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1. Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy

Author

Bernert, G., Knipp, F., Buyse, G.M., Goemans, N., Van den Hauwe, M., Voit, T., Doppler, V., Gidaro, T., Cuisset, J.-M., Coopman, S., Schara, U., Lutz, S., Kirschner, J., Borell, S., Will, M., D'Angelo, M.G., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, L., D'Ambrosio, P., Taglia, A., Verschuuren, J.J.G.M., Straathof, C.S.M., Vílchez Padilla, J.J., Muelas Gómez, N., Sejersen, T., Hovmöller, M., Jeannet, P.-Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Finkel, R., Bönnemann, C., McDonald, C., Henricson, E., Joyce, N., Apkon, S., Richardson, R.C., Meier, Thomas, Rummey, Christian, Leinonen, Mika, Spagnolo, Paolo, Mayer, Oscar H., and Buyse, Gunnar M.

Published
2017
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2. Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

Author

Bernert, G., Knipp, F., Buyse, G.M., Goemans, N., van den Hauwe, M., Voit, T., Doppler, V., Gidaro, T., Cuisset, J.-M., Coopman, S., Schara, U., Lutz, S., Kirschner, J., Borell, S., Will, M., D'Angelo, M.G., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, L., D'Ambrosio, P., Taglia, A., Verschuuren, J.J.G.M., Straathof, C.S.M., Vílchez Padilla, J.J., Muelas Gómez, N., Sejersen, T., Hovmöller, M., Jeannet, P.-Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Finkel, R., Bönnemann, C., McDonald, C., Henricson, E., Joyce, N., Apkon, S., Richardson, R.C., McDonald, Craig M., Meier, Thomas, Voit, Thomas, Schara, Ulrike, Straathof, Chiara S.M., D'Angelo, M. Grazia, Bernert, Günther, Cuisset, Jean-Marie, Finkel, Richard S., Goemans, Nathalie, Rummey, Christian, Leinonen, Mika, Spagnolo, Paolo, and Buyse, Gunnar M.

Published
2016
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3. Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping

Author

Mercuri, Eugenio Maria, Seferian, A. M., Servais, L., Deconinck, N., Stevenson, H., Ni, X., Zhang, W., East, L., Yonren, S., Muntoni, F., Van Coster, R., Vanlander, A., Seferian, A., De Lucia, Sara Sofia, Gidaro, T., Brande, L. V., Kirschner, J., Borell, S., Brogna, Claudia, Pane, Marika, Fanelli, L., Norcia, G., Brusa, C., Chesshyre, M., Maresh, K., Pitchforth, J., Schottlaender, L., Scoto, M., Silwal, A., Trucco, F., Mercuri E. (ORCID:0000-0002-9851-5365), De Lucia S., Brogna C., Pane M. (ORCID:0000-0002-4851-6124), Mercuri, Eugenio Maria, Seferian, A. M., Servais, L., Deconinck, N., Stevenson, H., Ni, X., Zhang, W., East, L., Yonren, S., Muntoni, F., Van Coster, R., Vanlander, A., Seferian, A., De Lucia, Sara Sofia, Gidaro, T., Brande, L. V., Kirschner, J., Borell, S., Brogna, Claudia, Pane, Marika, Fanelli, L., Norcia, G., Brusa, C., Chesshyre, M., Maresh, K., Pitchforth, J., Schottlaender, L., Scoto, M., Silwal, A., Trucco, F., Mercuri E. (ORCID:0000-0002-9851-5365), De Lucia S., Brogna C., and Pane M. (ORCID:0000-0002-4851-6124)

