Hahn-Barma, Valérie, Petit, François, Nadaj-Pakleza, Aleksandra, Herson, Ariane, Eymard, Bruno, Labrune, Philippe, and Laforet, Pascal
Published: 2015
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37. Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

Author: Celine Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne-Laure Bedat-Millet, Anthony Behin, Remi Bellance, Françoise Bouhour, Celia Boutte, François Boyer, Emmanuelle Campana-Salort, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valerie Drouin-Garraud, Xavier Ferrer, Helene Gervais-Bernard, Karima Ghorab, Pascal Laforet, Armelle Magot, Laurent Magy, Dominique Menard, Marie-Christine Minot, Aleksandra Nadaj-Pakleza, Sybille Pellieux, Yann Pereon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Sole, Tanya Stojkovich, Vincent Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K Gherardi, Bruno Eymard, Jack Puymirat, Sandrine Katsahian, and Guillaume Bassez
Subjects: Medicine, Science
Abstract: Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor determining the age of onset although no factor can finely predict phenotype and prognosis. Differences between males and females have not been specifically reported. Our aim is to study gender impact on DM1 phenotype and severity.We first performed cross-sectional analysis of main multiorgan clinical parameters in 1409 adult DM1 patients (>18 y) from the DM-Scope nationwide registry and observed different patterns in males and females. Then, we assessed gender impact on social and economic domains using the AFM-Téléthon DM1 survey (n = 970), and morbidity and mortality using the French National Health Service Database (n = 3301).Men more frequently had (1) severe muscular disability with marked myotonia, muscle weakness, cardiac, and respiratory involvement; (2) developmental abnormalities with facial dysmorphism and cognitive impairment inferred from low educational levels and work in specialized environments; and (3) lonely life. Alternatively, women more frequently had cataracts, dysphagia, digestive tract dysfunction, incontinence, thyroid disorder and obesity. Most differences were out of proportion to those observed in the general population. Compared to women, males were more affected in their social and economic life. In addition, they were more frequently hospitalized for cardiac problems, and had a higher mortality rate.Gender is a previously unrecognized factor influencing DM1 clinical profile and severity of the disease, with worse socio-economic consequences of the disease and higher morbidity and mortality in males. Gender should be considered in the design of both stratified medical management and clinical trials.
Published: 2016
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38. No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders:A randomized clinical cross-over trial

Author: Jesper H. Storgaard, Nicoline Løkken, Karen L. Madsen, Nicol C. Voermans, Pascal Laforêt, Aleksandra Nadaj‐Pakleza, Céline Tard, Gerrit van Hall, John Vissing, and Mette C. Ørngreen
Subjects: Cross-Over Studies, Exercise Tolerance, Mitochondrial Diseases, Carnitine O-Palmitoyltransferase, fatty acid oxidation disorders, Acyl-CoA Dehydrogenase, Long-Chain, Fatty Acids, VLCAD, resveratrol, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Lipid Metabolism, Inborn Errors, metabolic myopathy, Muscular Diseases, Resveratrol, Genetics, Congenital Bone Marrow Failure Syndromes, Humans, Oxidation-Reduction, CPTII, Genetics (clinical), Metabolism, Inborn Errors
Abstract: Contains fulltext : 252095.pdf (Publisher’s version ) (Open Access) The objective was to investigate whether resveratrol (RSV) can improve exercise capacity in patients with fatty acid oxidation (FAO) disorders. The study was a randomized, double-blind, cross-over trial. Nine patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency or carnitine palmitoyl transferase (CPT) II deficiency were randomized to receive either 8 weeks of 1000 mg day(-1) RSV or placebo (P) followed by a 4-weeks wash-out period and subsequently 8 weeks of the opposite treatment. Primary outcome measures were heart rate and FAO as measured via stable isotope technique during constant workload exercise. Secondary outcome measures included fat and glucose metabolism; perceived exertion; as well as subjective measures of energy expenditure, fatigue, and daily function. Eight participants completed the trial. Heart rate did not differ at the end of exercise after treatment with RSV vs placebo (P = .063). Rate of oxidation of palmitate at end of exercise was not different with 1.5 ± 0.8 (RSV) vs 1.3 ± 0.6 (P) μmol kg(-1) min(-1) (P = .109). Secondary outcomes did not change except for increased plasma glycerol and decreased plasma glucose levels at the end of exercise after treatment with RSV vs placebo. A daily dose of 1000 mg resveratrol does not improve exercise capacity or FAO during exercise in patients with CPTII or VLCAD deficiencies.
Published: 2022

39. Highlighting autophagy in a fatal case of Pompe's disease

Author: Gouju, Julien, Codron, Philippe, boileau-savary, caroline, Nadaj-Pakleza, Aleksandra, Spinazzi, Marco, Letourneur, Franck, Micro et Nanomédecines Translationnelles (MINT), and Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)
Subjects: [SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2021

