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2. Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study

Author

Chiriboga, Claudia A., Bruno, Claudio, Duong, Tina, Fischer, Dirk, Mercuri, Eugenio, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Jaber, Birgit, Gorni, Ksenija, Kletzl, Heidemarie, Carruthers, Imogen, Martin, Carmen, Warren, Francis, Scalco, Renata S., Wagner, Kathryn R., and Muntoni, Francesco

Published
2023
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6. Seven-Year Experience From the National Institute of Neurological Disorders and Stroke-Supported Network for Excellence in Neuroscience Clinical Trials.

Author

Cudkowicz, Merit, Chase, Marianne, Coffey, Christopher, Ecklund, Dixie, Thornell, Brenda, Lungu, Codrin, Mahoney, Katy, Gutmann, Laurie, Shefner, Jeremy, Staley, Kevin, Bosch, Michael, Foster, Eric, Long, Jeffrey, Bayman, Emine, Torner, James, Yankey, Jon, Peters, Richard, Huff, Trevis, Conwit, Robin, Shinnar, Shlomo, Patch, Donna, Darras, Basil, Ellis, Audrey, Packer, Roger, Marder, Karen, Chiriboga, Claudia, Moran, Joyce, Nikolov, Blagovest, Factor, Stewart, Seeley, Carole, Greenberg, Steven, Amato, Anthony, DeGregorio, Sara, Simuni, Tanya, Ward, Tina, Kissel, John, Kolb, Stephen, Bartlett, Amy, Quinn, Joseph, Keith, Kellie, Levine, Steven, Gilles, Nadege, Coyle, Patricia, Lamb, Jessica, Wolfe, Gil, Crumlish, Annemarie, Mejico, Luis, Iqbal, Muhammad, Bowen, James, Tongco, Caryl, Nabors, Louis, Bashir, Khurram, Benge, Melanie, Canamar, Catherine, Glauser, Tracy, Woo, Daniel, Molloy, Angela, Clark, Peggy, Vollmer, Timothy, Stein, Alexander, Barohn, Richard, Dimachkie, Mazen, Le Pichon, Jean-Baptiste, Benatar, Michael, Steele, Julie, Wechsler, Lawrence, Clemens, Paula, Amity, Christine, Holloway, Robert, Annis, Christine, Goldberg, Mark, Andersen, Mariam, Iannaccone, Susan, Smith, A, Singleton, J, Doudova, Mariana, Haley, E, Quigg, Mark, Lowenhaupt, Stephanie, Malow, Beth, Adkins, Karen, Clifford, David, Teshome, Mengesha, Connolly, Noreen, Oskarsson, Björn, Dobkin, Bruce, McDonald, Craig, Henricson, Erik, and Henchcliffe, Claire

Subjects
Clinical Trials as Topic, Humans, National Institute of Neurological Disorders and Stroke (U.S.), Nervous System Diseases, Neurology, Neurosciences, United States
Abstract

IMPORTANCE: One major advantage of developing large, federally funded networks for clinical research in neurology is the ability to have a trial-ready network that can efficiently conduct scientifically rigorous projects to improve the health of people with neurologic disorders. OBSERVATIONS: National Institute of Neurological Disorders and Stroke Network for Excellence in Neuroscience Clinical Trials (NeuroNEXT) was established in 2011 and renewed in 2018 with the goal of being an efficient network to test between 5 and 7 promising new agents in phase II clinical trials. A clinical coordinating center, data coordinating center, and 25 sites were competitively chosen. Common infrastructure was developed to accelerate timelines for clinical trials, including central institutional review board (a first for the National Institute of Neurological Disorders and Stroke), master clinical trial agreements, the use of common data elements, and experienced research sites and coordination centers. During the first 7 years, the network exceeded the goal of conducting 5 to 7 studies, with 9 funded. High interest was evident by receipt of 148 initial applications for potential studies in various neurologic disorders. Across the first 8 studies (the ninth study was funded at end of initial funding period), the central institutional review board approved the initial protocol in a mean (SD) of 59 (21) days, and additional sites were added a mean (SD) of 22 (18) days after submission. The median time from central institutional review board approval to first site activation was 47.5 days (mean, 102.1; range, 1-282) and from first site activation to first participant consent was 27 days (mean, 37.5; range, 0-96). The median time for database readiness was 3.5 months (mean, 4.0; range, 0-8) from funding receipt. In the 4 completed studies, enrollment met or exceeded expectations with 96% overall data accuracy across all sites. Nine peer-reviewed manuscripts were published, and 22 oral presentations or posters and 9 invited presentations were given at regional, national, and international meetings. CONCLUSIONS AND RELEVANCE: NeuroNEXT initiated 8 studies, successfully enrolled participants at or ahead of schedule, collected high-quality data, published primary results in high-impact journals, and provided mentorship, expert statistical, and trial management support to several new investigators. Partnerships were successfully created between government, academia, industry, foundations, and patient advocacy groups. Clinical trial consortia can efficiently and successfully address a range of important neurologic research and therapeutic questions.

Published
2020

7. Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial

Author

Strauss, Kevin A., Farrar, Michelle A., Muntoni, Francesco, Saito, Kayoko, Mendell, Jerry R., Servais, Laurent, McMillan, Hugh J., Finkel, Richard S., Swoboda, Kathryn J., Kwon, Jennifer M., Zaidman, Craig M., Chiriboga, Claudia A., Iannaccone, Susan T., Krueger, Jena M., Parsons, Julie A., Shieh, Perry B., Kavanagh, Sarah, Tauscher-Wisniewski, Sitra, McGill, Bryan E., and Macek, Thomas A.

Published
2022
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8. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

Author

Strauss, Kevin A., Farrar, Michelle A., Muntoni, Francesco, Saito, Kayoko, Mendell, Jerry R., Servais, Laurent, McMillan, Hugh J., Finkel, Richard S., Swoboda, Kathryn J., Kwon, Jennifer M., Zaidman, Craig M., Chiriboga, Claudia A., Iannaccone, Susan T., Krueger, Jena M., Parsons, Julie A., Shieh, Perry B., Kavanagh, Sarah, Wigderson, Melissa, Tauscher-Wisniewski, Sitra, McGill, Bryan E., and Macek, Thomas A.

Published
2022
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9. Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy

Author

McGrattan, Katlyn, primary, Cerchiari, Antonella, additional, Conway, Eleanor, additional, Berti, Beatrice, additional, Finkel, Richard, additional, Muntoni, Francesco, additional, Mercuri, Eugenio, additional, Fanelli, Lavinia, additional, Coratti, Giorgia, additional, Sansone, Valeria, additional, Albamonte, Emilio, additional, Trucco, Federica, additional, Latini, Sofia, additional, Bertini, Enrico, additional, d'Amico, Adele, additional, Doglio, Luca, additional, Stimpson, Georgia, additional, Baranello, Giovanni, additional, Scoto, Mariacristina, additional, Rohwer, Annemarie, additional, Edel, Lisa, additional, Lofra, Robert Muni, additional, Bettolo, Chiara Marini, additional, Young, Sally Dunaway, additional, Day, John, additional, Duong, Tina, additional, Darras, Basil, additional, Pasternak, Amy, additional, Montes, Jacqueline, additional, Rodriguez-Torres, Ralph, additional, Chiriboga, Claudia A., additional, Hirano, Michio, additional, Civitello, Matthew, additional, Cunningham, Zarazuela Zolkipli, additional, Brandsema, John, additional, Mayer, Hank, additional, Glanzmann, Allan, additional, Karagiannis, Joannis, additional, Baldinetti, Francesca, additional, Khader, Leila, additional, Costa, Patrizia, additional, Lovato, Valeria, additional, and Rastelletti, Irene, additional

