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1. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial

Author

Seferian, A., De Lucia, S., Tachibana, S., Jollet, A., Mouffak, S., Pedemonte, M., Brolatti, N., Morando, S., Vanlander, A., De Vos, E., Tahon, V., Govoni, A., Magri, F., Comi, G., Foa, M., Parente, V., Buscemi, L., Dal Farra, F., Schneider, O., Jonas, A., Defeldre, A.C., Pagliano, E., Zanin, R., Arnoldi, M.T., Schembri, V., Del Sole, M., Mandelli, A., Pera, M.C., Antonaci, L., Coratti, G., de Sanctis, R., Pane, M., Scoto, M., Groves, K., Edel, L., Abel, F., Van Ruiten, H., Lofra, R.M., Thompson, E., Mercuri, Eugenio, Muntoni, Francesco, Baranello, Giovanni, Masson, Riccardo, Boespflug-Tanguy, Odile, Bruno, Claudio, Corti, Stefania, Daron, Aurore, Deconinck, Nicolas, Servais, Laurent, Straub, Volker, Ouyang, Haojun, Chand, Deepa, Tauscher-Wisniewski, Sitra, Mendonca, Nuno, and Lavrov, Arseniy

Published
2021
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2. Morphologic development of the first-trimester utero-placental vasculature is positively associated with embryonic and fetal growth:the Rotterdam Periconception Cohort

Author

De Vos, E. S., Mulders, A. G.M.G.J., Koning, A. H.J., Willemsen, S. P., Rousian, M., Van Rijn, B. B., Steegers, E. A.P., Steegers-Theunissen, R. P.M., De Vos, E. S., Mulders, A. G.M.G.J., Koning, A. H.J., Willemsen, S. P., Rousian, M., Van Rijn, B. B., Steegers, E. A.P., and Steegers-Theunissen, R. P.M.

Abstract

STUDY QUESTION: Is morphologic development of the first-trimester utero-placental vasculature associated with embryonic growth and development, fetal growth, and birth weight percentiles?SUMMARY ANSWER: Using the utero-placental vascular skeleton (uPVS) as a new imaging marker, this study reveals morphologic development of the first-trimester utero-placental vasculature is positively associated with embryonic growth and development, fetal growth, and birth weight percentiles. WHAT IS KNOWN ALREADY: First-trimester development of the utero-placental vasculature is associated with placental function, which subsequently impacts embryonic and fetal ability to reach their full growth potential. The attribution of morphologic variations in the utero-placental vascular development, including the vascular structure and branching density, on prenatal growth remains unknown. STUDY DESIGN, SIZE, DURATION: This study was conducted in the VIRTUAL Placental study, a subcohort of 214 ongoing pregnancies, embedded in the prospective observational Rotterdam Periconception Cohort (Predict study). Women were included before 10 weeks gestational age (GA) at a tertiary referral hospital in The Netherlands between January 2017 and March 2018. PARTICIPANTS/MATERIALS, SETTING, METHODS: We obtained three-dimensional power Doppler volumes of the gestational sac including the embryo and the placenta at 7, 9, and 11 weeks of gestation. Virtual Reality-based segmentation and a recently developed skeletonization algorithm were applied to the power Doppler volumes to generate the uPVS and to measure utero-placental vascular volume (uPVV). Absolute vascular morphology was quantified by assigning a morphologic characteristic to each voxel in the uPVS (i.e. end-, bifurcation-crossing-, or vessel point). Additionally, total vascular length (mm) was calculated. The ratios of the uPVS characteristics to