40. A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

Author: Vincent Laugel, Karim Wahbi, Lucie Isoline Pisella, Rabab Debs, Sarah Souvannanorath, Martial Mallaret, Thierry Kuntzer, Sylvain Nollet, Jean-Christophe Antoine, Maud Michaud, Rocío-Nur Villar-Quiles, Aude-Marie Grapperon, Sandrine Segovia-Kueny, Pascal Laforêt, Céline Tard, EL-Hadi Hammouda, Géraldine Merret, Kévin Bigaut, Juliette Svahn, Laurent Kremer, Armelle Magot, Jean-Baptiste Noury, Guillemette Beaudonnet, Louise Debergé, Aleksandra Nadaj-Pakleza, Diane Friedman, Yann Péréon, Emmanuelle Salort-Campana, Pascal Cintas, Sara Fernandes, David H. Adams, Annamaria Molon, Fanny Duval, Anthony Behin, Shahram Attarian, Frédérique Audic, Jean-Philippe Camdessanché, Isabelle Desguerre, Tanya Stojkovic, Françoise Bouhour, Marion Masingue, Guilhem Solé, Caroline Espil-Taris, Savine Vicart, Jean-Baptiste Chanson, Assistance Publique - Hôpitaux de Marseille (APHM), Groupe hospitalier Pellegrin, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Lille, Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Strasbourg, Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Hôpital de la Timone [CHU - APHM] (TIMONE), Aix Marseille Université (AMU), Hôpital Bicêtre, Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital Raymond Poincaré [AP-HP], Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Henri Mondor [Créteil], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Bordeaux [Bordeaux], Lausanne University Hospital, Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire [Grenoble] (CHU), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), CHU Necker - Enfants Malades [AP-HP], AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Association française contre les myopathies (AFM-Téléthon), Admin, Oskar, Troubles cognitifs dégénératifs et vasculaires - U 1171 (TCDV), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Henri Mondor, Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Thérapie des maladies du muscle strié, Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Hôpital Purpan [Toulouse], and CHU Toulouse [Toulouse]
Subjects: medicine.medical_specialty, Cross-sectional study, Population, 03 medical and health sciences, 0302 clinical medicine, Diabetes mellitus, Internal medicine, Health care, medicine, Humans, Pharmacology (medical), Risk factor, education, Myopathy, Pandemics, Genetics (clinical), 030304 developmental biology, 0303 health sciences, education.field_of_study, business.industry, SARS-CoV-2, Research, COVID-19, General Medicine, medicine.disease, Prognosis, Myasthenia gravis, 3. Good health, Neuromuscular diseases, Cross-Sectional Studies, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Cohort, Medicine, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: Background Due to their health condition, patients with neuromuscular diseases (NMD) are at greater risk of developing serious complications with COVID-19. The objective of this study was to analyze the prevalence of COVID-19 among NMD patients and the risk factors for its impact and severity during the first wave of the pandemic. Clinical data were collected from NMD-COVID-19 patients, between March 25, 2020 and May 11, 2020 in an anonymous survey carried out by expert physicians from the French Health Care Network Filnemus. Results Physicians reported 84 patients, including: 34 with myasthenia gravis, 27 with myopathy and 23 with neuropathy. COVID-19 had no effect on NMD for 48 (58%) patients and 48 (58%) patients developed low COVID-19 severity. COVID-19 caused the death of 9 (11%) NMD patients. Diabetic patients were at greater risk of dying. Patients with diabetes, hypertension or severe forms of NMD had a higher risk of developing a moderate or severe form of COVID-19. In our cohort, corticosteroids and other immunosuppressants were not significantly associated with higher COVID-19 severity for acquired NMD. Conclusion During this period, a small percentage of French NMD patients was affected by COVID-19 compared to the general French population and COVID-19 had a limited short-term effect on them. Diabetes, hypertension and a severe degree of NMD were identified as risk factors of unfavorable outcome following COVID-19. Conversely, in our cohort of patients with acquired NMD, corticosteroids or other immunosuppressants did not appear to be risk factors for more severe COVID-19.
Published: 2021

41. Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy.

Author: Jacquier, Arnaud, Ribault, Shams, Mendes, Michel, Lacoste, Nicolas, Risson, Valérie, Carras, Julien, Latour, Philippe, Nadaj‐Pakleza, Aleksandra, Stojkovic, Tanya, and Schaeffer, Laurent
Abstract: MORC2 gene encodes a ubiquitously expressed nuclear protein involved in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous mutations in MORC2 gene have been associated with a spectrum of disorders affecting the peripheral nervous system such as Charcot‐Marie‐Tooth (CMT2Z), spinal muscular atrophy‐like with or without cerebellar involvement, and a developmental syndrome associated with impaired growth, craniofacial dysmorphism and axonal neuropathy (DIGFAN syndrome). Such variability in clinical manifestations associated with the increasing number of variants of unknown significance detected by next‐generation sequencing constitutes a serious diagnostic challenge. Here we report the characterization of an in vitro model to evaluate the pathogenicity of variants of unknown significance based on MORC2 overexpression in a neuroblastoma cell line SH‐EP or cortical neurons. Likewise, we show that MORC2 mutants affect survival and trigger apoptosis over time in SH‐EP cell line. Furthermore, overexpression in primary cortical neurons increases apoptotic cell death and decreases neurite outgrowth. Altogether, these approaches establish the pathogenicity of two new variants p.Gly444Arg and p.His446Gln in three patients from two families. These new mutations in MORC2 gene are associated with autosomal dominant CMT and with adult late onset proximal motor neuropathy, further increasing the spectrum of clinical manifestations associated with MORC2 mutations. [ABSTRACT FROM AUTHOR]
Published: 2022
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42. Investigating glycogenosis type III patients with multi-parametric functional NMR imaging and spectroscopy