Published
2024
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10. Delphi Consensus Panel on Assessing Clinically Meaningful Treatment Outcomes in Adults Living with Spinal Muscular Atrophy (SMA) (P2-11.007)

Author

Sully, Kate, primary, Chiriboga, Claudia, additional, Duong, Tina, additional, Erbas, Yasemin, additional, Glascock, Jacqueline, additional, Gusset, Nicole, additional, Muni-Lofra, Robert, additional, O’Connell, Colleen, additional, Vázquez-Costa, Juan F., additional, Walter, Maggie C., additional, Guittari, Carol Jean, additional, Cochrane, James, additional, Townson, Louisa D., additional, Kufakwaro, Jason, additional, Marciniak, Anne, additional, Riley, Danielle, additional, and Nam, Julian, additional

Published
2024
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11. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

Author

Volpe, Joseph J., Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Daron, Aurore, Delstanche, Stéphanie, Bruninx, Romain, Dal Farra, Fabian, Schneider, Olivier, Deconinck, Nicolas, Balikova, Irina, Delbeke, Patricia, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, Goemans, Nathalie, Casteels, Ingele, De Waele, Liesbeth, Cassiman, Catherine, Prové, Lies, Kinoo, David, Vancampenhout, Lisa, Van Den Hauwe, Marleen, Van Impe, Annelies, Prufer de Queiroz Campos Araujo, Alexandra, Chacon Pereira, Aline, Nardes, Flávia, Haefeli, Lorena, Rossetto, Julia, Ferreira Rebel, Marcos, Almeida Pereira, Jaqueline, Campbell, Craig, Sharan, Sapna, McDonald, Wendy, Scholtes, Cheryl, Mah, Jean, Sframeli, Maria, Chiu, Angela, Hagel, Jane, Oskoui, Maryam, Beneish, Raquel, Cariou-Palmer, Gaela, Pham, Connie, Toffoli, Daniela, Arpin, Stephanie, Turgeon Desilets, Sarah, Wang, Yi, Hu, Chaoping, Huan, Jianfeng, Qian, Chen, Shen, Li, Xiao, Ying, Zhou, Zhenxuan, Li, Hui, Wang, Sujuan, Xiong, Hui, Chang, Xingzhi, Dong, Hui, Liu, Ying, Sang, Tian, Wei, Cuijie, Wen, Jing, Cao, Yiwen, Ly, Xingyao, Zhao, Jingjing, Li, Wenzhu, Qin, Lun, Barisic, Nina, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Najdanovic, Boris, Skugor, Marin, Servais, Laurent, Boespflug-Tanguy, Odile, Gidaro, Teresa, Seferian, Andreea, De Lucia, Silvana, Barreau, Emmanuel, Mnafek, Nabila, Momtchilova, Marta Milkova, Peche, Helene, Valherie, Carole, Grange, Allison, Lilien, Charlotte, Milascevic, Darko, Tachibana, Shotaro, Ravelli, Claudia, Cardas, Ruxandra, Taytard, Jessica, Aubertin, Guillaume, Vanden Brande, Laure, Davion, Jean-Baptiste, Coopman, Stephanie, Bouacha, Ikram, Debruyne, Philippe, Defoort, Sabine, Derlyn, Gilles, Leroy, Florian, Danjoux, Loïc, Guilbaud, Julie, Desguerre, Isabelle, Barnérias, Christine, Semeraro, Michaela, Bremond-Gignac, Dominique, Bruere, Lenaic, Rateaux, Maxence, Deladrière, Élodie, Germa, Virginie, Pereon, Yann, Mercie, Sandra, Billaud, Fanny, Le Goff, Lucie, Letellier, Guy, Vuillerot, Carole, Portefaix, Aurélie, De-Montferrand, Camille, Le-Goff, Laure, Fontaine, Stephanie, Saidi, Manel, Bouzid, Nabil, Barriere, Aurélie, Tinat, Marie, Kirschner, Janbernd, Dreesbach, Michelle, Lagréze, Wolf, Michaelis, Bettina, Molnar, Fanni, Seger, Dorina, Vogt, Sibylle, Bertini, Enrico, D'Amico, Adele, Petroni, Sergio, Bonetti, Anna Maria, Carlesi, Adelina, Mizzoni, Irene, Bruno, Claudio, Priolo, Enrico, Rao, Giuseppe, Morando, Simone, Tacchetti, Paola, Zuffi, Ambra, Comi, Giacomo Pietro, Brusa, Roberta, Corti, Stefania, Daniele, Velardo, Govoni, Alessandra, Magri, Francesca, Minorini, Valeria, Osnaghi, Silvia Gabriella, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amaqlia, Meneri, Megi, Zoppas, Francesca, Parente, Valeria, Baranello, Giovanni, Masson, Riccardo, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Arnoldi, Maria Teresa, Vigano, Marta, Zanin, Riccardo, Mercuri, Eugenio, Antonaci, Laura, de Sanctis, Roberto, Pane, Marika, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Gugliemo, Orazi, Lorenzo, Coratti, Giorgia, Haginoya, Kazuhiro, Kato, Atsuko, Morishita, Yuko, Kira, Ryutaro, Akiyama, Kiyomu, Goto, Miwako, Mori, Yujiro, Okamoto, Misato, Tsutsui, Saki, Takatsuji, Yuta, Tanaka, Aya, Komaki, Hirofumi, Omori, Miina, Suzuki, Ippei, Takeuchi, Mizuki, Todoroki, Daisuke, Watanabe, Seji, Matsubayashi, Tomoko, Inakazu, Emi, Nagura, Hiroe, Suzuki, Akira, Usui, Manami, Ishikawa, Nobutsune, Harada, Yousuke, Fudeyasu, Kenishi, Hirata, Kazuhiko, Michiue, Kana, Ueda, Kazuyuki, Saito, Kayoko, Fujitani, Junko, Arakawa, Reiko, Takano, Kozue, Yashiro, Shigeko, Seki, Maiko, Sano, Nozomi, Fukuyama, Koji, Matsumoto, Yuki, Miyazaki, Hirofumi, Shibata, Minoru, Kobayashi, Kyoko, Nakamura, Yukie, Takeshima, Yasuhiro, Kuma, Moe, Kostera-Pruszczyk, Anna, Fraczek, Anna, Jedrzejowska, Maria, Lusakowska, Anna, Czeszyk-Piotrowicz, Agnieszka, Hautz, Wojciech, Rakusiewicz, Klaudia, Burlewicz, Malgorzata, Gierlak-Wojcicka, Zuzanna, Kepa, Malwina, Sikorski, Adam, Sobieraj, Marcin, Mazurkiewicz-Beldzinska, Maria, Lemska, Anna, Modrzejewska, Sandra, Koberda, Mateusz, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Steinborn, Barbara, Dalz, Magdalena, Grabowska, Julia, Hajduk, Wojciech, Janasiewicz-Karachitos, Justyna, Klimas, Monika, Stopa, Marcin, Gajewska, Ewa, Pusz, Beata, Vlodavets, Dmitry, Melnik, Evgenia, Leppenen, Natalya, Yupatova, Nataliya, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Milic Rasic, Vedrana, Brankovic, Vesna, Kosac, Ana, Djokic, Olivera, Jakšic, Vesna, Pepic, Ana, Martinovic, Jelena, Munell Casadesus, Francina, Tizzano, Eduardo, Martín Begué, Nieves, Wolley Dod, Charlotte, Subira, Olaia, Planas Pascual, Bernat, Toro Tamargo, Esther, Madruga Garrido, Marcos, Medina Romero, José David, Salinas, Marta Peña, Nascimento Osorio, Andrés, Díaz Cortés, Ana, Jiménez Gañan, Enrique, Suh, Simone Dowon, Medina Cantillo, Julita, Moya, Obdulia, Padros, Nuria, Urraca, Sandra Roca, Valdivia, Hugo Gonzalez, Pascual Pascual, Samuel, de Manuel, Sofía, Martin, Susana Noval, Burnham, Paul, Espinosa, Sandra, Moreno, Mercedes Martinez, Topaloglu, Haluk, Oncel, Ibrahim, Eroglu Ertugru, Nesibe, Konuskan, Bahadir, Eldem, Bora, Kadayifçilar, Sibel, Alemdaroglu, Ipek, Karaduman, Aynur Ayse, Yilmaz, Oznur Tunca, Bilgin, Neslihan, Sari, Seher, Chiriboga, Claudia, Lee, John J., Rome-Martin, Donnielle, Day, John W., Beres, Shannon, Duong, Tina, Gee, Richard, Dunaway Young, Sally, Fuerst-Recktenwald, Sabine, Marquet, Anne, Muelhardt, Nicoletta, Trundell, Dylan, Mazzone, Elena S, Nascimento, Andres, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Staunton, Hannah, Yeung, Wai Yin, Martin, Carmen, Fontoura, Paulo, and Day, John W

Published
2022
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12. Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!