Published
2024

4. 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 Maria, Deconinck, N., Mazzone, Elena Stacy, Nascimento, A., Oskoui, M., Saito, K., Vuillerot, C., Baranello, Giovanni, Boespflug-Tanguy, O., Goemans, N., Kirschner, J., Kostera-Pruszczyk, A., Servais, L., Gerber, M., Gorni, K., Khwaja, O., Kletzl, H., Scalco, R. S., Staunton, H., Yeung, W. Y., Martin, Craig, Fontoura, P., Day, J. W., Volpe, J. J., Posner, J., Kellner, U., Quinlivan, R., Fuerst-Recktenwald, S., Marquet, A., Mulhardt, N., Trundell, D., Daron, A., Delstanche, S., Romain, B., Dal Farra, F., Schneider, O., Balikova, I., Delbeke, P., Joniau, I., Tahon, V., Wittevrongel, S., De Vos, E., Casteels, I., De Waele, L., Cassiman, C., Prove, L., Kinoo, D., Vancampenhout, L., Van Den Hauwe, M., Van Impe, A., Prufer de Queiroz Campos Araujo, A., Chacon Pereira, A., Nardes, F., Haefeli, L., Rossetto, J., Almeida Pereira, J., Ferreira Rebel, M., Campbell, C., Sharan, S., Mcdonald, W., Scholtes, C., Mah, J., Sframeli, M., Chiu, A., Hagel, J., Beneish, R., Pham, C., Toffoli, D., Arpin, S., Turgeon Desilets, S., Wang, Y., Hu, C., Huang, J., Qian, C., Shen, L., Xiao, Y., Zhou, Z., Li, H., Wang, S., Xiong, H., Chang, X., Dong, H., Liu, Y., Sang, T., Wei, C., Wen, J., Cao, Y., Lv, X., Zhao, J., Li, W., Qin, L., Barisic, N., Galiot Delic, M., Ivkic, P. K., Vukojevic, N., Kern, I., Najdanovic, B., Skugor, M., Gidaro, T., Seferian, A., De Lucia, Sara Sofia, Barreau, E., Mnafek, N., Momtchilova, M. M., Peche, H., Valherie, C., Grange, A., Lilien, C., Milascevic, D., Tachibana, S., Ravelli, C., Cardas, R., Vanden Brande, L., Davion, J. -B., Coopman, S., Bouacha, I., Debruyne, P., Defoort, S., Derlyn, G., Leroy, F., Danjoux, L., Guilbaud, J., Desguerre, I., Barnerias, C., Semeraro, M., Bremond-Gignac, D., Bruere, L., Rateaux, M., Deladriere, E., Germa, V., Pereon, Y., Magot, A., Mercie, S., Billaud, F., Le Goff, L., Letellier, G., Portefaix, A., Fontaine, S., De-Montferrand, C., Le-Goff, L., Saidi, M., Bouzid, N., Barriere, A., Tinat, M., Dreesbach, M., Lagreze, W., Michaelis, B., Molnar, F., Seger, D., Vogt, S., Bertini, Enrico Silvio, D'Amico, Adele, Petroni, S., Bonetti, A. M., Carlesi, A., Mizzoni, I., Bruno, C., Priolo, E., Rao, G., Morando, S., Tacchetti, P., Zuffi, A., Comi, G. P., Brusa, R., Corti, Serafino, Daniele, V., Govoni, A., Magri, F., Minorini, V., Osnaghi, S. G., Abbati, F., Fassini, F., Foa, M., Lopopolo, A., Meneri, M., Zoppas, F., Parente, V., Masson, R., Bianchi Marzoli, Stefania, Santarsiero, Rocco Domenico, Garcia Sierra, M., Tremolada, G., Arnoldi, M. T., Vigano, M., Zanin, Renata, Amorelli, Giulia Maria, Barresi, C., D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, Haginoya, K., Kato, A., Morishita, Y., Kira, R., Akiyama, K., Goto, M., Mori, Y., Okamoto, M., Tsutsui, S., Takatsuji, Y., Tanaka, A., Komaki, H., Suzuki, I., Takeuchi, M., Todoroki, D., Watanabe, S., Omori, M., Matsubayashi, T., Inakazu, E., Nagura, H., Suzuki, A., Osaka, H., Ohashi, M., Ishikawa, N., Harada, Y., Fudeyasu, K., Hirata, K., Michiue, K., Ueda, K., Yashiro, S., Seki, M., Sano, N., Uemura, A., Fukuyama, K., Matsumoto, Y., Miyazaki, H., Shibata, M., Kobayashi, K., Nakamura, Y., Takeshima, Y., Kuma, M., Fraczek, A., Jedrzejowska, M., Lusakowska, A., Czeszyk-Piotrowicz, A., Hautz, W., Rakusiewicz, K., Burlewicz, M., Gierlak-Wojcicka, Z., Kepa, M., Sikorski, A., Sobieraj, M., Mazurkiewicz-Beldzinska, M., Lemska, A., Modrzejewska, S., Koberda, M., Stodolska-Koberda, U., Waskowska, A., Kolendo, J., Sobierajska-Rek, A., Steinborn, B., Dalz, M., Grabowska, J., Hajduk, W., Janasiewicz-Karachitos, J., Klimas, M., Stopa, M., Gajewska, E., Pusz, B., Vlodavets, D., Melnik, E., Leppenen, N., Yupatova, N., Monakhova, A., Papina, Y., Shidlovsckaia, O., Milic Rasic, V., Brankovic, V., Kosac, A., Djokic, O., Jaksic, V., Pepic, A., Martinovic, J., Munell Casadesus, F., Tizzano, E., Martin Begue, N., Wolley Dod, C., Subira, O., Planas Pascual, B., Toro Tamargo, E., Madruga Garrido, M., Medina Romero, J. D., Salinas, M. P., Nascimento Osorio, A., Diaz Cortes, A., Jimenez Ganan, E., Suh, S. D., Medina Cantillo, J., Moya, O., Padros, N., Roca Urraca, S., Gonzalez Valdivia, H., Pascual Pascual, S., de Manuel, S., Noval Martin, S., Burnham, P., Espinosa Garcia, S., Martinez Moreno, M., Topaloglu, H., Oncel, I., Eroglu Ertugrul, N., Konuskan, B., Eldem, B., Kadayifcilar, S., Alemdaroglu, I., Ayse Karaduman, A., Tunca Yilmaz, O., Bilgin, N., Sari, S., Chiriboga, C., Kane, S., Lee, J., Rome-Martin, D., Beres, S., Duong, T., Gee, R., Dunaway Young, S., Mercuri E. (ORCID:0000-0002-9851-5365), Mazzone E. S., Baranello G., Martin C., De Lucia S., Bertini E., D'Amico A., Corti S., Bianchi Marzoli S., Santarsiero D., Zanin R., Amorelli G. M., D'Amico G., Orazi L., Coratti G. (ORCID:0000-0001-6666-5628), Mercuri, Eugenio Maria, Deconinck, N., Mazzone, Elena Stacy, Nascimento, A., Oskoui, M., Saito, K., Vuillerot, C., Baranello, Giovanni, Boespflug-Tanguy, O., Goemans, N., Kirschner, J., Kostera-Pruszczyk, A., Servais, L., Gerber, M., Gorni, K., Khwaja, O., Kletzl, H., Scalco, R. S., Staunton, H., Yeung, W. Y., Martin, Craig, Fontoura, P., Day, J. W., Volpe, J. J., Posner, J., Kellner, U., Quinlivan, R., Fuerst-Recktenwald, S., Marquet, A., Mulhardt, N., Trundell, D., Daron, A., Delstanche, S., Romain, B., Dal Farra, F., Schneider, O., Balikova, I., Delbeke, P., Joniau, I., Tahon, V., Wittevrongel, S., De Vos, E., Casteels, I., De Waele, L., Cassiman, C., Prove, L., Kinoo, D., Vancampenhout, L., Van Den Hauwe, M., Van Impe, A., Prufer de Queiroz Campos Araujo, A., Chacon Pereira, A., Nardes, F., Haefeli, L., Rossetto, J., Almeida Pereira, J., Ferreira Rebel, M., Campbell, C., Sharan, S., Mcdonald, W., Scholtes, C., Mah, J., Sframeli, M., Chiu, A., Hagel, J., Beneish, R., Pham, C., Toffoli, D., Arpin, S., Turgeon Desilets, S., Wang, Y., Hu, C., Huang, J., Qian, C., Shen, L., Xiao, Y., Zhou, Z., Li, H., Wang, S., Xiong, H., Chang, X., Dong, H., Liu, Y., Sang, T., Wei, C., Wen, J., Cao, Y., Lv, X., Zhao, J., Li, W., Qin, L., Barisic, N., Galiot Delic, M., Ivkic, P. K., Vukojevic, N., Kern, I., Najdanovic, B., Skugor, M., Gidaro, T., Seferian, A., De Lucia, Sara Sofia, Barreau, E., Mnafek, N., Momtchilova, M. M., Peche, H., Valherie, C., Grange, A., Lilien, C., Milascevic, D., Tachibana, S., Ravelli, C., Cardas, R., Vanden Brande, L., Davion, J. -B., Coopman, S., Bouacha, I., Debruyne, P., Defoort, S., Derlyn, G., Leroy, F., Danjoux, L., Guilbaud, J., Desguerre, I., Barnerias, C., Semeraro, M., Bremond-Gignac, D., Bruere, L., Rateaux, M., Deladriere, E., Germa, V., Pereon, Y., Magot, A., Mercie, S., Billaud, F., Le Goff, L., Letellier, G., Portefaix, A., Fontaine, S., De-Montferrand, C., Le-Goff, L., Saidi, M., Bouzid, N., Barriere, A., Tinat, M., Dreesbach, M., Lagreze, W., Michaelis, B., Molnar, F., Seger, D., Vogt, S., Bertini, Enrico Silvio, D'Amico, Adele, Petroni, S., Bonetti, A. M., Carlesi, A., Mizzoni, I., Bruno, C., Priolo, E., Rao, G., Morando, S., Tacchetti, P., Zuffi, A., Comi, G. P., Brusa, R., Corti, Serafino, Daniele, V., Govoni, A., Magri, F., Minorini, V., Osnaghi, S. G., Abbati, F., Fassini, F., Foa, M., Lopopolo, A., Meneri, M., Zoppas, F., Parente, V., Masson, R., Bianchi Marzoli, Stefania, Santarsiero, Rocco Domenico, Garcia Sierra, M., Tremolada, G., Arnoldi, M. T., Vigano, M., Zanin, Renata, Amorelli, Giulia Maria, Barresi, C., D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, Haginoya, K., Kato, A., Morishita, Y., Kira, R., Akiyama, K., Goto, M., Mori, Y., Okamoto, M., Tsutsui, S., Takatsuji, Y., Tanaka, A., Komaki, H., Suzuki, I., Takeuchi, M., Todoroki, D., Watanabe, S., Omori, M., Matsubayashi, T., Inakazu, E., Nagura, H., Suzuki, A., Osaka, H., Ohashi, M., Ishikawa, N., Harada, Y., Fudeyasu, K., Hirata, K., Michiue, K., Ueda, K., Yashiro, S., Seki, M., Sano, N., Uemura, A., Fukuyama, K., Matsumoto, Y., Miyazaki, H., Shibata, M., Kobayashi, K., Nakamura, Y., Takeshima, Y., Kuma, M., Fraczek, A., Jedrzejowska, M., Lusakowska, A., Czeszyk-Piotrowicz, A., Hautz, W., Rakusiewicz, K., Burlewicz, M., Gierlak-Wojcicka, Z., Kepa, M., Sikorski, A., Sobieraj, M., Mazurkiewicz-Beldzinska, M., Lemska, A., Modrzejewska, S., Koberda, M., Stodolska-Koberda, U., Waskowska, A., Kolendo, J., Sobierajska-Rek, A., Steinborn, B., Dalz, M., Grabowska, J., Hajduk, W., Janasiewicz-Karachitos, J., Klimas, M., Stopa, M., Gajewska, E., Pusz, B., Vlodavets, D., Melnik, E., Leppenen, N., Yupatova, N., Monakhova, A., Papina, Y., Shidlovsckaia, O., Milic Rasic, V., Brankovic, V., Kosac, A., Djokic, O., Jaksic, V., Pepic, A., Martinovic, J., Munell Casadesus, F., Tizzano, E., Martin Begue, N., Wolley Dod, C., Subira, O., Planas Pascual, B., Toro Tamargo, E., Madruga Garrido, M., Medina Romero, J. D., Salinas, M. P., Nascimento Osorio, A., Diaz Cortes, A., Jimenez Ganan, E., Suh, S. D., Medina Cantillo, J., Moya, O., Padros, N., Roca Urraca, S., Gonzalez Valdivia, H., Pascual Pascual, S., de Manuel, S., Noval Martin, S., Burnham, P., Espinosa Garcia, S., Martinez Moreno, M., Topaloglu, H., Oncel, I., Eroglu Ertugrul, N., Konuskan, B., Eldem, B., Kadayifcilar, S., Alemdaroglu, I., Ayse Karaduman, A., Tunca Yilmaz, O., Bilgin, N., Sari, S., Chiriboga, C., Kane, S., Lee, J., Rome-Martin, D., Beres, S., Duong, T., Gee, R., Dunaway Young, S., Mercuri E. (ORCID:0000-0002-9851-5365), Mazzone E. S., Baranello G., Martin C., De Lucia S., Bertini E., D'Amico A., Corti S., Bianchi Marzoli S., Santarsiero D., Zanin R., Amorelli G. M., D'Amico G., Orazi L., and Coratti G. (ORCID:0000-0001-6666-5628)