Author: Wary, Claire, Nadaj-Pakleza, Aleksandra, Laforêt, Pascal, Claeys, Kristl G., Carlier, Robert, Monnet, Aurélien, Fleury, Servanne, Baligand, Céline, Eymard, Bruno, Labrune, Philippe, and Carlier, Pierre G.
Published: 2010
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43. Deep phenotyping of an international series of patients with late‐onset dysferlinopathy

Author: Fernández-Eulate, Gorka, Querin, Giorgia, Moore, Ursula, Behin, Anthony, Masingue, Marion, Bassez, Guillaume, Leonard-Louis, Sarah, Laforêt, Pascal, Maisonobe, Thierry, Merle, Philippe-Edouard, Spinazzi, Marco, Solé, Guilhem, Kuntzer, Thierry, Bedat-Millet, Anne-Laure, Salort-Campana, Emmanuelle, Attarian, Shahram, Péréon, Yann, Feasson, Leonard, Graveleau, Julie, Nadaj-Pakleza, Aleksandra, Leturcq, France, Gorokhova, Svetlana, Krahn, Martin, Eymard, Bruno, Straub, Volker, Evangelista, Teresinha, Stojkovic, Tanya, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Newcastle University [Newcastle], Hôpital Raymond Poincaré [AP-HP], Université Paris-Saclay, Service de Neurophysiologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), CHU Amiens-Picardie, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), CHU Rouen, Normandie Université (NU), Hôpital de la Timone [CHU - APHM] (TIMONE), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Centre hospitalier de Saint-Nazaire, CHU Strasbourg, Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Gestionnaire, Hal Sorbonne Université, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)
Subjects: Adult, Dysferlinopathy, Pathology, medicine.medical_specialty, Necrosis, muscle pathology, [SDV]Life Sciences [q-bio], Muscle Proteins, Late onset, Inflammation, Dysferlin, 03 medical and health sciences, Camptocormia, 0302 clinical medicine, medicine, Humans, 030212 general & internal medicine, Myopathy, late onset, Retrospective Studies, Muscle biopsy, medicine.diagnostic_test, biology, business.industry, Membrane Proteins, Middle Aged, medicine.disease, 3. Good health, LGMDR2, dysferlin, [SDV] Life Sciences [q-bio], Neurology, Muscular Dystrophies, Limb-Girdle, biology.protein, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, myopathy
Abstract: International audience; Background: To describe the clinical, pathological, and molecular characteristics of late-onset (LO) dysferlinopathy patients.Methods: Retrospective series of patients with LO dysferlinopathy, defined by an age at onset of symptoms ≥30 years, from neuromuscular centers in France and the International Clinical Outcome Study for dysferlinopathy (COS). Patients with early-onset (EO) dysferlinopathy (
Published: 2021

44. Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

Author: Böhm, Johann, Chevessier, Frédéric, Koch, Catherine, Peche, Arielle G, Mora, Marina, Morandi, Lucia, Pasanisi, Barbara, Moroni, Isabella, Tasca, Giorgio, Fattori, Fabiana, Ricci, Enzo, Pénisson-Besnier, Isabelle, Nadaj-Pakleza, Aleksandra, Fardeau, Michel, Joshi, Pushpa Raj, Deschauer, Marcus, Romero, Norma Beatriz, Eymard, Bruno, and Laporte, Jocelyn
Published: 2014
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45. Neurology