Author

Burnette, W, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry, Finanger, Erika, Coffey, Christopher, Yankey, Jon, Cudkowicz, Merit, McGovern, Michelle, McNeil, D, Arnold, W, Kissel, John, Bartlett, Amy, Kolb, Stephen, Kingsley, Allison, Swoboda, Kathryn, Reyna, Sandra, Sakonju, Ai, Darras, Basil, Shell, Richard, Kuntz, Nancy, Castro, Diana, Iannaccone, Susan, Parsons, Julie, Connolly, Anne, Chiriboga, Claudia, and McDonald, Craig

Subjects
Altruism, Healthy controls, Network, Social media, Spinal muscle atrophy
Abstract

BACKGROUND/AIMS: Recruitment and retention of research participants are challenging and critical components of successful clinical trials and natural history studies. Infants with spinal muscular atrophy (SMA) have been a particularly challenging population to study due to their fragile and complex medical issues, poor prognosis and, until 2016, a lack of effective therapies. Recruitment of healthy infants into clinical trials and natural history studies is also challenging and sometimes assumed to not be feasible. METHODS: In 2011, our group initiated a two-year, longitudinal natural history study of infants with SMA and healthy infant controls to provide data to assist in the analysis and interpretation of planned clinical trials in infants with SMA. The recruitment goal was to enroll 27 infants less than 6 months of age with SMA and 27 age-matched healthy infants within the two-year enrollment period. A detailed recruitment and retention plan was developed for this purpose. In addition, a survey was administered to participant families to understand the determinants of participation in the study. RESULTS: All healthy infants were recruited within the studys first year and 26 SMA infants were recruited within the two-year recruitment period. Thirty-eight participant families responded to the recruitment determinants survey. Nearly half of respondents (18/38, 48%) reported that they first heard of the study from their physician or neurologist. The most common reason to decide to enroll their infant (22/38, 58%) and to remain in the study (28/38, 74%) was their understanding of the importance of the study. Thematic recruitment tools such as a study brochure, video on social media, and presentations at advocacy meetings were reported to positively influence the decision to enroll. CONCLUSIONS: A proactive, thematic and inclusive recruitment and retention plan that effectively communicates the rationale of a clinical study and partners with patients, advocacy groups and the local communities can effectively recruit participants in vulnerable populations. Recommendations for the proactive integration of recruitment and retention plans into clinical trial protocol development are provided.

Published
2018

13. Natural history of infantile-onset spinal muscular atrophy.

Author

Kolb, Stephen, Coffey, Christopher, Yankey, Jon, Krosschell, Kristin, Arnold, W, Rutkove, Seward, Swoboda, Kathryn, Reyna, Sandra, Sakonju, Ai, Darras, Basil, Shell, Richard, Kuntz, Nancy, Castro, Diana, Parsons, Julie, Connolly, Anne, Chiriboga, Claudia, Burnette, W, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry, Finanger, Erika, Cudkowicz, Merit, McGovern, Michelle, McNeil, D, Finkel, Richard, Iannaccone, Susan, Kaye, Edward, Kingsley, Allison, Renusch, Samantha, McGovern, Vicki, Wang, Xueqian, Zaworski, Phillip, Prior, Thomas, Burghes, Arthur, Bartlett, Amy, Kissel, John, and McDonald, Craig

Subjects
Biomarkers, Child, Preschool, Cohort Studies, Female, Humans, Infant, Longitudinal Studies, Male, Prospective Studies, Spinal Muscular Atrophies of Childhood, Survival of Motor Neuron 1 Protein, Survival of Motor Neuron 2 Protein
Abstract

OBJECTIVE: Infantile-onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death preceding age 2. Clinical trials in this population require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes. METHODS: A longitudinal, multicenter, prospective natural history study enrolled 26 SMA infants and 27 control infants aged

Published
2017

14. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

Author

Day, John W, Finkel, Richard S, Chiriboga, Claudia A, Connolly, Anne M, Crawford, Thomas O, Darras, Basil T, Iannaccone, Susan T, Kuntz, Nancy L, Peña, Loren D M, Shieh, Perry B, Smith, Edward C, Kwon, Jennifer M, Zaidman, Craig M, Schultz, Meredith, Feltner, Douglas E, Tauscher-Wisniewski, Sitra, Ouyang, Haojun, Chand, Deepa H, Sproule, Douglas M, Macek, Thomas A, and Mendell, Jerry R

Published
2021
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15. Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.

Author

Kolb, Stephen, Coffey, Christopher, Yankey, Jon, Krosschell, Kristin, Arnold, W, Rutkove, Seward, Swoboda, Kathryn, Reyna, Sandra, Sakonju, Ai, Darras, Basil, Shell, Richard, Kuntz, Nancy, Castro, Diana, Iannaccone, Susan, Parsons, Julie, Connolly, Anne, Chiriboga, Claudia, Burnette, W, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry, Finanger, Erika, Cudkowicz, Merit, McGovern, Michelle, McNeil, D, Finkel, Richard, Kaye, Edward, Kingsley, Allison, Renusch, Samantha, McGovern, Vicki, Wang, Xueqian, Zaworski, Phillip, Prior, Thomas, Burghes, Arthur, Bartlett, Amy, Kissel, John, and McDonald, Craig

Abstract

OBJECTIVE: This study prospectively assessed putative promising biomarkers for use in assessing infants with spinal muscular atrophy (SMA). METHODS: This prospective, multi-center natural history study targeted the enrollment of SMA infants and healthy control infants less than 6 months of age. Recruitment occurred at 14 centers within the NINDS National Network for Excellence in Neuroscience Clinical Trials (NeuroNEXT) Network. Infant motor function scales and putative electrophysiological, protein and molecular biomarkers were assessed at baseline and subsequent visits. RESULTS: Enrollment began November, 2012 and ended September, 2014 with 26 SMA infants and 27 healthy infants enrolled. Baseline demographic characteristics of the SMA and control infant cohorts aligned well. Motor function as assessed by the Test for Infant Motor Performance Items (TIMPSI) and the Childrens Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) revealed significant differences between the SMA and control infants at baseline. Ulnar compound muscle action potential amplitude (CMAP) in SMA infants (1.4 ± 2.2 mV) was significantly reduced compared to controls (5.5 ± 2.0 mV). Electrical impedance myography (EIM) high-frequency reactance slope (Ohms/MHz) was significantly higher in SMA infants than controls SMA infants had lower survival motor neuron (SMN) mRNA levels in blood than controls, and several serum protein analytes were altered between cohorts. INTERPRETATION: By the time infants were recruited and presented for the baseline visit, SMA infants had reduced motor function compared to controls. Ulnar CMAP, EIM, blood SMN mRNA levels, and serum protein analytes were able to distinguish between cohorts at the enrollment visit.