Abstract

Background: Risdiplam is an oral small molecule approved for the treatment of patients with spinal muscular atrophy, with approval for use in patients with type 2 and type 3 spinal muscular atrophy granted on the basis of unpublished data. The drug modifies pre-mRNA splicing of the SMN2 gene to increase production of functional SMN. We aimed to investigate the safety and efficacy of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy. Methods: In this phase 3, randomised, double-blind, placebo-controlled study, patients aged 2–25 years with confirmed 5q autosomal recessive type 2 or type 3 spinal muscular atrophy were recruited from 42 hospitals in 14 countries across Europe, North America, South America, and Asia. Participants were eligible if they were non-ambulant, could sit independently, and had a score of at least 2 in entry item A of the Revised Upper Limb Module. Patients were stratified by age and randomly assigned (2:1) to receive either daily oral risdiplam, at a dose of 5·00 mg (for individuals weighing ≥20 kg) or 0·25 mg/kg (for individuals weighing <20 kg), or daily oral placebo (matched to risdiplam in colour and taste). Randomisation was conducted by permutated block randomisation with a computerised system run by an external party. Patients, investigators, and all individuals in direct contact with patients were masked to treatment assignment. The primary endpoint was the change from baseline in the 32-item Motor Function Measure total score at month 12. All individuals who were randomly assigned to risdiplam or placebo, and who did not meet the prespecified missing item criteria for exclusion, were included in the primary efficacy analysis. Individuals who received at least one dose of risdiplam or placebo were included in the safety analysis. SUNFISH is registered with ClinicalTrials.gov, NCT02908685. Recruitment is closed; the study is ongoing. Findings: Between Oct 9, 2017, and Sept 4, 2018, 180 patients were rand