Author: Sole, Guilhem, Mathis, Stephane, Friedman, Diane, Salort-Campana, Emmanuelle, Tard, Celine, Bouhour, Francoise, Magot, Armelle, Annane, Djillali, Clair, Bernard, Le Masson, Gwendal, Soulages, Antoine, Duval, Fanny, Carla, Louis, Violleau, Marie-Helene, Saulnier, Tiphaine, Segovia-Kueny, Sandrine, Kern, Lea, Antoine, Jean-Christophe, Beaudonnet, Guillemette, Audic, Frederique, Kremer, Laurent, Chanson, Jean-Baptiste, Nadaj-Pakleza, Aleksandra, Stojkovic, Tanya, Cintas, Pascal, Spinazzi, Marco, Foubert-Samier, Alexandra, Attarian, Shahram, Bordeaux population health (BPH), and Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Risk factors, COVID-19, Corticosteroids, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Prognosis, Myasthenia gravis, Immunosuppressant
Abstract: OBJECTIVE: To describe the clinical characteristics and outcomes of COVID-19 among patients with MG and identify factors associated with COVID-19 severity in MG patients. METHODS: The CO-MY-COVID registry was a multicenter, retrospective, observational cohort study conducted in neuromuscular referral centers and general hospitals of the FILNEMUS network (between March 1, 2020, and June 8, 2020), including MG patients with a confirmed or highly-suspected diagnosis of COVID-19. COVID-19 was diagnosed based on a polymerase chain reaction (PCR) test from a nasopharyngeal swab and/or SARS-CoV-2 serology, thoracic computed tomography (CT-scan), or typical symptoms. The main outcome was COVID-19 severity based on location of treatment/management (home, hospitalized in a medical unit, or in an intensive care unit). We collected information on demographic variables, general history, and risk factors for severe COVID-19. Multivariate ordinal regression models were used to identify factors associated with severe COVID-19 outcomes. RESULTS: Among 3,558 MG patients registered in the French database for rare disorders, 34 (0.96%) had COVID-19. The mean age at COVID-19 onset was 55.0 ±19.9 years (mean MG duration: 8.5 ± 8.5 years). By the end of the study period, 28 patients recovered from COVID-19, 1 remained affected, and 5 died. Only high Myasthenia Gravis Foundation of America (MGFA) class (≥IV) before COVID-19 was associated with severe COVID-19 (p=0.004); factors that were not associated included gender, MG duration, and medium MGFA classes (≤IIIb). The type of MG treatment had no independent effect on COVID-19 severity. CONCLUSIONS: This registry-based cohort study shows that COVID-19 had a limited effect on most patients, and immunosuppressive medications and corticosteroids used for MG management are not risk factors for poorer outcomes. However, the risk of severe COVID-19 is elevated in patients with high MGFA classes [odds ratio: 102.6 (4.4; 2,371.9)]. These results are important for establishing evidence-based guidelines for the management of MG patients during the COVID-19 pandemic.
Published: 2021

46. Comparison of Corticosteroid Tapering Regimens in Myasthenia Gravis

Author: Sharshar, Tarek, Porcher, Raphaël, Demeret, Sophie, Tranchant, Christine, Gueguen, Antoine, Eymard, Bruno, Nadaj-Pakleza, Aleksandra, Spinazzi, Marco, Grimaldi, Lamiae, Birnbaum, Simone, Friedman, Diane, Clair, Bernard, Hôpital Raymond Poincaré [Garches], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Pasteur [Paris] (IP), Centre Hospitalier Sainte Anne [Paris], Hôpital Hôtel-Dieu [Paris], Université Paris Descartes - Paris 5 (UPD5), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), CHU Strasbourg, Fondation Ophtalmologique Adolphe de Rothschild [Paris], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Hôpital Ambroise Paré [AP-HP], Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Hôpital Raymond Poincaré [AP-HP], and MYACOR Study Group: Philippe Aegerter, Djillali Annane, Anne-Catherine Aubé-Nathier, Francis Bolgert, Marie Fleury, Marie-Christine Durand, Pierre-Marie Gonnaud, Catherine Goulon-Goeau, Olivier Gout, Frédéric Lofaso, Christophe Marcel, Vivien Pautot, Isabelle Penisson-Besnier, Hélène Prigent, Benjamin Rohaut, Christophe Vial, Nicolas Weiss
Subjects: [SDV]Life Sciences [q-bio]
Abstract: International audience; Importance: The tapering of prednisone therapy in generalized myasthenia gravis (MG) presents a therapeutic dilemma; however, the recommended regimen has not yet been validated.Objective: To compare the efficacy of the standard slow-tapering regimen of prednisone therapy with a rapid-tapering regimen.Design: From June 1, 2009, to July 31, 2013, a multicenter, parallel, single-blind randomized trial was conducted to compare 2 regimens of prednisone tapering. Data analysis was conducted from February 18, 2019, to January 23, 2020. A total of 2291 adults with a confirmed diagnosis of moderate to severe generalized MG at 7 specialized centers in France were assessed for eligibility.Interventions: The slow-tapering arm included a gradual increase of the prednisone dose to 1.5 mg/kg every other day and a slow decrease once minimal manifestation status of MG was attained. The rapid-tapering arm consisted of immediate high-dose daily administration of prednisone, 0.75 mg/kg, followed by an earlier and rapid decrease once improved MG status was attained. Azathioprine, up to a maximum dose of 3 mg/kg/d, was prescribed for all participants.Main outcomes and measures: The primary outcome was attainment of minimal manifestation status of MG without prednisone at 12 months and without clinical relapse at 15 months. Intention-to-treat analysis was conducted.Results: Of the 2291 patients assessed, 2086 did not fulfill the inclusion criteria, 87 declined to participate, and 1 patient registered after trial closure. A total of 117 patients (58 in the slow-tapering arm and 59 in the rapid-tapering arm) were selected for inclusion by MG specialists and were randomized. The population included 62 men (53%); median age was 65 years (interquartile range, 35-69 years). The proportion of patients having met the primary outcome was higher in the rapid- vs slow-tapering arm (23 [39%] vs 5 [9%]), with a risk ratio of 3.61 (95% CI, 1.64-7.97; P < .001) after adjusting for center and thymectomy. The rapid-tapering regimen allowed sparing of a mean of 1898 mg (95% CI, -3121 to -461 mg) of prednisone over 1 year (ie, 5.3 mg/d per patient, P = .03). The number of serious adverse events did not differ significantly between the slow- vs rapid-tapering group (13 [22%] vs 21 [36%], P = .15).Conclusions and relevance: In patients with moderate to severe generalized MG who require high-dose prednisone with azathioprine therapy, rapid tapering of prednisone appears to be feasible, well tolerated, and associated with a good outcome.Trial registration: ClinicalTrials.gov Identifier: NCT00987116.
Published: 2021