Abstract

Eteplirsen is FDA-approved for the treatment of Duchenne muscular dystrophy (DMD) in exon 51 skip-amenable patients. Previous studies in boys > 4 years of age indicate eteplirsen is well tolerated and attenuates pulmonary and ambulatory decline compared with matched natural history cohorts. Here the safety, tolerability and pharmacokinetics of eteplirsen in boys aged 6–48 months is evaluated. In this open-label, multicenter, dose-escalation study (NCT03218995), boys with a confirmed mutation of the DMD gene amenable to exon 51 skipping (Cohort 1: aged 24–48 months, n = 9; Cohort 2: aged 6 to < 24 months, n = 6) received ascending doses (2, 4, 10, 20, 30 mg/kg) of once-weekly eteplirsen intravenously over 10 weeks, continuing at 30 mg/kg up to 96 weeks. Endpoints included safety (primary) and pharmacokinetics (secondary). All 15 participants completed the study. Eteplirsen was well tolerated with no treatment-related discontinuations, deaths or evidence of kidney toxicity. Most treatment-emergent adverse events were mild; most common were pyrexia, cough, nasopharyngitis, vomiting, and diarrhea. Eteplirsen pharmacokinetics were consistent between both cohorts and with previous clinical experience in boys with DMD > 4 years of age. These data support the safety and tolerability of eteplirsen at the approved 30-mg/kg dose in boys as young as 6 months old.

Published
2023

4. P.110 JEWELFISH: 24-month safety and pharmacodynamic data in non-treatment-naïve patients with spinal muscular atrophy (SMA)

Author

Chiriboga, C., primary, Bruno, C., additional, Duong, T., additional, Fischer, D., additional, Kirschner, J., additional, Scoto, M., additional, Mercuri, E., additional, Gerber, M., additional, Gorni, K., additional, Kletzl, H., additional, Carruthers, I., additional, Martin, C., additional, Gidaro, T., additional, and Muntoni, F., additional

Published
2022
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6. 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

7. Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients

Author

McDonald, Craig M, primary, Muntoni, Francesco, additional, Penematsa, Vinay, additional, Jiang, Joel, additional, Kristensen, Allan, additional, Bibbiani, Francesco, additional, Goodwin, Elizabeth, additional, Gordish-Dressman, Heather, additional, Morgenroth, Lauren, additional, Werner, Christian, additional, Li, James, additional, Able, Richard, additional, Trifillis, Panayiota, additional, Tulinius, Már, additional, Ryan, M, additional, Jones, K, additional, Goemans, N, additional, Campbell, C, additional, Mah, JK, additional, Selby, K, additional, Chabrol, B, additional, Pereon, Y, additional, Voit, T, additional, Gidaro, T, additional, Schara, U, additional, Kirschner, JB, additional, Nevo, Y, additional, Comi, GP, additional, Bertini, E, additional, Mercuri, E, additional, Colomer, J, additional, Nascimento, A, additional, Vilchez, JJ, additional, Tulinius, M, additional, Sejersen, T, additional, Muntoni, F, additional, Bushby, K, additional, and Guglieri, M, additional

Published
2022
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8. CLINICAL RESEARCH

Author

Lilien, C., primary, Reyngoudt, H., additional, Seferian, A., additional, Gidaro, T., additional, Annoussamy, M., additional, Chê, V., additional, Decostre, V., additional, Ledoux, I., additional, Louër, J. Le, additional, Guemas, E., additional, Muntoni, F., additional, Hogrel, J., additional, Carlier, P., additional, and Servais, L., additional

Published
2021
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9. 238P NMD670, a first-in-class skeletal muscle ClC-1 Inhibitor in myasthenia gravis: the SYNAPSE-MG dose-finding study.

Author

Gidaro, T., Grønnebæk, T.S., Cornwall, C., Gupte, J., Sampson, C., Kiyasova, V., Pedersen, T.H., and Quiroz, J.A.

Subjects
*PATIENTS, *NEUROMUSCULAR diseases, *MUSCLE weakness, *CHLORIDE channels, *NEUROMUSCULAR transmission, *MYASTHENIA gravis
Abstract