Published
2022

5. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial

Author

Mercuri, Eugenio, primary, Muntoni, Francesco, additional, Baranello, Giovanni, additional, Masson, Riccardo, additional, Boespflug-Tanguy, Odile, additional, Bruno, Claudio, additional, Corti, Stefania, additional, Daron, Aurore, additional, Deconinck, Nicolas, additional, Servais, Laurent, additional, Straub, Volker, additional, Ouyang, Haojun, additional, Chand, Deepa, additional, Tauscher-Wisniewski, Sitra, additional, Mendonca, Nuno, additional, Lavrov, Arseniy, additional, Seferian, A., additional, De Lucia, S., additional, Tachibana, S., additional, Jollet, A., additional, Mouffak, S., additional, Pedemonte, M., additional, Brolatti, N., additional, Morando, S., additional, Vanlander, A., additional, De Vos, E., additional, Tahon, V., additional, Govoni, A., additional, Magri, F., additional, Comi, G., additional, Foa, M., additional, Parente, V., additional, Buscemi, L., additional, Dal Farra, F., additional, Schneider, O., additional, Jonas, A., additional, Defeldre, A.C., additional, Pagliano, E., additional, Zanin, R., additional, Arnoldi, M.T., additional, Schembri, V., additional, Del Sole, M., additional, Mandelli, A., additional, Pera, M.C., additional, Antonaci, L., additional, Coratti, G., additional, de Sanctis, R., additional, Pane, M., additional, Scoto, M., additional, Groves, K., additional, Edel, L., additional, Abel, F., additional, Van Ruiten, H., additional, Lofra, R.M., additional, and Thompson, E., additional

Published
2021
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6. 'When We Do Evict Them, It’s a Last Resort': Eviction Prevention in Social and Affordable Housing

Author

Collins, D., de Vos, E., Evans, J., Severson Mason, M., Anderson-Baron, J, Cruickshank, V., and McDowell, K.

Subjects
eviction prevention, Canada, eviction, Edmonton, Alberta, vulnerability, homelessness, social and affordable housing, housing
Abstract

Evictions are a common contributing factor to homelessness and are experienced overwhelmingly by vulnerable populations, including low-income households, single parents and minority groups. At the same time, social and affordable housing providers serve increasingly vulnerable populations. Although all evictions are potentially problematic, those that occur in social and affordable housing can carry particularly severe consequences. Little research exists on evictions in social and affordable housing, and even less on eviction prevention practices in this sector. This project seeks to fill this research gap by exploring emerging eviction prevention practices in social and affordable housing in Edmonton, Alberta, Canada. Our findings show that evictions are a complicated process for both tenants and housing providers, and most commonly occur because of rent arrears. Housing providers try to prevent evictions, and towards this end, they have adopted four broad eviction prevention practices, centred on financial management, regular communication with tenants, provision of tenant supports, and community development. However, housing providers are often constrained in their ability to prevent evictions, in particular by human resource and financial limitations. These challenges lead to complex negotiations between housing providers’ social mandates to provide affordable housing to vulnerable households and their regulatory and operational environments.

Published
2021

7. First-trimester utero-placental (vascular) development and embryonic and fetal growth:The Rotterdam periconception cohort

Author

Reijnders, I. F., Mulders, A. G.M.G.J., Koster, M. P.H., Kropman, A. T.M., de Vos, E. S., Koning, A. H.J., Willemsen, S. P., Rousian, M., Steegers, E. A.P., Steegers-Theunissen, R. P.M., Reijnders, I. F., Mulders, A. G.M.G.J., Koster, M. P.H., Kropman, A. T.M., de Vos, E. S., Koning, A. H.J., Willemsen, S. P., Rousian, M., Steegers, E. A.P., and Steegers-Theunissen, R. P.M.

Published
2021

8. Whole-genome sequencing for TB source investigations: principles of ethical precision public health

Author

Van Rie, A., Viedma, D. G. de, Meehan, Conor J., Comas, Iñaki, Heupink, T. H., De Vos, E., Oñate, W. A. de, Mathys, Vanessa, Ceyssens, P. J., Groenen, G., González-Candelas, Fernando, Forier, A., Juengst, E., Van Rie, A., Viedma, D. G. de, Meehan, Conor J., Comas, Iñaki, Heupink, T. H., De Vos, E., Oñate, W. A. de, Mathys, Vanessa, Ceyssens, P. J., Groenen, G., González-Candelas, Fernando, Forier, A., and Juengst, E.

Abstract

[Background]: Whole-genome sequencing (WGS) of Mycobacterium tuberculosis allows rapid, accurate inferences about the sources, location and timing of transmission. However, in an era of heightened concern for personal privacy and science distrust, such inferences could result in unintended harm and undermine the public's trust., [Methods]: We held interdisciplinary stakeholder discussions and performed ethical analyses of real-world illustrative cases to identify principles that optimise benefit and mitigate harm of M. tuberculosis WGS‐driven TB source investigations., [Results]: The speed and precision with which real‐time WGS can be used to associate M. tuberculosis strains with sensitive information has raised important concerns. While detailed understanding of transmission events could mitigate harm to vulnerable patients and communities when otherwise unfairly blamed for TB outbreaks, the precision of WGS can also identify transmission events resulting in social blame, fear, discrimination, individual or location stigma, and the use of defaming language by the public, politicians and scientists. Public health programmes should balance the need to safeguard privacy with public health goals, transparency and individual rights, including the right to know who infects whom or where., [Conclusions]: Ethical challenges raised by real‐time WGS‐driven TB source investigation requires public health authorities to move beyond their current legal mandate and embrace transparency, privacy and community engagement.