Published
2016

16. Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy models

Author

Kim, Jeong-Ki, Jha, Narendra N., Feng, Zhihua, Faleiro, Michelle R., Chiriboga, Claudia A., Wei-Lapierre, Lan, Dirksen, Robert T., Ko, Chien-Ping, and Monani, Umrao R.

Subjects
Spinal muscular atrophy, Skeletal muscle, Medical research, Drug approval, Neurons, Muscular atrophy, Paralysis, Animal genetic engineering, Diseases, Health care industry, The Jackson Laboratory, Spinraza (Medication)
Abstract

Paucity of the survival motor neuron (SMN) protein triggers the oft-fatal infantile-onset motor neuron disorder, spinal muscular atrophy (SMA). Augmenting the protein is one means of treating SMA and recently led to FDA approval of an intrathecally delivered SMN-enhancing oligonucleotide currently in use. Notwithstanding the advent of this and other therapies for SMA, it is unclear whether the paralysis associated with the disease derives solely from dysfunctional motor neurons that may be efficiently targeted by restricted delivery of SMN-enhancing agents to the nervous system, or stems from broader defects of the motor unit, arguing for systemic SMN repletion. We investigated the disease-contributing effects of low SMN in one relevant peripheral organ--skeletal muscle--by selectively depleting the protein in only this tissue. We found that muscle deprived of SMN was profoundly damaged. Although a disease phenotype was not immediately obvious, persistent low levels of the protein eventually resulted in muscle fiber defects, neuromuscular junction abnormalities, compromised motor performance, and premature death. Importantly, restoring SMN after the onset of muscle pathology reversed disease. Our results provide the most compelling evidence yet for a direct contributing role of muscle in SMA and argue that an optimal therapy for the disease must be designed to treat this aspect of the dysfunctional motor unit., Introduction Homozygous mutations in the survival of motor neuron 1 (SMN1) gene result in reduced levels of the SMN protein and trigger the infantile-onset neuromuscular disease, spinal muscular atrophy (SMA) [...]

Published
2020
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19. Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!

Author

Bartlett, Amy, Kolb, Stephen J., Kingsley, Allison, Swoboda, Kathryn J., Reyna, Sandra P., Sakonju, Ai, Darras, Basil T., Shell, Richard, Kuntz, Nancy, Castro, Diana, Iannaccone, Susan T., Parsons, Julie, Connolly, Anne M., Chiriboga, Claudia A., McDonald, Craig, Burnette, W. Bryan, Werner, Klaus, Thangarajh, Mathula, Shieh, Perry B., Finanger, Erika, Coffey, Christopher S., Yankey, Jon W., Cudkowicz, Merit E., McGovern, Michelle M., McNeil, D. Elizabeth, Arnold, W. David, and Kissel, John T.

Published
2018
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21. JEWELFISH: 24-month Safety, Pharmacodynamic and Exploratory Efficacy Data in Non-Treatment-Naïve Patients with Spinal Muscular Atrophy (SMA) Receiving Treatment with Risdiplam (P7-9.004)

Author

Chiriboga, Claudia, primary, Bruno, Claudio, additional, Duong, Tina, additional, Fischer, Dirk, additional, Kirschner, Janbernd, additional, Scoto, Mariacristina, additional, Mercuri, Eugenio, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Kletzl, Heidemarie, additional, Carruthers, Imogen, additional, Martin, Carmen, additional, Gidaro, Teresa, additional, and Muntoni, Francesco, additional

Published
2023
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25. Newborn Screening for Spinal Muscular Atrophy in New York State

Author

Lee, Bo Hoon, primary, Deng, Stella, additional, Chiriboga, Claudia A., additional, Kay, Denise M., additional, Irumudomon, Obehioya, additional, Laureta, Emma, additional, Delfiner, Leslie, additional, Treidler, Simona O., additional, Anziska, Yaacov, additional, Sakonju, Ai, additional, Kois, Chelsea, additional, Farooq, Osman, additional, Engelstad, Kristin, additional, Laurenzano, Alexandra, additional, Hogan, Katherine, additional, Caggana, Michele, additional, Saavedra-Matiz, Carlos A., additional, Stevens, Colleen F., additional, and Ciafaloni, Emma, additional

Published
2022
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26. Quantitative Evaluation of Lower Extremity Joint Contractures in Spinal Muscular Atrophy: Implications for Motor Function

Author

Salazar, Rachel, Montes, Jacqueline, Dunaway Young, Sally, McDermott, Michael P., Martens, William, Pasternak, Amy, Quigley, Janet, Mirek, Elizabeth, Glanzman, Allan M., Civitello, Matt, Gee, Richard, Duong, Tina, Mazzone, Elena S., Main, Marion, Mayhew, Anna, Ramsey, Danielle, Muni Lofra, Robert, Coratti, Giorgia, Fanelli, Lavinia, De Sanctis, Roberto, Forcina, Nicola, Chiriboga, Claudia, Darras, Basil T., Tennekoon, Gihan I., Scoto, Mariacristina, Day, John W., Finkel, Richard, Muntoni, Francesco, Mercuri, Eugenio, and De Vivo, Darryl C.

Published
2018
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27. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

Author

Mercuri, Eugenio, Darras, Basil T., Chiriboga, Claudia A., Day, John W., Campbell, Craig, Connolly, Anne M., Iannaccone, Susan T., Kirschner, Janbernd, Kuntz, Nancy L., Saito, Kayoko, Shieh, Perry B., Tulinius, Már, Mazzone, Elena S., Montes, Jacqueline, Bishop, Kathie M., Yang, Qingqing, Foster, Richard, Gheuens, Sarah, Bennett, Frank C., Farwell, Wildon, Schneider, Eugene, De Vivo, Darryl C., and Finkel, Richard S.

Published
2018
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29. Contributors