NMD670 is an inhibitor of skeletal muscle-specific chloride channel protein 1 (ClC-1) that enhances neuromuscular transmission and is being developed for the treatment of neuromuscular diseases, including myasthenia gravis (MG), in which neuromuscular junction (NMJ) transmission is impaired. Despite available treatments, MG patients struggle with symptoms of prominent muscle weakness and fatigue. In a recent phase 1 proof-of-mechanism study of NMD670 in 12 MG patients with mild symptoms, a single dose of NMD670 led to significant and clinically meaningful improvements as assessed with the Quantitative MG (QMG) score. Furthermore, NMD670 was shown to be safe and well tolerated thus supporting further clinical development in MG (Sci Transl Med. 2024). Therefore, a dose-finding study in adult patients with MG who have antibodies against Muscle Specific Kinase (MuSK) or the Acetylcholine Receptor (AchR) is planned to start in 2024. The aim of this study is to evaluate the efficacy and safety of 3 dose levels of NMD670, administered twice a day for 21 days vs. placebo. Male and female patients, aged 18-75 years, diagnosed with MG and with a Myasthenia Gravis Foundation of America (MGFA) class II-IV, a QMG score of 11 or more and an MG-Activities of Daily-Living score of 6 or more at screening are planned to be enrolled at 40 sites across Europe and North America. Endpoints of this study include changes in the QMG total score MG-ADL, MG Composite (MGC), MG Quality of Life 15 revised (QOL15r), and Neuro Qol Fatigue Short Form total scores. A more detailed study design, target population, and other key updates will be provided by NMD Pharma A/S at the 29th Annual Congress of the World Muscle Society in October 2024. [ABSTRACT FROM AUTHOR]

Published
2024
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10. 103P NMD670, a first-in-class skeletal muscle ClC-1 Inhibitor in Charcot-Marie-Tooth disease: the SYNAPSE-CMT phase 2 study.

Author

Gidaro, T., Grønnebæk, T.S., Cornwall, C., Gupte, J., Sampson, C., Kiyasova, V., Pedersen, T.H., and Quiroz, J.A.

Subjects
*NEUROMUSCULAR diseases, *NEUROMUSCULAR transmission, *CHARCOT-Marie-Tooth disease, *MUSCLE weakness, *CHLORIDE channels
Abstract

NMD670, developed by NMD Pharma, is a first-in-class neuromuscular transmission enhancer targeting the skeletal muscle chloride channel 1 (ClC-1). It is designed to address neuromuscular disorders characterized by impaired neuromuscular transmission. Partial ClC-1 inhibition by NMD670 has recently been shown to improve NMJ transmission in preclinical models of myasthenia gravis and Charcot-Marie-Tooth and symptoms in patients with myasthenia gravis. Charcot-Marie-Tooth (CMT) is an inherited peripheral neuropathy leading to muscle weakness and fatigue, with no approved treatments and significant unmet medical needs. Emerging data from recent studies, including an observational study (NCT04980807) by NMD Pharma, suggest that NMJ transmission contributes to symptoms of weakness and fatigue in CMT. Correlations were observed between jitter, blocking, and impaired strength, mobility, balance, and endurance in CMT patients. Consequently, NMD670 emerges as a promising candidate for CMT treatment, prompting the initiation of the SYNAPSE-CMT study. SYNAPSE-CMT is a phase 2 study aiming to assess the efficacy, safety, and tolerability of NMD670 in ambulatory adults with CMT. Approximately 80 participants diagnosed with CMT type 1 and 2 will be randomized across 19 sites in North America and Europe. Participants will receive NMD670 or placebo twice daily for 21 days. Endpoints include the 6-minute walk test, the 10-meter walk/run test, the timed up-and-go test, and the CMT-FOM composite assessments comparing the effects of NMD670 to placebo. Enrollment of the first subject is planned for 2024. Detailed study design, target population, and updates will be provided by NMD Pharma at the 29th Annual Congress of the World Muscle Society in October 2024. [ABSTRACT FROM AUTHOR]

Published
2024
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11. DMD – BIOMARKERS & OUTCOME MEASURES

Author

Hogrel, J., primary, Decostre, V., additional, Ledoux, I., additional, de Antonio, M., additional, Niks, E., additional, de Groot, I., additional, Straub, V., additional, Muntoni, F., additional, Ricotti, V., additional, Voit, T., additional, Seferian, A., additional, Gidaro, T., additional, and Servais, L., additional

Published
2020
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12. Clinical changes over time in patients with centronuclear myopathy due to mutations in DNM2 gene enrolled in a European prospective natural history study

Author

Annoussamy, M, Baets, J, Ridder, W De, Duchêne, D, Grangé, A, Lilien, C, Chê, V, Gidaro, T, Seferian, A, Behin, A, Voermans, N, Bitoun, Marc, Hogrel, J, Freitag, C, Paradis, K, Thielemans, L, Rooijen, S Van, Servais, L, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en Myologie – U974 SU-INSERM, and Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)

Subjects
[SDV]Life Sciences [q-bio]
Published
2019

13. Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy

Author

Hogrel, J.Y., Decostre, V., Ledoux, I., Antonio, M., Niks, E.H., Groot, I.J.M. de, Straub, V., Muntoni, F., Ricotti, V., Voit, T., Seferian, A., Gidaro, T., Servais, L., Hogrel, J.Y., Decostre, V., Ledoux, I., Antonio, M., Niks, E.H., Groot, I.J.M. de, Straub, V., Muntoni, F., Ricotti, V., Voit, T., Seferian, A., Gidaro, T., and Servais, L.