Published
2021

9. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial

Author

Mercuri, Eugenio Maria, Muntoni, F., Baranello, Giovanni, Masson, R., Boespflug-Tanguy, O., Bruno, C., Corti, S., Daron, A., Deconinck, N., Servais, L., Straub, V., Ouyang, H., Chand, D., Tauscher-Wisniewski, S., Mendonca, N., Lavrov, A., Seferian, A., De Lucia, S., Tachibana, S., Jollet, A., Mouffak, S., Pedemonte, M., Brolatti, N., Morando, S., Vanlander, A., De Vos, E., Tahon, V., Govoni, A., Magri, F., Comi, G., Foa, M., Parente, V., Buscemi, L., Dal Farra, F., Schneider, O., Jonas, A., Defeldre, A. C., Pagliano, E., Zanin, R., Arnoldi, M. T., Schembri, V., Del Sole, M., Mandelli, A., Pera, Maria Carmela, Antonaci, Laura, Coratti, Giorgia, De Sanctis, Roberto, Pane, Marika, Scoto, M., Groves, K., Edel, L., Abel, F., Van Ruiten, H., Lofra, R. M., Thompson, E., Mercuri E. (ORCID:0000-0002-9851-5365), Baranello G., Pera M. C. (ORCID:0000-0001-6777-1721), Antonaci L., Coratti G. (ORCID:0000-0001-6666-5628), de Sanctis R., Pane M. (ORCID:0000-0002-4851-6124), Mercuri, Eugenio Maria, Muntoni, F., Baranello, Giovanni, Masson, R., Boespflug-Tanguy, O., Bruno, C., Corti, S., Daron, A., Deconinck, N., Servais, L., Straub, V., Ouyang, H., Chand, D., Tauscher-Wisniewski, S., Mendonca, N., Lavrov, A., Seferian, A., De Lucia, S., Tachibana, S., Jollet, A., Mouffak, S., Pedemonte, M., Brolatti, N., Morando, S., Vanlander, A., De Vos, E., Tahon, V., Govoni, A., Magri, F., Comi, G., Foa, M., Parente, V., Buscemi, L., Dal Farra, F., Schneider, O., Jonas, A., Defeldre, A. C., Pagliano, E., Zanin, R., Arnoldi, M. T., Schembri, V., Del Sole, M., Mandelli, A., Pera, Maria Carmela, Antonaci, Laura, Coratti, Giorgia, De Sanctis, Roberto, Pane, Marika, Scoto, M., Groves, K., Edel, L., Abel, F., Van Ruiten, H., Lofra, R. M., Thompson, E., Mercuri E. (ORCID:0000-0002-9851-5365), Baranello G., Pera M. C. (ORCID:0000-0001-6777-1721), Antonaci L., Coratti G. (ORCID:0000-0001-6666-5628), de Sanctis R., and Pane M. (ORCID:0000-0002-4851-6124)

Abstract

Background: Spinal muscular atrophy is a rare, autosomal recessive, neuromuscular disease caused by biallelic loss of the survival motor neuron 1 (SMN1) gene, resulting in motor neuron dysfunction. In this STR1VE-EU study, we aimed to evaluate the safety and efficacy of onasemnogene abeparvovec gene replacement therapy in infants with spinal muscular atrophy type 1, using broader eligibility criteria than those used in STR1VE-US. Methods: STR1VE-EU was a multicentre, single-arm, single-dose, open-label phase 3 trial done at nine sites (hospitals and universities) in Italy (n=4), the UK (n=2), Belgium (n=2), and France (n=1). We enrolled patients younger than 6 months (180 days) with spinal muscular atrophy type 1 and the common biallelic pathogenic SMN1 exon 7–8 deletion or point mutations, and one or two copies of SMN2. Patients received a one-time intravenous infusion of onasemnogene abeparvovec (1·1 × 1014 vector genomes [vg]/kg). The outpatient follow-up consisted of assessments once per week starting at day 7 post-infusion for 4 weeks and then once per month until the end of the study (at age 18 months or early termination). The primary outcome was independent sitting for at least 10 s, as defined by the WHO Multicentre Growth Reference Study, at any visit up to the 18 months of age study visit, measured in the intention-to-treat population. Efficacy was compared with the Pediatric Neuromuscular Clinical Research (PNCR) natural history cohort. This trial is registered with ClinicalTrials.gov, NCT03461289 (completed). Findings: From Aug 16, 2018, to Sept 11, 2020, 41 patients with spinal muscular atrophy were assessed for eligibility. The median age at onasemnogene abeparvovec dosing was 4·1 months (IQR 3·0–5·2). 32 (97%) of 33 patients completed the study and were included in the ITT population (one patient was excluded despite completing the study because of dosing at 181 days). 14 (44%, 97·5% CI 26–100) of 32 patients achieved the primary endpoint of function

Published
2021

10. Contributor contact details

Author

Kilcast, D., primary, Everitt, M.A., additional, De Vos, E., additional, Hyldig, G., additional, Rogers, L.L., additional, Beeren, C.J.M., additional, Findlay, C., additional, Van Biesen, A., additional, Petit, C., additional, Vanzeveren, E., additional, Swainson, M., additional, McWatt, L., additional, Langstaff, S.A., additional, Piggott, J.R., additional, Macleod, S., additional, Costell, E., additional, Carbonell, I., additional, Tárrega, A., additional, Bayarri, S., additional, Martinsdóttir, E., additional, Creed, P.G., additional, and Giboreau, A., additional

Published
2010
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12. Whole-genome sequencing for TB source investigations: principles of ethical precision public health

Author

Van Rie, A., primary, de Viedma, D. G., additional, Meehan, C., additional, Comas, I., additional, Heupink, T. H., additional, De Vos, E., additional, de Oñate, W. A., additional, Mathys, V., additional, Ceyssens, P-J., additional, Groenen, G., additional, González‐Candelas, F., additional, Forier, A., additional, and Juengst, E., additional

Published
2021
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15. CERTIFICATION REPORT The certification of the mass concentration of As, Cd, Co, Cu, Mn, Mo, Ni and Pb, and density in seawater: ERM®-CA403

Author

SANCHEZ ROMERO RAQUEL, DE VOS E., SNELL JAMES, EMTEBORG HAKAN, and HELD ANDREA

Abstract

Summary This report describes the production of ERM®-CA403, a seawater material certified for the density and the mass concentrations of As, Cd, Co, Cu, Mn, Mo, Ni, and Pb. The material was produced following ISO Guide 34:2009. The starting material was 1500 L of seawater collected at Southern Bight just inside of Belgian territorial waters. The sample was filtered, acidified and spiked before filling into 500 mL high density polyethylene (HDPE) bottles which were placed into an aluminised PET/M (metallized polyethylene terephthalate) sachets. The material was sterilised by gamma irradiation. Between unit-homogeneity was quantified and stability during dispatch and storage were assessed in accordance with ISO Guide 35:2006 . Due to the inherent homogeneity of filtered water samples, determination of minimum sample intake (within-unit heterogeneity) was not required. The material was characterised by an inter-comparison among laboratories of demonstrated competence and adhering to ISO/IEC 17025:2005. Technically invalid results were removed but no outlier was eliminated on statistical grounds only. Uncertainties of the certified values were calculated in compliance with the Guide to the Expression of Uncertainty in Measurement (GUM) and include uncertainties related to possible inhomogeneity, and instability and to characterisation. The material is intended for the quality control and assessment of method performance. As any reference material, it can also be used for control charts or validation studies. The certified reference material (CRM) is available in bottles containing 500 mL of seawater. The CRM was accepted as European Reference Material (ERM®) after peer evaluation by the partners of the European Reference Materials consortium., JRC.F.6-Reference Materials