Author

Aaen, Gregory S., primary, Abend, Nicholas Scott, additional, Abou-Hamden, Amal, additional, Allen, Jeffrey C., additional, Amato, Anthony A., additional, Amlie-Lefond, Catherine, additional, Ashwal, Stephen, additional, Bailey, Russell C., additional, Bale, James F., additional, Banwell, Brenda, additional, Barañano, Kristin W., additional, Barkovich, A. James, additional, Barohn, Richard J., additional, Bartels, Ute K., additional, Bartnik-Olson, Brenda, additional, Barzilai, Ori, additional, Bassuk, Alexander, additional, Bearden, David R., additional, Ben-Sira, Liat, additional, Bernard, Timothy J., additional, Berry-Kravis, Elizabeth, additional, Beslow, Lauren A., additional, Biegel, Jaclyn A., additional, Billinghurst, Lori, additional, Birnbaum, Angela K., additional, Blackburn, Joanna S., additional, Bobowski, Nuala, additional, Boire, Adrienne, additional, Bönnemann, Carsten G., additional, Bonifacio, Sonia L., additional, Bonthius, Daniel J., additional, Borcherding, Breck, additional, Branchford, Brian R., additional, Brandsema, John, additional, Brennan, Kathryn M., additional, Brenton, J. Nicholas, additional, Brooks-Kayal, Amy R., additional, Brown, Lawrence W., additional, Buchalter, Jeffrey, additional, Camfield, Carol S., additional, Camfield, Peter R., additional, Campoy, Cristina, additional, Carpenter, Jessica L., additional, Chang, Taeun, additional, Chau, Vann, additional, Chi, Susan N., additional, Chiriboga, Claudia A., additional, Cho, Yoon-Jae, additional, Christian, Cindy W., additional, Chrestian, Nicholas, additional, Cilio, Maria Roberta, additional, Clark, Robin D., additional, Cohen, Bruce H., additional, Cohn, Ronald D., additional, Connolly, Anne M., additional, Constable, Todd, additional, Constantini, Shlomi, additional, Conway, Jeannine M., additional, Coulter, David L., additional, Cowan, Tina M., additional, Dale, Russell C., additional, Darbro, Benjamin, additional, Darras, Basil T., additional, Dastgir, Jahannaz, additional, De Meirleir, Linda, additional, De Vivo, Darryl C., additional, de Vries, Linda S., additional, Deisch, Jeremy K., additional, Deltenre, Paul, additional, Desai, Jay, additional, Descartes, Maria, additional, deVeber, Gabrielle, additional, Dhamne, Sameer C., additional, Diaz, Jullianne, additional, DiMauro, Salvatore, additional, Dobyns, William B., additional, Doherty, Dan, additional, Donner, Elizabeth J., additional, Dosenbach, Nico U.F., additional, Dowling, James J., additional, Drake, James M., additional, Ejerskov, Cecile, additional, Engel, Andrew G., additional, Enns, Gregory M., additional, Escolano-Margarit, María Victoria, additional, Etzion, Iris, additional, Fatemi, S. Ali, additional, Fehlings, Darcy L., additional, Feinberg, Michelle Lauren, additional, Ferriero, Donna M., additional, Filipek, Pauline A., additional, Finkel, Richard S., additional, Fisher, Paul G., additional, Flanigan, Kevin, additional, Foreman, Nicholas K., additional, Franco, Israel, additional, Frank, Yitzchak, additional, Fredrick, Douglas R., additional, Freeze, Hudson H., additional, Fuente-Mora, Cristina, additional, Furman, Joseph M., additional, Gallagher, Renata C., additional, Garel, Catherine, additional, Gertsch, Emily, additional, Gilbert, Donald L., additional, Gilles, Elizabeth E., additional, Giza, Christopher C., additional, Glaser, Carol A., additional, Glass, Hannah C., additional, Glauser, Tracy, additional, Glykys, Joseph, additional, Goldstein, Amy, additional, Gonorazky, Hernan Dario, additional, Gonzalez, Rodolfo, additional, Goodkin, Howard P., additional, Graham, John M., additional, Greninger, Alexander L., additional, Gronseth, Gary, additional, Gropman, Andrea L., additional, Grundy, Richard, additional, Guerrini, Renzo, additional, Gupta, Nalin, additional, Hahn, Jin S., additional, Hamblin, Milton H., additional, Hani, Abeer J., additional, Hanmantgad, Sharyu, additional, Harbert, Mary J., additional, Harini, Chellamani, additional, Harriott, Andrea M., additional, Heatwole, Chad, additional, Hershey, Andrew D., additional, Hirtz, Deborah G., additional, Holmes, Gregory L., additional, Holshouser, Barbara A., additional, Hurwitz, Kathleen A., additional, Hwang, Eugene, additional, Ichord, Rebecca N., additional, Jafar-Nejad, Paymaan, additional, Jain, Sejal V., additional, Jordan, Lori, additional, Kabbouche, Marielle A., additional, Kacperski, Joanne, additional, Kang, Peter B., additional, Kariannis, Matthias A., additional, Kaufmann, Horacio, additional, Kaye, Harper L., additional, Keating, Robert, additional, Kennedy, Colin R., additional, Khakoo, Yasmin, additional, Kirton, Adam, additional, Kissel, John T., additional, Knupp, Kelly G., additional, Korf, Bruce R., additional, Kossoff, Eric H., additional, Kothare, Sanjeev V., additional, Kupfer, Oren, additional, LaFrance, W. Curt, additional, Latal, Beatrice, additional, Leber, Steven M., additional, Lee, Jean-Pyo, additional, Leppik, Ilo E., additional, Lerman-Sagie, Tally, additional, Lerner, Jason T., additional, Leventer, Richard J., additional, Licht, Daniel J., additional, Lichter-Konecki, Uta, additional, Lidar, Zvi, additional, Liem, Djin Gie, additional, Loddenkemper, Tobias, additional, Long, Roger K., additional, Luc, Quyen N., additional, Mackay, Mark, additional, Majnemer, Annette, additional, Makhani, Naila, additional, Malinger, Gustavo, additional, Mandelbaum, David E., additional, Maricich, Stephen M., additional, Maski, Kiran P., additional, Mathur, Mudit, additional, Matthews, Dennis J., additional, McMahon, Kelly, additional, DeMara-Hoth, Megan B., additional, Mendelsohn, Bryce, additional, Mennella, Julie A., additional, Ment, Laura R., additional, Mercuri, Eugenio, additional, Michelson, David J., additional, Mikati, Mohamad A., additional, Mikhail, Fady M., additional, Miller, Steven Paul, additional, Milunsky, Jeff M., additional, Mink, Jonathan W., additional, Mirzaa, Ghayda M., additional, Mitchell, Wendy G., additional, Mohan, Michael A., additional, Mohassel, Payam, additional, Moharir, Mahendranath, additional, Monani, Umrao R., additional, Monje Deisseroth, Michelle, additional, Moodley, Manikum, additional, Mower, Andrew, additional, Moxley, Richard T., additional, Mueller, Sabine, additional, Muotri, Alysson R., additional, Nagamani, Sandesh C.S., additional, Narayanan, Mohan J., additional, Narayanan, Vinodh, additional, Nass, Ruth D., additional, Neul, Jeffrey L., additional, Nevo, Yoram, additional, Ng, Bobby G., additional, Nickels, Katherine C., additional, Nimmo, Graeme A.M., additional, Noetzel, Michael J., additional, Norcliffe-Kaufmann, Lucy, additional, Nordli, Douglas R., additional, Nowak-Göttl, Ulrike, additional, O'Brien, Hope L., additional, Oleszek, Joyce, additional, Oskoui, Maryam, additional, Paciorkowski, Alex R., additional, Packer, Roger J., additional, Packman, Seymour, additional, Palma, Jose-Alberto, additional, Pardo, Andrea C., additional, Parsons, Julie A., additional, Partridge, John Colin, additional, Pastores, Gregory M., additional, Patterson, Marc C., additional, Pearce, William J., additional, Pearl, Phillip L., additional, Penner, Melanie, additional, Percival, Leila, additional, Pereira, Marcia, additional, Pfister, Stefan M., additional, Phillips, John, additional, Plecko, Barbara, additional, Plioplys, Sigita, additional, Poduri, Annapurna, additional, Poisson, Sharon, additional, Pomeroy, Scott L., additional, Poretti, Andrea, additional, Powers, Scott W., additional, Pranzatelli, Michael R., additional, Przekop, Allison, additional, Rabie, Malcolm, additional, Rangasamy, Sampathkumar, additional, Raymond, Gerald V., additional, Reddy, Alyssa T., additional, Rendleman, Rebecca L., additional, Rho, Jong M., additional, Rodan, Lance H., additional, Roddy, Sarah M., additional, Rogers, Elizabeth E., additional, Rosenthal, Stephen M., additional, Rosman, N. Paul, additional, Ross, M. Elizabeth, additional, Rotenberg, Alexander, additional, Rust, Robert S., additional, Sanchez, Cheryl P., additional, Sanchez, Pedro, additional, Sánchez Fernández, Iván, additional, Sands, Tristan T., additional, Sanger, Terence D., additional, Sannagowdara, Kumar, additional, Scheinost, Dustin, additional, Scher, Mark S., additional, Schor, Nina F., additional, Schrauwen, Isabelle, additional, Segal, Michael M., additional, Seinfeld, Syndi, additional, Selcen, Duygu, additional, Seltzer, Laurie E., additional, Semrud-Clikeman, Margaret, additional, Shaw, Dennis W., additional, Shaywitz, Bennett A., additional, Shaywitz, Sally E., additional, Shellhaas, Renée A., additional, Sherr, Elliott H., additional, Sheth, Rita D., additional, Shevell, Michael I., additional, Shinnar, Shlomo, additional, Shofty, Ben, additional, Shu, Stanford K., additional, Shy, Michael E., additional, Silveira Moriyama, Laura, additional, Silvestri, Nicholas J., additional, Sims, Katherine B., additional, Singer, Harvey S., additional, Singhal, Nilika Shah, additional, Smith, Craig M., additional, Smith, Edward, additional, Smith, Stephen A., additional, Snyder, Evan Y., additional, Soul, Janet, additional, Spalink, Christy L., additional, Spencer, Karen A., additional, Stafstrom, Carl E., additional, Steinfeld, Robert, additional, Strober, Jonathan B., additional, Sullivan, Joseph, additional, Swaiman, Kenneth F., additional, Swoboda, Kathryn J., additional, Tate, Elizabeth D., additional, Tatum, William O., additional, Tein, Ingrid, additional, Tekulve, Kristyn, additional, Tenney, Jeffrey R., additional, Thiele, Elizabeth A., additional, Thompson-Stone, Robert, additional, Tochen, Laura, additional, Tormoehlen, Laura M., additional, Tran, Lily, additional, Trauner, Doris A., additional, Turnacioglu, Sinan O., additional, Ullrich, Nicole J., additional, Urion, David K., additional, Van Camp, Guy, additional, Van Hirtum-Das, Michèle, additional, van Karnebeek, Clara D.M., additional, Van Maldergem, Lionel, additional, Vanderver, Adeline, additional, Vitanza, Nicholas A., additional, von Rhein, Michael, additional, von Scheven, Emily, additional, Wagner, Ann, additional, Wainwright, Mark S., additional, Walker, Melissa A., additional, Walkup, John T., additional, Walsh, Laurence, additional, Walters-Sen, Lauren C., additional, Wang, Raymond Y., additional, Warner, Thomas T., additional, Whelan, Harry T., additional, Weinberg, Geoffrey A., additional, Wells, Elizabeth M., additional, Wheless, James W., additional, Wirrell, Elaine C., additional, Wisoff, Jeffrey H., additional, Wolf, Nicole I., additional, Wolfe, Gil I., additional, Wright, F. Virginia, additional, Wycliffe, Nathaniel D., additional, Yang, Michele L., additional, Yuskaitis, Christopher J., additional, Zoghbi, Huda Y., additional, and Zupanc, Mary L., additional