Abstract

Contains fulltext : 220816.pdf (publisher's version ) (Closed access), OBJECTIVE: The main aim was to explore the changes in hand-grip strength in patients with Duchenne muscular dystrophy (DMD) aged 5-29 years. Secondary aims were to test the effect of mutation, ambulatory status and glucocorticoid use on grip strength and its changes over time and to compute the number of subjects needed for a clinical trial to stabilize grip strength. METHODS: The analysis was performed on data collected during five international natural history studies on a cohort of DMD patients. Two hundred and two patients with genetically proven DMD were pooled from five different natural history studies. Excepting 13 patients with only one visit, the mean duration of follow-up was 2.2 +/- 1.6 years. A total of 977 measurement points were collected. Grip strength was measured on the dominant side with a high precision dynamometer. The analysis was performed using absolute values and normalized values expressed in percentage of predicted values for age. RESULTS: For absolute values, grip strength typically increased in ambulatory boys and decreased in non-ambulatory patients. However, when normalized, grip strength was already reduced at age 5 years and thereafter continued to fall away from normal values. The weaker the patients, the less strength they are prone to lose over again. INTERPRETATION: Grip strength constitutes a sensitive and continuous outcome measure that can be used across all stages of DMD. Its measurement is easy to standardized, can be used in ambulatory and non-ambulatory patients and does not present any floor or ceiling effect. It is thus attractive as an outcome measure in therapeutic trials.

Published
2020

15. Treatment with Ataluren for Duchene Muscular Dystrophy

Author

Mercuri, E, Muntoni, F, Osorio, An, Tulinius, M, Buccella, F, Morgenroth, Lp, Gordish-Dressman, H, Jiang, J, Trifillis, P, Zhu, J, Kristensen, A, Santos, Cl, Henricson, Ek, Mcdonald, Cm, Desguerre, I, Bernert, G, Gosk-Tomek, M, Ille, A, Kellersmann, A, Weiss, S, Pilshofer, V, Balintovà, Z, Danhofer, P, Fabulovà, P, Jurıkovà, L, Fuchsovà, P, Haberlovà, J, Laffargue, F, Sarret, C, Pontier, B, Bellance, R, Sarrazin, E, Sabouraud, P, Magot, A, Mercier, S, Péréon, Y, Cuisset, J-M, Coopman-Degryse, S, Enaud, E, Jacquemont, M-L, Perville, A, Renouil, M, Trommsdorff, V, Verheulpen, D, Fontaine-Carbonnel, S, Vuillerot, C, Peudenier, S, Ropars, J, Audic, F, Chabrol, B, Chabrier, S, Gousse, G, Lagrue, E, Aragon, K, Barnerias, C, Brande, Lv, De Lucia, S, Gidaro, T, Seferian, A, Servais, L, Laugel, V, Espil-Taris, C, Mecili, H, Raffo, E, Ragot-Mandry, S, Borrell, S, Kirschner, J, Gangfuss, A, Henrich, M, Kolbel, H, Schara, U, Sponemann, N, Temme, E, Seeger, J, Hirsch, A, Denecke, J, Johannsen, J, Neu, A, Osinski, D, Rugner, S, Schussler, S, Trollmann, R, Kaindl, A, Schneider, Jb, Stoltenburg, C, Weiss, C, Schreiber, G, Hahn, A, Grzybowski, M, Pavlidou, E, Pavlou, E, Dobner, S, Liptai, Z, Dor, T, Brogna, C, Catteruccia, M, D’Amico, A, Pane, E, Bello, L, Pegoraro, E, Semplicini, C, Albamonte, E, Baranello, G, Comi, G, Govoni, A, Lerario, A, Magri, F, Masson, R, Mauri, E, Sansone, V, Brusa, C, Mongini, T, Ricci, F, Vacchetti, M, Bruno, C, Paniucci, C, Pedemonte, M, Giannotta, M, Pini, A, Messina, S, Sframeli, M, Vita, Gl, Vita, G, Ruggiero, L, Santoro, L, Craiu, D, Motoescu, C, Sandu, C, Teleanu, R, Vasile, D, Hughes, I, Childs, A-M, Alhaswani, Z, Roper, H, Parasuraman, D, Degoede, C, Gowda, V, Manzur, A, Munot, P, Sarkokzy, A, Charlesworth, C, Lemon, J, Turner, L, Spinty, S, Dubrovsky, A, Kornberg, A, Ryan, M, Webster, R, Biggar, Wd, Mcadam, Lc, Mah, Jh, Kolski, H, Vishwanathan, V, Chidambaranathan, S, Nevo, Y, Gorni, K, Carlo, J, Abresch, Rt, Joyce, Nc, Cnaan, A, Leshner, R, Tesi-Rocha, C, Thangarajh, M, Duong, T, Clemens, Pr, Abdel-Hamid, H, Connolly, Am, Pestronk, A, Teasley, J, Harper, A, Bertorini, Te, Kuntz, N, Driscoll, S, Day, Jw, Karachunski, P, and Lotze, T.