Published
2017

23. Validation of the Oral Survey-B System for Electronic Data Capture in National Oral Health Surveys

Author

Carvalho, Joana Christina, Declerck, Dominique, De Vos, E., Kellens, Jean-Pierre, Van Nieuwenhuysen, Jean Pierre, Vanobbergen, Jacques, Bottenberg, Peter, Declerck, Marie-Claire, Carvalho, Joana Christina, Declerck, Dominique, De Vos, E., Kellens, Jean-Pierre, Van Nieuwenhuysen, Jean Pierre, Vanobbergen, Jacques, Bottenberg, Peter, and Declerck, Marie-Claire

Abstract

The aims of the present study were to incorporate and to validate the electronic capture of participant-related outcomes into the Oral Survey-B System, which was originally developed for the electronic capture of clinical data. The validation process compared the performances of electronic and handwritten data captures. The hypothesis of noninferiority would be established if participants performed electronic data capture of the questionnaire survey with an effectiveness of at least 95% of that of handwritten data capture. In this multicenter, randomized, one-period crossover study design, participants (n = 261) were allocated to start with either electronic or handwritten data capture. The incorporation of the electronic self-completed questionnaire into the Oral Survey-B System was successful. The validation of the electronic questionnaire was performed by participants aged from 18 to 75 years. The interrater reliability of participants performing electronic and handwritten data capture of nonclinical assessments per questionnaire and per entry showed a kappa value of 0.72 (95% CI: 0.53-0.94). The noninferiority of electronic data capture in relation to that of the handwritten data capture and transfer was shown (p < 0.0001; 95% CI: 1.47-2.99). In conclusion, the electronic capture of participant-related outcomes with the Oral Survey-B System, originally designed for capture of clinical data, was validated. The electronic data capture was accurate and limited the number of errors. The participants were able to perform electronic data capture effectively, supporting its implementation in further National Oral Health Surveys. With the consideration of participant preference and time savings, this could lead to the implementation of electronic data capture worldwide in National Oral Health Surveys., SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2016

25. Abstracts of papers Symposium “new therapeutic developments in human infectious diseases”

Author

Compernolle, Frans, Saleh, Ashty, Hoornaert, Georges, Damianos, N., Galons, H., Miocque, M., Ouero, A. M., Cntto, J., De Clercq, E., Schols, D., Baba, M., Pauwels, R., De Meyer, N., Pandey, H. K., Mishra, L., Haemers, A., Vanden Berghe, D., Vlietinck, A. J., De Vos, E., Esmans, Ei., Van Dongen, W. F., Lepoivre, J. A., Alderweireldt, F. C., Balzarini, J., Herdewiin, P., Van Aerschot, A., Hiremath, S. P., Hooper, M., Mruthyunjayasuamy, B. H. M., Tounson, S., Kamerling, J. P., Jakobs, A., Christiaens, L., Renson, M., Joos, P., Esmans, E. L., Dommisse, R. A., Liepoivre, J. A., Marchand-Brynaert, J., Nasri, I., Auzeil, N., Bonaly, R., Loppinet, V., Opperdoes, F. R., Hol, W. G. J., Opio, J. Osuku, Labidalle, S., Galone, H., Bram, G., Plaum, L., Robaux, H., Monal, J. L., Schellekens, H., Schwabe, Carl H., Snippe, H., Verheul, A. F. M., Kamerlina, J. P., Slaghek, T. M., Koeman, F. A. W., Vlieqenthart, J. F. G., Vanden Bossche, Hugo, Vansterkenburg, Eugene L. M., Coppens, Isabelle, Opperdoes, Fred R., Wilting, Jaap, Bos, Octaaf J. M., Fischer, Marcel J. E., Janssen, Lambert H. M., Schepers, G., Herdewi in, P., Van Der Taelen, D., Verberckmoes, F., Wanner, M. J., v. Maarschalkerwaart, D. A. H., Koomen, G. J., Wigerinck, P., Claes, P., De Clercg, E., and Zhang, M. Q.

Published
1989
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26. Certification of the mass concentration of arsenic, cadmium, chromium, copper, iron, manganese, mercury, lead, nickel and selenium in wastewater: ERM®-CA713

Author

DE VOS E., CHAROUD-GOT Jean, DE VOS Paul, OOSTRA Albert, BACQUART THOMAS, and HELD Andrea

Abstract

The report describes the production and certification of the certified reference material ERM-CA713 Wastewater. The material was produced to replace the existing materials BCR-713, BCR-714 and BCR-715 because of changes in the legislation, in particular the requirement for the monitoring of Hg as a priority substance. The material is certified for As, Cd, Cr, Cu, Fe, Hg, Mn, Ni, Pb and Se. and will serve as a quality control tool for the laboratories involved in the mandatory monitoring of the Priority Substances prescribed under the Water Framework Directive (WFD, 2000/60/EC)., JRC.D.2-Standards for Innovation and sustainable Development

Published
2013

27. The certification of the mass fractions of elements in mussel tissue: ERM®-CE278k

Author

SNELL James, DE VOS E., EMTEBORG Per, and SCHIMMEL Heinz

Abstract

This report describes the production of ERM®-CE278k, a mussel tissue material certified for the mass fractions of 13 elements. The material was produced following ISO Guide 34:2009. The starting material was wild mussels (mytulis edulis) harvested off the coast of the Netherlands. The mussels were collected in late spring, steam-cooked, shelled and frozen. About 150 kg of mussel flesh was freeze-dried, frozen in liquid nitrogen and milled before sieving to obtain a fine powder. Between unit-heterogeneity was quantified and stability during dispatch and storage was assessed in accordance with ISO Guide 35:2006. Within-unit heterogeneity was quantified to determine the minimum sample intake. The material was characterised by an intercomparison among laboratories of demonstrated competence and adhering to ISO/IEC 17025. Technically invalid results were removed but no outlier was eliminated on statistical grounds only. Uncertainties of the certified values were calculated in compliance with the Guide to the Expression of Uncertainty in Measurement (GUM) and include uncertainties related to possible heterogeneity and instability and to characterisation. The material is intended for quality control and assessment of method performance. As any reference material, it can also be used for control charts or validation studies. The CRM is available in glass vials containing 8 g of dry powder closed under a nitrogen atmosphere. The minimum amount of sample to be used is 200 mg., JRC.D.2-Standards for Innovation and sustainable Development