Published
2017
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30. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

Author

Finkel, Richard S., Mercuri, Eugenio, Darras, Basil T., Connolly, Anne M., Kuntz, Nancy L., Kirschner, Janbernd, Chiriboga, Claudia A., Saito, Kayoko, Servais, Laurent, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Már, Montes, Jacqueline, Glanzman, Allan M., Bishop, Kathie, Zhong, Z. John, Gheuens, Sarah, Bennett, C. Frank, Schneider, Eugene, Farwell, Wildon, and De Vivo, Darryl C.

Published
2017
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31. Onasemnogene Abeparvovec for Presymptomatic Infants with Spinal Muscular Atrophy and Two Copies of SMN2 (S39.004)

Author

Strauss, Kevin, primary, Muntoni, Francesco, additional, Farrar, Michelle, additional, Saito, Kayoko, additional, Mendell, Jerry, additional, Servais, Laurent, additional, McMillan, Hugh, additional, Finkel, Richard, additional, Swoboda, Kathryn, additional, Kwon, Jennifer, additional, Zaidman, Craig, additional, Chiriboga, Claudia, additional, Iannaccone, Susan, additional, Krueger, Jena, additional, Parsons, Julie, additional, Shieh, Perry, additional, Kavanagh, Sarah, additional, Chand, Deepa, additional, Tauscher-Wisniewski, Sitra, additional, McGill, Bryan, additional, and Macek, Thomas, additional

Published
2022
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32. Onasemnogene Abeparvovec in Presymptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update in Children with Three Copies of SMN2 (P15-5.001)

Author

Strauss, Kevin, primary, Muntoni, Francesco, additional, Farrar, Michelle, additional, Saito, Kayoko, additional, Mendell, Jerry, additional, Servais, Laurent, additional, McMillan, Hugh, additional, Finkel, Richard, additional, Swoboda, Kathryn, additional, Kwon, Jennifer, additional, Zaidman, Craig, additional, Chiriboga, Claudia, additional, Iannaccone, Susan, additional, Krueger, Jena, additional, Parsons, Julie, additional, Shieh, Perry, additional, Kavanagh, Sarah, additional, Chand, Deepa, additional, Tauscher-Wisniewski, Sitra, additional, McGill, Bryan, additional, and Macek, Thomas, additional

Published
2022
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33. JEWELFISH: Safety, Pharmacodynamic and Exploratory Efficacy Data in Non-Naïve Patients with Spinal Muscular Atrophy (SMA) Receiving Treatment with Risdiplam (P15-5.004)

Author

Chiriboga, Claudia A., primary, Bruno, Claudio, additional, Duong, Tina, additional, Fischer, Dirk, additional, Kirschner, Janbernd, additional, Mercuri, Eugenio, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Kletzl, Heidemarie, additional, Carruthers, Imogen, additional, Martin, Carmen, additional, Warren, Francis, additional, and Scoto, Mariacristina, additional

Published
2022
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34. Pooled Safety Data from the Risdiplam Clinical Trial Development Program (P18-5.001)

Author

Darras, Basil T., primary, Chiriboga, Claudia A., additional, Servais, Laurent, additional, Baranello, Giovanni, additional, Bertini, Enrico, additional, Day, John W., additional, Deconinck, Nicolas, additional, Fischer, Dirk, additional, Goemans, Nathalie, additional, Kirschner, Janbernd, additional, Klein, Andrea, additional, Masson, Riccardo, additional, Mazurkiewicz-Bełdzińska, Maria, additional, Wang, Yi, additional, Bader-Weder, Silvia, additional, Gorni, Ksenija, additional, Jaber, Birgit, additional, McIver, Tammy, additional, Scalco, Renata, additional, and Mercuri, Eugenio, additional

Published
2022
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35. Bulbar function in spinal muscular atrophy (SMA): State of art and new challenges. 21st July 2023, Rome, Italy

Author

Fanelli, Lavinia, Coratti, Giorgia, Sansone, Valeria, Albamonte, Emilio, Trucco, Federica, Latini, Sofia, Bertini, Enrico, d'Amico, Adele, Doglio, Luca, Stimpson, Georgia, Baranello, Giovanni, Scoto, Mariacristina, Rohwer, Annemarie, Edel, Lisa, Lofra, Robert Muni, Bettolo, Chiara Marini, Young, Sally Dunaway, Day, John, Duong, Tina, Darras, Basil, Pasternak, Amy, Montes, Jacqueline, Rodriguez-Torres, Ralph, Chiriboga, Claudia A., Hirano, Michio, Civitello, Matthew, Cunningham, Zarazuela Zolkipli, Brandsema, John, Mayer, Hank, Glanzmann, Allan, Karagiannis, Joannis, Baldinetti, Francesca, Khader, Leila, Costa, Patrizia, Lovato, Valeria, Rastelletti, Irene, McGrattan, Katlyn, Cerchiari, Antonella, Conway, Eleanor, Berti, Beatrice, Finkel, Richard, Muntoni, Francesco, and Mercuri, Eugenio

Published
2024
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36. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