Subjects
safety, medicine.medical_specialty, nonsense mutation Duchenne muscular dystrophy, Duchenne muscular dystrophy, Neurosurgery, STRIDE, effectiveness, Duchenne Muscular Dystrophy, Pediatrics, Dystrophin, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Child Development, STRIDE Registry, International database, Internal medicine, medicine, Humans, In patient, Registries, Child, 030304 developmental biology, Pediatric, 0303 health sciences, Brain Diseases, Oxadiazoles, business.industry, Health Policy, Disease progression, Infant, ataluren, medicine.disease, Ataluren, Muscular Dystrophy, Duchenne, Treatment Outcome, chemistry, Neurology, Muscle Disorders, Codon, Nonsense, Neuromuscular, Propensity score matching, dystrophin, Nervous System Diseases, business, 030217 neurology & neurosurgery, Natural history study, Research Article
Abstract

Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). We examined the effectiveness of ataluren + standard of care (SoC) in the registry versus SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS), DMD genotype–phenotype/–ataluren benefit correlations and ataluren safety. Patients & methods: Propensity score matching was performed to identify STRIDE and CINRG DNHS patients who were comparable in established disease progression predictors (registry cut-off date, 9 July 2018). Results & conclusion: Kaplan–Meier analyses demonstrated that ataluren + SoC significantly delayed age at loss of ambulation and age at worsening performance in timed function tests versus SoC alone (p ≤ 0.05). There were no DMD genotype–phenotype/ataluren benefit correlations. Ataluren was well tolerated. These results indicate that ataluren + SoC delays functional milestones of DMD progression in patients with nmDMD in routine clinical practice. ClinicalTrials.gov identifier: NCT02369731. ClinicalTrials.gov identifier: NCT02369731.

Published
2020

16. Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen

Author

Aragon-Gawinska, K, Daron, A, Ulinici, A, Vanden Brande, L, Seferian, A, Gidaro, T, Scoto, M, Deconinck, N, Servais, L, and Group, SMA-Registry Study

Subjects
Male, 030506 rehabilitation, Pediatrics, medicine.medical_specialty, Oligonucleotides, Clinical Neurology, Neurological examination, Spinal Muscular Atrophies of Childhood, Baseline level, Sitting, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Neurologie, mental disorders, medicine, Humans, In patient, Pediatrics, Perinatology, and Child Health, Registries, Child, Neurologic Examination, Sitting Position, medicine.diagnostic_test, business.industry, Motor Skills -- drug effects -- physiology, Infant, Mean age, Spinal muscular atrophy, Sciences bio-médicales et agricoles, medicine.disease, Perinatology, and Child Health, Motor Skills, Child, Preschool, Pediatrics, Perinatology and Child Health, Oligonucleotides -- pharmacology -- therapeutic use, Nusinersen, Female, Neurology (clinical), Spinal Muscular Atrophies of Childhood -- drug therapy -- physiopathology, 0305 other medical science, business, 030217 neurology & neurosurgery, After treatment
Abstract