47. Comparison of Corticosteroid Tapering Regimens in Myasthenia Gravis: A Randomized Clinical Trial

Author: Diane Friedman, Tarek Sharshar, Bruno Eymard, Aleksandra Nadaj-Pakleza, Marco Spinazzi, Bernard Clair, Simone Birnbaum, Christine Tranchant, Raphaël Porcher, Antoine Gueguen, Lamiae Grimaldi, S. Demeret, Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Neuropathologie expérimentale / Experimental neuropathology, Institut Pasteur [Paris] (IP)-Université Paris Cité (UPCité), Centre Hospitalier Sainte Anne [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Cité (UPCité), Hôpital Hôtel-Dieu [Paris], UFR Médecine [Santé] - Université Paris Cité (UFR Médecine UPCité), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Strasbourg, CHU Rothschild [AP-HP], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Novartis Roche Teva Pharmaceutical Industries Ministère des Affaires Sociales et de la Santé, reported receiving nonfinancial support from Allergan and nonfinancial support from Merz outside the submitted work. Dr Gueguen reported receiving grants from French Ministry of Social Affairs and Health during the conduct of the study, has received honoraria and consulting fees from Novartis, Roche, Merck-Serono, Sanofi-Genzyme, Teva, and Mylan, and has received travel funding from Roche, Novartis, Sanofi-Genzyme. A close relative is an Ipsen employee. No other disclosures were reported., Université Paris Cité - UFR Médecine [Santé] (UPCité UFR Médecine), Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Rothschild [AP-HP], HAL UVSQ, Équipe, Institut Pasteur [Paris]-Université de Paris (UP), Université de Paris (UP), Université de Paris - UFR Médecine Paris Centre [Santé] (UP Médecine Paris Centre), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)
Subjects: Pediatrics, medicine.medical_specialty, medicine.drug_class, [SDV]Life Sciences [q-bio], Population, Azathioprine, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Prednisone, Interquartile range, law, medicine, 030212 general & internal medicine, 10. No inequality, education, Original Investigation, education.field_of_study, business.industry, 3. Good health, [SDV] Life Sciences [q-bio], Regimen, Relative risk, Corticosteroid, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug
Abstract: International audience; Importance: The tapering of prednisone therapy in generalized myasthenia gravis (MG) presents a therapeutic dilemma; however, the recommended regimen has not yet been validated. Objective: To compare the efficacy of the standard slow-tapering regimen of prednisone therapy with a rapid-tapering regimen. Design: From June 1, 2009, to July 31, 2013, a multicenter, parallel, single-blind randomized trial was conducted to compare 2 regimens of prednisone tapering. Data analysis was conducted from February 18, 2019, to January 23, 2020. A total of 2291 adults with a confirmed diagnosis of moderate to severe generalized MG at 7 specialized centers in France were assessed for eligibility. Interventions: The slow-tapering arm included a gradual increase of the prednisone dose to 1.5 mg/kg every other day and a slow decrease once minimal manifestation status of MG was attained. The rapid-tapering arm consisted of immediate high-dose daily administration of prednisone, 0.75 mg/kg, followed by an earlier and rapid decrease once improved MG status was attained. Azathioprine, up to a maximum dose of 3 mg/kg/d, was prescribed for all participants. Main Outcomes and Measures: The primary outcome was attainment of minimal manifestation status of MG without prednisone at 12 months and without clinical relapse at 15 months. Intention-to-treat analysis was conducted. Results: Of the 2291 patients assessed, 2086 did not fulfill the inclusion criteria, 87 declined to participate, and 1 patient registered after trial closure. A total of 117 patients (58 in the slow-tapering arm and 59 in the rapid-tapering arm) were selected for inclusion by MG specialists and were randomized. The population included 62 men (53%); median age was 65 years (interquartile range, 35-69 years). The proportion of patients having met the primary outcome was higher in the rapid- vs slow-tapering arm (23 [39%] vs 5 [9%]), with a risk ratio of 3.61 (95% CI, 1.64-7.97; P
Published: 2021

48. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Author: Stella Mazurová, John W. Day, Mazen M. Dimachkie, Sónia Tizon, Anna Kostera-Pruszczyk, Tahseen Mozaffar, Joel Charrow, Chafic Karam, Ricardo Maré, Jean-Baptiste Noury, Dewi Guellec, Jorge Alonso-Pérez, Acary Souza Bulle Oliveira, Loren D M Pena, Tianyue Zhou, Sergey Illarioshkin, Nathan Thibault, Marcelo Rugiero, Can Ebru Bekircan-Kurt, Lauren Chase, Monica Sciacco, Mamatha Pasnoor, Jenny Billy, Mark Tarnopolsky, Fabien Zagnoli, Marie Wencel, Sevim Erdem-Ozdamar, Erin Hatcher, Madoka Mori, Céline Tard, Nicolas Mavroudakis, Emmanuelle Salort-Campana, Antonio Toscano, Shafeeq Ladha, Angela Genge, Ans T. van der Ploeg, Michela Guglieri, Judith Johnson, Fanny Duval, Loïc Danjoux, Christopher Hug, Robert D. Henderson, Robert Neel, Luca Solera, Aleksandra Nadaj-Pakleza, Silvia Boschi, Nizar Chahin, Maurizio Gualtiero Moggio, Peter Young, Priya S. Kishnani, Yin-Hsiu Chien, Alexandra Kautzky-Willer, Claire Questienne, Francoise Bouhour, Gabriela A Niizawa, Ekaterina Fedotova, Tiziana Enrica Mongini, Harmke A. van Kooten, Vera Malinova, Sina Helms, Shahram Attarian, Patrick Deegan, Guilhem Sole, Hamilton Cirne, Ludwig Gutmann, Kenneth I. Berger, Laura Carrera Garcia, N A M E van der Beek, Stephanie Dearmey, Suzara Souto Lopes, Anna Potulska-Chromik, Joao Lindolfo Borges, Yesim Parman, Michaela Riedl, Sergey A. Klyushnikov, Olivier Huynh-Ba, Gauthier Remiche, Paula R. Clemens, Andrea Swenson, Stephan Wenninger, Miriam Hufgard-Leitner, Eugen Mengel, Kristina An Haack, Eve Gandolfo, David Reyes-Leiva, Jean-Baptiste Davion, Chester Whitley, Young Chul Choi, Patricia Altemus, Maria Judit Molnar, Perry B. Shieh, Matthias Vorgerd, Julia B Hennermann, Cheryl Smith, Volker Straub, Lauren Noll, Pascal Laforet, Andres Nascimento Osorio, Clarisa Maxit, Anne-Catherine Aubé-Nathier, Ozlem Goker-Alpan, Olimpia Musumeci, Louisa Müller-Miny, Tarekegn Hiwot, Jacqui Langton, Christopher Nance, Daniel Natera-de Benito, Jeffrey Statland, Nicola Longo, Vivien Pautot, Zoltan Grosz, Thomas Stulnig, Matthias Boentert, Anne-Katrin Guettsches, Chong Yew Tan, Erik Ortega, Derralynn Hughes, Hacer Durmus Tekce, Mark Roberts, Lenka Linková, Amel Karaa, Hani Kushlaf, Anthony Behin, Margarida Ramos Lopes, Jordi Diaz-Manera, Alessia Pugliese, Paulo Victor Sgobbi Souza, Carrie Bailey, Jennifer B Avelar, Hirofumi Komaki, Frederic Taithe, Benedikt Schoser, Sabine Specht, Kathryn E Brown, Gerson Carvalho, and Pediatrics
Subjects: medicine.medical_specialty, Population, Walking, FEV1/FVC ratio, stomatognathic system, SDG 3 - Good Health and Well-being, Double-Blind Method, Internal medicine, Statistical significance, Child, Preschool, Enzyme Replacement Therapy, Humans, Treatment Outcome, Glycogen Storage Disease Type II, alpha-Glucosidases, medicine, Respiratory function, Adverse effect, education, Child, Preschool, Alglucosidase alfa, education.field_of_study, business.industry, Standard treatment, virus diseases, Enzyme replacement therapy, Neurology (clinical), business, medicine.drug
Abstract: Summary Background Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of acid α-glucosidase (GAA) and accumulation of lysosomal glycogen. We assessed the safety and efficacy of avalglucosidase alfa, a recombinant human GAA enzyme replacement therapy specifically designed for enhanced mannose-6-phosphate-receptor targeting and enzyme uptake aimed at increased glycogen clearance, compared with the current approved standard of care, alglucosidase alfa, in patients with late-onset Pompe disease. Methods We did a randomised, double-blind, phase 3 trial at 55 sites in 20 countries. We enrolled