Author

Mercuri, Eugenio, primary, Deconinck, Nicolas, additional, Mazzone, Elena S, additional, Nascimento, Andres, additional, Oskoui, Maryam, additional, Saito, Kayoko, additional, Vuillerot, Carole, additional, Baranello, Giovanni, additional, Boespflug-Tanguy, Odile, additional, Goemans, Nathalie, additional, Kirschner, Janbernd, additional, Kostera-Pruszczyk, Anna, additional, Servais, Laurent, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Khwaja, Omar, additional, Kletzl, Heidemarie, additional, Scalco, Renata S, additional, Staunton, Hannah, additional, Yeung, Wai Yin, additional, Martin, Carmen, additional, Fontoura, Paulo, additional, Day, John W, additional, Volpe, Joseph J., additional, Posner, John, additional, Kellner, Ulrich, additional, Quinlivan, Rosaline, additional, Daron, Aurore, additional, Delstanche, Stéphanie, additional, Bruninx, Romain, additional, Dal Farra, Fabian, additional, Schneider, Olivier, additional, Balikova, Irina, additional, Delbeke, Patricia, additional, Joniau, Inge, additional, Tahon, Valentine, additional, Wittevrongel, Sylvia, additional, De Vos, Elke, additional, Casteels, Ingele, additional, De Waele, Liesbeth, additional, Cassiman, Catherine, additional, Prové, Lies, additional, Kinoo, David, additional, Vancampenhout, Lisa, additional, Van Den Hauwe, Marleen, additional, Van Impe, Annelies, additional, Prufer de Queiroz Campos Araujo, Alexandra, additional, Chacon Pereira, Aline, additional, Nardes, Flávia, additional, Haefeli, Lorena, additional, Rossetto, Julia, additional, Ferreira Rebel, Marcos, additional, Almeida Pereira, Jaqueline, additional, Campbell, Craig, additional, Sharan, Sapna, additional, McDonald, Wendy, additional, Scholtes, Cheryl, additional, Mah, Jean, additional, Sframeli, Maria, additional, Chiu, Angela, additional, Hagel, Jane, additional, Beneish, Raquel, additional, Cariou-Palmer, Gaela, additional, Pham, Connie, additional, Toffoli, Daniela, additional, Arpin, Stephanie, additional, Turgeon Desilets, Sarah, additional, Wang, Yi, additional, Hu, Chaoping, additional, Huan, Jianfeng, additional, Qian, Chen, additional, Shen, Li, additional, Xiao, Ying, additional, Zhou, Zhenxuan, additional, Li, Hui, additional, Wang, Sujuan, additional, Xiong, Hui, additional, Chang, Xingzhi, additional, Dong, Hui, additional, Liu, Ying, additional, Sang, Tian, additional, Wei, Cuijie, additional, Wen, Jing, additional, Cao, Yiwen, additional, Ly, Xingyao, additional, Zhao, Jingjing, additional, Li, Wenzhu, additional, Qin, Lun, additional, Barisic, Nina, additional, Galiot Delic, Martina, additional, Ivkic, Petra Kristina, additional, Vukojevic, Nenad, additional, Kern, Ivana, additional, Najdanovic, Boris, additional, Skugor, Marin, additional, Gidaro, Teresa, additional, Seferian, Andreea, additional, De Lucia, Silvana, additional, Barreau, Emmanuel, additional, Mnafek, Nabila, additional, Momtchilova, Marta Milkova, additional, Peche, Helene, additional, Valherie, Carole, additional, Grange, Allison, additional, Lilien, Charlotte, additional, Milascevic, Darko, additional, Tachibana, Shotaro, additional, Ravelli, Claudia, additional, Cardas, Ruxandra, additional, Taytard, Jessica, additional, Aubertin, Guillaume, additional, Vanden Brande, Laure, additional, Davion, Jean-Baptiste, additional, Coopman, Stephanie, additional, Bouacha, Ikram, additional, Debruyne, Philippe, additional, Defoort, Sabine, additional, Derlyn, Gilles, additional, Leroy, Florian, additional, Danjoux, Loïc, additional, Guilbaud, Julie, additional, Desguerre, Isabelle, additional, Barnérias, Christine, additional, Semeraro, Michaela, additional, Bremond-Gignac, Dominique, additional, Bruere, Lenaic, additional, Rateaux, Maxence, additional, Deladrière, Élodie, additional, Germa, Virginie, additional, Pereon, Yann, additional, Mercie, Sandra, additional, Billaud, Fanny, additional, Le Goff, Lucie, additional, Letellier, Guy, additional, Portefaix, Aurélie, additional, De-Montferrand, Camille, additional, Le-Goff, Laure, additional, Fontaine, Stephanie, additional, Saidi, Manel, additional, Bouzid, Nabil, additional, Barriere, Aurélie, additional, Tinat, Marie, additional, Dreesbach, Michelle, additional, Lagréze, Wolf, additional, Michaelis, Bettina, additional, Molnar, Fanni, additional, Seger, Dorina, additional, Vogt, Sibylle, additional, Bertini, Enrico, additional, D'Amico, Adele, additional, Petroni, Sergio, additional, Bonetti, Anna Maria, additional, Carlesi, Adelina, additional, Mizzoni, Irene, additional, Bruno, Claudio, additional, Priolo, Enrico, additional, Rao, Giuseppe, additional, Morando, Simone, additional, Tacchetti, Paola, additional, Zuffi, Ambra, additional, Comi, Giacomo Pietro, additional, Brusa, Roberta, additional, Corti, Stefania, additional, Daniele, Velardo, additional, Govoni, Alessandra, additional, Magri, Francesca, additional, Minorini, Valeria, additional, Osnaghi, Silvia Gabriella, additional, Abbati, Francesca, additional, Fassini, Federica, additional, Foa, Michaela, additional, Lopopolo, Amaqlia, additional, Meneri, Megi, additional, Zoppas, Francesca, additional, Parente, Valeria, additional, Masson, Riccardo, additional, Bianchi Marzoli, Stefania, additional, Santarsiero, Diletta, additional, Garcia Sierra, Myriam, additional, Tremolada, Gemma, additional, Arnoldi, Maria Teresa, additional, Vigano, Marta, additional, Zanin, Riccardo, additional, Mercuri, Eugenio, additional, Antonaci, Laura, additional, de Sanctis, Roberto, additional, Pane, Marika, additional, Pera, Maria Carmela, additional, Amorelli, Giulia Maria, additional, Barresi, Costanza, additional, D'Amico, Gugliemo, additional, Orazi, Lorenzo, additional, Coratti, Giorgia, additional, Haginoya, Kazuhiro, additional, Kato, Atsuko, additional, Morishita, Yuko, additional, Kira, Ryutaro, additional, Akiyama, Kiyomu, additional, Goto, Miwako, additional, Mori, Yujiro, additional, Okamoto, Misato, additional, Tsutsui, Saki, additional, Takatsuji, Yuta, additional, Tanaka, Aya, additional, Komaki, Hirofumi, additional, Omori, Miina, additional, Suzuki, Ippei, additional, Takeuchi, Mizuki, additional, Todoroki, Daisuke, additional, Watanabe, Seji, additional, Matsubayashi, Tomoko, additional, Inakazu, Emi, additional, Nagura, Hiroe, additional, Suzuki, Akira, additional, Usui, Manami, additional, Ishikawa, Nobutsune, additional, Harada, Yousuke, additional, Fudeyasu, Kenishi, additional, Hirata, Kazuhiko, additional, Michiue, Kana, additional, Ueda, Kazuyuki, additional, Fujitani, Junko, additional, Arakawa, Reiko, additional, Takano, Kozue, additional, Yashiro, Shigeko, additional, Seki, Maiko, additional, Sano, Nozomi, additional, Fukuyama, Koji, additional, Matsumoto, Yuki, additional, Miyazaki, Hirofumi, additional, Shibata, Minoru, additional, Kobayashi, Kyoko, additional, Nakamura, Yukie, additional, Takeshima, Yasuhiro, additional, Kuma, Moe, additional, Fraczek, Anna, additional, Jedrzejowska, Maria, additional, Lusakowska, Anna, additional, Czeszyk-Piotrowicz, Agnieszka, additional, Hautz, Wojciech, additional, Rakusiewicz, Klaudia, additional, Burlewicz, Malgorzata, additional, Gierlak-Wojcicka, Zuzanna, additional, Kepa, Malwina, additional, Sikorski, Adam, additional, Sobieraj, Marcin, additional, Mazurkiewicz-Beldzinska, Maria, additional, Lemska, Anna, additional, Modrzejewska, Sandra, additional, Koberda, Mateusz, additional, Stodolska-Koberda, Urszula, additional, Waskowska, Agnieszka, additional, Kolendo, Jagoda, additional, Sobierajska-Rek, Agnieszka, additional, Steinborn, Barbara, additional, Dalz, Magdalena, additional, Grabowska, Julia, additional, Hajduk, Wojciech, additional, Janasiewicz-Karachitos, Justyna, additional, Klimas, Monika, additional, Stopa, Marcin, additional, Gajewska, Ewa, additional, Pusz, Beata, additional, Vlodavets, Dmitry, additional, Melnik, Evgenia, additional, Leppenen, Natalya, additional, Yupatova, Nataliya, additional, Monakhova, Anastasya, additional, Papina, Yulia, additional, Shidlovsckaia, Olga, additional, Milic Rasic, Vedrana, additional, Brankovic, Vesna, additional, Kosac, Ana, additional, Djokic, Olivera, additional, Jakšic, Vesna, additional, Pepic, Ana, additional, Martinovic, Jelena, additional, Munell Casadesus, Francina, additional, Tizzano, Eduardo, additional, Martín Begué, Nieves, additional, Wolley Dod, Charlotte, additional, Subira, Olaia, additional, Planas Pascual, Bernat, additional, Toro Tamargo, Esther, additional, Madruga Garrido, Marcos, additional, Medina Romero, José David, additional, Salinas, Marta Peña, additional, Nascimento Osorio, Andrés, additional, Díaz Cortés, Ana, additional, Jiménez Gañan, Enrique, additional, Suh, Simone Dowon, additional, Medina Cantillo, Julita, additional, Moya, Obdulia, additional, Padros, Nuria, additional, Urraca, Sandra Roca, additional, Valdivia, Hugo Gonzalez, additional, Pascual Pascual, Samuel, additional, de Manuel, Sofía, additional, Martin, Susana Noval, additional, Burnham, Paul, additional, Espinosa, Sandra, additional, Moreno, Mercedes Martinez, additional, Topaloglu, Haluk, additional, Oncel, Ibrahim, additional, Eroglu Ertugru, Nesibe, additional, Konuskan, Bahadir, additional, Eldem, Bora, additional, Kadayifçilar, Sibel, additional, Alemdaroglu, Ipek, additional, Karaduman, Aynur Ayse, additional, Yilmaz, Oznur Tunca, additional, Bilgin, Neslihan, additional, Sari, Seher, additional, Chiriboga, Claudia, additional, Lee, John J., additional, Rome-Martin, Donnielle, additional, Day, John W., additional, Beres, Shannon, additional, Duong, Tina, additional, Gee, Richard, additional, Dunaway Young, Sally, additional, Fuerst-Recktenwald, Sabine, additional, Marquet, Anne, additional, Muelhardt, Nicoletta, additional, and Trundell, Dylan, additional