Published
2012

29. Handboek meetmethoden voor effectiviteit van activerend arbeidsmarktbeleid op persoonsniveau: een handvat voor beleidsmakers en onderzoekers voor het vaststellen van de (netto-)effectiviteit van activerend arbeidsmarktbeleid

Author

de Vos, E., Zwinkels, W., Heyma, A., van Klaveren, C., and SEO Economisch Onderzoek

Abstract

Op verzoek van het Ministerie van Sociale Zaken en Werkgelegenheid hebben SEO Economisch Onderzoek en TNO gezamenlijk een "evaluatieprotocol" uitgewerkt, dat methoden aanreikt om de netto-effectiviteit van het activerend arbeidsmarktbeleid beter te kunnen vaststellen. De eerste drie hoofdstukken van het evaluatieprotocol zijn van de hand van TNO, de overige van SEO. Nederland investeert vele miljoenen euro’s in de re-integratie en activering van werklozen, gedeeltelijk arbeidsongeschikten en niet-uitkeringsgerechtigden (NUG’ers). Daartoe richten instrumenten zich op de vraagkant (bijvoorbeeld door loonkostensubsidies), de aanbodkant (bijvoorbeeld door scholing) en op het efficiënt bijeenbrengen van vraag en aanbod (bijvoorbeeld door het beschikbaar stellen van arbeidsmarktinformatie voor werkzoekenden en werkgevers). Dit handboek biedt een handvat voor de evaluatie van activerend arbeidsmarktbeleid. Het geeft de state-of-the-art weer van methoden voor onderzoek naar de effectiviteit van investeringen in activerend arbeidsmarktbeleid. De nadruk ligt daarbij op het vaststellen van de netto-effectiviteit op micro-niveau, dat wil zeggen de mate waarin individuele cliënten aan het werk zijn gekomen dankzij de inzet van beleid. Gebruikers van deze handleiding zijn beleidsambtenaren (Rijksoverheid, gemeenten, UWV, RWI etc.) die evaluaties (laten) verrichten naar het activerend arbeidsmarktbeleid en beleidsonderzoekers. Het handboek kan hen behulpzaam zijn bij onder meer het vertalen van een beleidsvraag naar een onderzoeksvraag, het treffen van voorzieningen voor juiste dataverzameling; een eenduidige hantering van het begrippenkader en het bevorderen van transparantie van methoden en presentatie van resultaten. Om te beoordelen of de inzet van middelen effectief is geweest, dient gekeken te worden naar de beleidsdoelen. Investeringen in activerend arbeidsmarktbeleid kunnen bijvoorbeeld worden gedaan om de arbeidsparticipatie te bevorderen, vacatures te vervullen en werkloosheid te verminderen. De beleidsdoelen dienen daartoe geoperationaliseerd te worden in uitkomstmaten. Veranderingen in de uitkomstmaat vormen een basis voor de vaststelling van effectiviteit. Effecten van beleidsinterventies kunnen worden gemeten door de groep die te maken heeft met een beleidsinterventie (de proefgroep) te vergelijken met de groep die daar niet mee te maken heeft (de controlegroep). Wanneer beide groepen goed vergelijkbaar zijn, dan kunnen verschillen in de uitkomstmaat (bijvoorbeeld de werkloosheidsduur) tussen beide groepen volledig worden toegeschreven aan de werking van de beleidsinterventie. Dat verschil is de netto-effectiviteit of toegevoegde waarde van de interventie. In de praktijk zijn de proefgroep en controlegroep niet altijd goed vergelijkbaar. Ze kunnen verschillen in samenstelling en in de kans op een beleidsinterventie: er is dan sprake van een selectieve inzet van beleidsinstrumenten. Afhankelijk van de uitkomstmaat, het type beleidsinterventie en de beschikbare gegevens voor analyse, kan door middel van specifieke evaluatiemethoden worden gecorrigeerd voor samenstelling- en selectie-effecten. In het handboek wordt een overzicht gegeven van beschikbare evaluatiemethoden met een handreiking welke evaluatiemethode in welke situatie het beste kan worden ingezet. Vervolgens wordt een overzicht gegeven van de benodigde gegevens voor een effectiviteitsanalyse en hoe met deze gegevens het beste kan worden omgegaan. Ten slotte wordt ingegaan op de manier waarop gemeten netto-effecten dienen te worden gepresenteerd. Belangrijk is om te realiseren dat effecten van beleidsinterventies die zijn vastgesteld met behulp van een effectiviteitsanalyse op een afgebakende onderzoekspopulatie ook alleen geldig zijn voor die afgebakende onderzoekspopulatie. De hoofdstukken 1 tot en met 4 van het handboek zijn gericht op beleidsmakers die in de opzet en uitwerking van het activerend arbeidsmarktbeleid rekening willen houden met de manier waarop dit beleid kan worden geëvalueerd. De technische uitwerking van zo’n evaluatie vindt plaats in de hoofdstukken 5 tot en met 7 en is met name gericht op onderzoekers. Dit rapport is uitgebracht als SZW Werkdocument 405.

Published
2008

35. Daar moet ik alles mee doen : portretten van mensen met een minimum-uitkering

Author

Kullberg, J., Goossens, R., and de Vos, E.

Subjects
structuur, Household and Consumer Studies, income distribution, households, netherlands, financial management, consumptie, families, huishoudens, nederland, inkomensverdeling, vermogensverdeling, composition, persons, gezinnen, Huishoudstudies, laag inkomen, wealth distribution, consumption, structure, financieel beheer, personen, low income, samenstelling
Published
1990

38. Asymmetric action in the human newborn: Sex differences in patterns of organization.

Author

Grattan, M. P., de Vos, E., Levy, J., and McClintock, M. K.