individuals (aged ≥3 years) with enzymatically confirmed late-onset Pompe disease who had never received treatment. We used a centralised treatment allocation system to randomly allocate participants to either avalglucosidase alfa or alglucosidase alfa. Participants and investigators were unaware of their treatment allocation. The primary outcome measure was change from baseline to week 49 in upright forced vital capacity percent (FVC%) predicted. We used a hierarchical fixed sequential testing strategy, whereby non-inferiority of avalglucosidase alfa compared with alglucosidase alfa was assessed first, with a non-inferiority margin of 1·1. If non-inferiority was seen, then superiority was tested with a 5% significance level. The key secondary objective was effect on functional endurance, measured by the 6-minute walk test (6MWT). Safety was assessed, including treatment-emergent adverse events and infusion-associated reactions. The modified intent-to-treat population was the primary analysis population for all efficacy analyses. The safety population was the analysis population for safety analyses. This trial is registered with ClinicalTrials.gov , NCT02782741 . We report results of the 49-week primary analysis period. Findings Between Nov 2, 2016, and March 29, 2019, 100 participants were randomly allocated avalglucosidase alfa (n=51) or alglucosidase alfa (n=49). Treatment with avalglucosidase alfa resulted in a least-squares mean improvement in upright FVC% predicted of 2·89% (SE 0·88) compared with 0·46% (0·93) with alglucosidase alfa at week 49 (difference 2·43% [95% CI −0·13 to 4·99]). Non-inferiority was shown because the lower bound of the 95% CI for the difference far exceeded the predefined non-inferiority margin but did not exclude 0 (p=0·0074). Superiority was not reached (p=0·063), so formal testing was stopped, as per the testing hierarchy. Improvements were also seen in the 6MWT with avalglucosidase alfa compared with alglucosidase alfa, with greater increases in distance covered (difference 30·01 m [95% CI 1·33 to 58·69]) and percent predicted (4·71% [0·25 to 9·17]). Treatment-emergent adverse events potentially related to treatment were reported in 23 (45%) of 51 participants in the avalglucosidase alfa group and in 24 (49%) of 49 in the alglucosidase alfa group, and infusion-associated reactions were reported in 13 (26%) participants in the avalglucosidase alfa group and 16 (33%) in the alglucosidase alfa group. Of the five trial withdrawals, all in the alglucosidase alfa group, four were due to adverse events, including two infusion-associated reactions. Serious treatment-emergent adverse events were reported in eight (16%) participants who received avalglucosidase alfa and in 12 (25%) who received alglucosidase alfa. One participant treated with alglucosidase alfa died because of acute myocardial infarction determined to be unrelated to treatment. Antidrug antibody responses were similar in both groups. High and persistent titres (≥12 800) and neutralising antibodies were more common with alglucosidase alfa (in 16 [33%] participants) than with avalglucosidase alfa (ten [20%]). Interpretation We consider that this study provides evidence of clinically meaningful improvement with avalglucosidase alfa therapy over alglucosidase alfa in respiratory function, ambulation, and functional endurance, with no new safety signals reported. An open-label extended-treatment period is ongoing to confirm the long-term safety and efficacy of avalglucosidase alfa, with the aim for this therapy to become the new standard treatment in late-onset Pompe disease. Funding Sanofi Genzyme.
Published: 2021

49. Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry

Author: Semplicini, C., de Antonio, M., Taouagh, N., Béhin, A., Bouhour, F., Echaniz-Laguna, A., Magot, A., Nadaj-Pakleza, A., Orlikowski, D., Sacconi, S., Salort-Campana, E., Solé, G., Tard, Celine, Zagnoli, F., Jean-Yves, H., Hamroun, D., Laforêt, P., Attarian, S., Aubé-Nathier, A. C., Arrassi, A., Bassez, G., Bedat-Millet, A. L., Bouibede, F., Boyer, F. C., Caillaud, C., Canal, A., Carlier, R. Y., Chanson, J. B., Chapon, F., Cintas, P., Deibener-Kaminsky, J., Demurger, F., Desnuelle, C., Durieu, I., Eymard, B., Feasson, L., Fournier, M., Froissart, R., Furby, A., Garcia, P. Y., Germain, D. P., Ghorab, K., Morales, R. J., Krim, E., Labauge, P., Lacour, A., Lagrange, E., Lefeuvre, C., Leguy-Seguin, V., Leonard-Louis, S., Magy, L., Masseau, A., Michaud, M., Minot-Myhié, M. C., Nicolas, G., Nollet, S., Not, A., Noury, J. B., Ollivier, G., Péréon, Y., Perez, Thierry, Perniconi, B., Piraud, M., Petiot, P., Pouget, J., Praline, J., Prigent, H., Renard, D., Spinazzi, M., Stojkovic, T., Taithe, F., Tiffreau, Vincent, Vincent, D., Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 (URePSSS), and Université d'Artois (UA)-Université du Littoral Côte d'Opale (ULCO)-Université de Lille
Subjects: Adult, Male, Pediatrics, medicine.medical_specialty, Registry, alglucosidase alfa, Adolescent, [SDV]Life Sciences [q-bio], Walk Test, Disease, Sitting, 03 medical and health sciences, FEV1/FVC ratio, Young Adult, Glycogen storage disease type II, Genetics, medicine, Humans, Respiratory function, Prospective Studies, Registries, Child, Alglucosidase alfa, Genetics (clinical), 030304 developmental biology, Aged, 0303 health sciences, late onset Pompe disease, business.industry, 030305 genetics & heredity, alpha-Glucosidases, Enzyme replacement therapy, Middle Aged, medicine.disease, Respiratory Function Tests, Treatment Outcome, Ceiling effect, Female, France, business, medicine.drug, enzyme replacement therapy
Abstract: Despite a wide clinical spectrum, the adult form of Pompe disease is the most common one, and represents more than 90% of diagnosed patients in France. Since the marketing of enzyme replacement therapy (alglucosidase alfa, Myozyme), all reports to date in adults demonstrated an improvement of the walking distance, and a trend toward stabilization of respiratory function, but the majority of these studies were less than 5 years of duration. We report here the findings from 158 treated patients included in the French Pompe Registry, who underwent regular clinical assessments based on commonly used standardized tests (6-minute walking test, MFM scale, sitting vital capacity, MIP and MEP). For longitudinal analyses, the linear mixed effects models were used to assess trends in primary endpoints over time under ERT. A two-phase model better described the changes in distance traveled in the 6-minute walk test and MFM. 6MWT showed an initial significant increase (1.4% ± 0.5/year) followed by a progressive decline (-2.3%/year), with a cut-off point at 2.2 years. A similar pattern was observed in total MFM score (6.6% ± 2.3/year followed by a - 1.1%/year decline after 0.5 years). A single-phase decline with a slope of -0.9 ± 0.1%/year (P < .001) was observed for FVC, and MEP remained stable over the all duration of follow-up. This study provides further evidence that ERT improves walking abilities and likely stabilizes respiratory function in adult patients with Pompe disease, with a ceiling effect for the 6MWT in the first 3 years of treatment.
Published: 2020

50. Homozygous C-terminal loss-of-function NaV1.4 variant in a patient with congenital myasthenic syndrome

Author: Aleksandra Nadaj-Pakleza, Michael G. Hanna, Roope Männikkö, Emma Matthews, Emmanuel Fournier, Andoni Echaniz-Laguna, Valérie Biancalana, Hôpital Bicêtre, Petites Molécules de neuroprotection, neurorégénération et remyélinisation, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institute of Neurology [London], University College of London [London] (UCL), and univOAK, Archive ouverte
Subjects: [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Bioinformatics, channels, Neuromuscular junction, Article, Ophthalmoparesis, 03 medical and health sciences, 0302 clinical medicine, Ptosis, medicine, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], business.industry, Sodium channel, Muscle weakness, Skeletal muscle, Congenital myasthenic syndrome, medicine.disease, Congenital myopathy, myasthenia, Psychiatry and Mental health, medicine.anatomical_structure, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Surgery, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), neuromuscular, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: Congenital myasthenic syndromes (CMS) are a group of rare inherited disorders of neuromuscular transmission.1 Clinical presentations range from predominant ptosis, ophthalmoparesis, facial and bulbar weakness, and generalised muscle weakness to predominant limb girdle weakness with sparing of the eye and face muscles. Symptoms may appear during the neonatal period, late childhood, adolescence or even adulthood. Clinical presentation and response to treatment may be influenced by the underlying molecular mechanism. Mutations in more than 30 genes have been identified as causing CMS.1 The primary pathogenic mechanism is defective neuromuscular junction (NMJ) transmission but may include central nervous system and skeletal muscle involvement. Biallelic loss-of-function (LOF) genetic mutations in SCN4A encoding skeletal muscle sodium channel NaV1.4 are a rare cause of CMS.2–6 Heterozygous carriers are asymptomatic, demonstrating recessive inheritance. NaV1.4 conducts the depolarising current of the skeletal muscle action potential that when reduced results in attenuated action potentials and muscle force. Biallelic SCN4A LOF mutations can also be found in patients diagnosed with congenital myopathy6–8 and occasionally hypokalaemic periodic paralysis (hypoPP).9 10 A common pathogenic mechanism can account for the notion that patients diagnosed with SCN4A -associated CMS may present with additional features of myopathy5 or hypoPP.4 The mutant NaV1.4 channels within SCN4A LOF clinical spectra show distinct functional defects. Mutations associated with congenital myopathy show a range of alterations on NaV1.4 channel function but one allele is often null.6–8 Hitherto reported CMS-associated mutations enhance channel inactivation2–5 and typically affect fourth voltage sensing domain (VSD) of NaV1.4, the key VSD implicated in control of …
Published: 2020

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