Published
2022
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38. Psychometric properties of the PEDI-CAT for children and youth with spinal muscular atrophy

Author

Fragala-Pinkham, Maria, primary, Pasternak, Amy, additional, McDermott, Michael P., additional, Mirek, Elizabeth, additional, Glanzman, Allan M., additional, Montes, Jacqueline, additional, Dunaway Young, Sally, additional, Salazar, Rachel, additional, Quigley, Janet, additional, Riley, Susan O., additional, Chiriboga, Claudia A., additional, Finkel, Richard S., additional, Tennekoon, Gihan, additional, Martens, William B., additional, De Vivo, Darryl C., additional, and Darras, Basil T., additional

Published
2021
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40. Treatment of infantile-onset spinal muscular atrophy with nusinersen: final report of a phase 2, open-label, multicentre, dose-escalation study

Author

Finkel, Richard S, primary, Chiriboga, Claudia A, additional, Vajsar, Jiri, additional, Day, John W, additional, Montes, Jacqueline, additional, De Vivo, Darryl C, additional, Bishop, Kathie M, additional, Foster, Richard, additional, Liu, Yingying, additional, Ramirez-Schrempp, Daniela, additional, Schneider, Eugene, additional, Bennett, C Frank, additional, Wong, Janice, additional, and Farwell, Wildon, additional

Published
2021
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44. Onasemnogene Abeparvovec Gene Therapy in Presymptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update in Children with 3 Copies of SMN2 (4163)

Author

Strauss, Kevin, primary, Muntoni, Francesco, additional, Farrar, Michelle, additional, Saito, Kayoko, additional, Mendell, Jerry, additional, Servais, Laurent, additional, McMillan, Hugh, additional, Swoboda, Kathryn, additional, Kwon, Jennifer, additional, Zaidman, Craig, additional, Chiriboga, Claudia, additional, Iannaccone, Susan, additional, Krueger, Jena, additional, Parsons, Julie, additional, Shieh, Perry, additional, Kavanagh, Sarah, additional, Chand, Deepa, additional, Tauscher-Wisniewski, Sitra, additional, and Macek, Thomas, additional

Published
2021
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45. JEWELFISH: Safety and Pharmacodynamic Data in Non-Naïve Patients with Spinal Muscular Atrophy (SMA) Receiving Treatment with Risdiplam (2316)

Author

Chiriboga, Claudia A., primary, Bruno, Claudio, additional, Duong, Tina, additional, Fischer, Dirk, additional, Kirschner, Janbernd, additional, Mercuri, Eugenio, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Kletzl, Heidemarie, additional, McIver, Tammy, additional, Scalco, Renata S., additional, Warren, Francis, additional, and Scoto, Mariacristina, additional

Published
2021
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46. Pooled Safety Data from the Risdiplam Clinical Trial Development Program (4184)

Author

Servais, Laurent, primary, Baranello, Giovanni, additional, Bertini, Enrico, additional, Chiriboga, Claudia, additional, Darras, Basil T., additional, Day, John W., additional, Deconinck, Nicolas, additional, Fischer, Dirk, additional, Goemans, Nathalie, additional, Kirschner, Janbernd, additional, Klein, Andrea, additional, Masson, Riccardo, additional, Mazurkiewicz-Bełdzińska, Maria, additional, Wang, Yi, additional, Bader-Weder, Silvia, additional, Gorni, Ksenija, additional, Jaber, Birgit, additional, McIver, Tammy, additional, Scalco, Renata S., additional, and Mercuri, Eugenio, additional

Published
2021
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47. Onasemnogene Abeparvovec Gene Therapy in Presymptomatic Spinal Muscular Atrophy (SMA): SPR1NT Study Update in Children with 2 Copies of SMN2 (4190)

Author

Strauss, Kevin, primary, Muntoni, Francesco, additional, Farrar, Michelle, additional, Saito, Kayoko, additional, Mendell, Jerry, additional, Servais, Laurent, additional, McMillan, Hugh, additional, Swoboda, Kathryn, additional, Kwon, Jennifer, additional, Zaidman, Craig, additional, Chiriboga, Claudia, additional, Iannaccone, Susan, additional, Krueger, Jena, additional, Parsons, Julie, additional, Shieh, Perry, additional, Kavanagh, Sarah, additional, Chand, Deepa, additional, Tauscher-Wisniewski, Sitra, additional, and Macek, Tom, additional

Published
2021
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