Subjects
*CHILD development
Abstract

Develops a procedure and scale to quantify movement asymmetry in 36 full-term newborns from several normal newborn nurseries. Discussion of sex differences in terms of alternative mechanisms for the development of asymmetric action and the role of newborn reflexes in adult voluntary movement; The lack of asymmetry in the latency, threshold or habituation of the newborns' movement behaviors; Method; Results; Conclusion.

Published
1992
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40. Synthesis and Biological Evaluation of 2-(2-Deoxy-D-erythro-pent-1-enofuranosyl)pyridine C-Nucleosides

Author

De Vos, E., Esmans, E. L., Lepoivre, J. A., Alderweireldt, F. C., Dommisse, R. A., François, P., Touillaux, R., Balzarini, J., and De Clercq, E.

Abstract

2-(2-Deoxy-D-erythro-pent-1-enofuranosyl)pyridine and its methyl analogues have been prepared by treatment of the corresponding 2',3'-O-isopropylidene-D-ribofuranosyl derivatives with several bases such as sodium amide, tert.BuOK, EtONa, lithium tetramethylpiperidide (LTMP) and phenyl lithium (PhLi). PhLi and tert.BuOK gave the best results. The products thus obtained showed cytostatic activity against human tumor cell lines, in particular MT-4, a human T-lymphocyte cell line. No antiviral activity was noted at subtoxic concentrations.

Published
1991
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48. A Delphi approach to reach consensus on primary care guidelines regarding youth violence prevention.

Author

De Vos E, Spivak H, Hatmaker-Flanigan E, and Sege RD

Abstract

OBJECTIVE: Anticipatory guidance is a cornerstone of modern pediatric practice. In recognition of its importance for child well being, injury prevention counseling is a standard element of that guidance. Over the last 20 years, there has been growing recognition that intentional injury or violence is one of the leading causes of morbidity and mortality among youth. The US Surgeon General identified youth violence as a major public health issue and a top priority. Yet, only recently has the scope of injury prevention counseling been expanded to include violence. Pediatric health care providers agree that youth violence-prevention counseling should be provided, yet the number of topics available, the already lengthy list of other anticipatory guidance topics to be covered, developmental considerations, and the evidence base make the selection of an agreed-on set a considerable challenge. The purpose of this study was to systematically identify and prioritize specific counseling topics in violence prevention that could be integrated into anticipatory guidance best practice. DESIGN: A modified electronic Delphi process was used to gain consensus among 50 national multidisciplinary violence-prevention experts. Participants were unaware of other participants' identities. METHODS: The process consisted of 4 serial rounds of inquiry beginning with a broad open-ended format for the generation of anticipatory guidance and screening topics across 5 age groups (infant, toddler, school age, adolescent, and all ages). Each subsequent round narrowed the list of topics toward the development of a manageable set of essential topics for screening and counseling about positive youth development and violence prevention. RESULTS: Forty-seven unique topics were identified, spanning birth to age 21 years. Topics cover 4 broad categories (building blocks): physical safety, parent centered, child centered, and community connection. Participants placed topics into their developmentally appropriate visit-based schedule and made suggestions for an appropriate topic reinforcement schedule. The resulting schedule provides topics for introduction and reinforcement at each visit. CONCLUSIONS: The Delphi technique proved a useful approach for accessing expert opinion, for analyzing and synthesizing results, for achieving consensus, and for setting priorities among the numerous anticipatory guidance and assessment topics relevant for raising resilient, violence-free youth. [ABSTRACT FROM AUTHOR]

Published
2006
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49. Investigation of the Synthesis of 2-Carbamoylmethyl-6-D-Ribofuranosylpyridine

Author

De Vos, E., Esmans, E. L., Alderweireldt, F. C., and Lepoivre, J. A.

Abstract

During the course of our study on the synthesis of new pyridine-C-nucleosides with potential anti-viral and/or anti-tumourai properties, the preparation of 2-carbamoylmethyl-6-β-D-ribofuranosylpyridine 1, by means of a lithiation reaction on 2-(2,3-0-isopropylidene-β D-nbofuranosyl)-6-methylpyridine 2, was investigated (Scheme I). The latter compound was prepared by treating 6-methyl- toluenesulphonic acid. 2-(& D-ribofuranosyl)pyridine 1 2 with 2.2-dimethoxypropane in the presence of p-

Published
1989
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50. 652P Muscle MRI-phenotyping of patients with likely pathogenic anoctamin 5 variants.

Author

Poulsen, N., Palmio, J., Jokela, M., Claeys, K., Iterbeke, L., De Bleecker, J., De Vos, E., Domínguez-González, C., Bermejo-Guerrero, L., Muelas, N., Vilchez, J., Gonzalez-Chamorro, A., Diaz-Manera, J., Straub, V., Straathof, C., Niks, E., Voermans, N., Cameron, D., and Vissing, J.

Subjects
*LIMB-girdle muscular dystrophy, *MUSCULAR dystrophy, *CHLORIDE channels, *RESEARCH personnel, *PHENOTYPES
Abstract

The anoctamin 5 gene (ANO5) encodes the anoctamin 5 protein that acts as a calcium-sensitive chloride channel. Pathogenic ANO5 variants give rise to four main phenotypes: Limb-girdle muscular dystrophy type R12 (LGMDR12), Miyoshi distal muscular dystrophy type 3 (MMD3), Pseudometabolic myopathy, and Asymptomatic hyperCKemia. The clinical phenotypes have been investigated in an extensive European study, while the muscle MRI phenotypes have been studied in only a few smaller studies. Thus, this study examines the MRI phenotype in a large cohort of patients with Anoctaminopathies to describe patterns of muscle involvement, sex differences, the extent of asymmetry, and potential phenotype-genotype correlations. The study is a retrospective, cross-sectional study. We expect to include MRI scans and clinical data from around 200 patients with Anoctaminopathies from 16 centers in 10 countries. The MRI data are shared through MYO-SHARE – an online platform that enables researchers to share pseudonymized MRI scans and to score the intramuscular fat content with the Mercuri scale. T1-weighted MRIs of the lower back and lower limbs will be collected from all patients when available, as well as T1-weighted MRIs and Dixon images from any other body part. Clinical data are shared through REDCap and contain information on genotype, phenotype, muscle function, and cardiac affection. The collection of data is expected to end around Summer 2024. Data will be presented at the conference. [ABSTRACT FROM AUTHOR]

Published
2024
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