To determine factors associated with acquisition of a sitting position in patients with spinal muscular atrophy type 1 (SMA1) treated with nusinersen., info:eu-repo/semantics/published

Published
2020
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17. Baseline characteristics of patients with centronuclear myopathy due to mutations in DNM2 gene enrolled in a European prospective natural history study

Author

Annoussamy, M., Grangé, A., Lilien, C., Chê, V., Duchêne, D., Gidaro, T., Behin, A., Baets, J., D’amico, A., Daron, A., Bitoun, Marc, Paradis, K., Thielemans, L., Rooijen, S. Van, Servais, L., Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en Myologie – U974 SU-INSERM, and Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)

Subjects
[SDV]Life Sciences [q-bio]
Published
2018

18. P.107Clinical changes over time in patients with centronuclear myopathy due to mutations in DNM2 gene enrolled in a European prospective natural history study

Author

Annoussamy, M., primary, Baets, J., additional, De Ridder, W., additional, Duchêne, D., additional, Grangé, A., additional, Lilien, C., additional, Chê, V., additional, Gidaro, T., additional, Seferian, A., additional, Behin, A., additional, Voermans, N., additional, Bitoun, M., additional, Hogrel, J., additional, Freitag, C., additional, Paradis, K., additional, Thielemans, L., additional, Van Rooijen, S., additional, and Servais, L., additional

Published
2019
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19. P.200Feasibility and baseline values of continuous movement measurement in patients with centronuclear myopathy by using ActiMyo®

Author

Annoussamy, M., primary, Gasnier, E., additional, Baets, J., additional, Schara, U., additional, Grangé, A., additional, Lilien, C., additional, Chë, V., additional, Duchêne, D., additional, Gidaro, T., additional, Seferian, A., additional, Hernandez, A., additional, de Lattre, C., additional, D'Amico, A., additional, Behin, A., additional, Grelet, M., additional, Hogrel, J., additional, Landy, H., additional, Buj-Bello, A., additional, Freitag, C., additional, and Servais, L., additional

Published
2019
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20. P.240ASC-1 related myopathy: phenotypic spectrum and pathophysiology of an emerging congenital myopathy

Author

Villar-Quiles, R., primary, Duband-Goulet, I., additional, Cabet, E., additional, Davignon, L., additional, Genetti, C., additional, Gidaro, T., additional, Koparir, A., additional, Yuksel, A., additional, Coppens, S., additional, Deconinck, N., additional, Pierce-Hoffman, E., additional, Juntas-Morales, R., additional, Cossée, M., additional, Servais, L., additional, Olivé, M., additional, Beggs, A., additional, Böhm, J., additional, and Ferreiro, A., additional

Published
2019
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23. OUTCOME MEASURES

Author

Servais, L., primary, Gidaro, T., additional, Seferian, A., additional, Gasnier, E., additional, Daron, A., additional, Ulinici, A., additional, Annoussamy, M., additional, Grelet, M., additional, and Vissiere, D., additional

Published
2019
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24. MRI – MUSCLE IMAGING

Author

Reyngoudt, H., primary, Boisserie, J., additional, Le Louër, J., additional, Koumako, C., additional, Baudin, P., additional, Wong, B., additional, Stojkovic, T., additional, Behin, A., additional, Gidaro, T., additional, Servais, L., additional, Allenbach, Y., additional, Benveniste, O., additional, Marty, B., additional, and Carlier, P., additional

Published
2019
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31. SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Author

Chabanon, A., primary, Annoussamy, M., additional, Daron, A., additional, Péréon, Y., additional, Cances, C., additional, Vuillerot, C., additional, Goemans, N., additional, Cuisset, J., additional, Laugel, V., additional, Schara, U., additional, Gidaro, T., additional, Seferian, A., additional, Lowes, L., additional, Carlier, P., additional, Hogrel, JR., additional, Czech, C., additional, Hermosilla, R., additional, Kwaja, O., additional, and Servais, L., additional

Published
2018
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32. CONGENITAL MYOPATHIES: GENERAL AND RYR1

Author

Duband-Goulet, I., primary, Catervi, F., additional, Cabet, E., additional, Davignon, L., additional, Genetti, C., additional, Gidaro, T., additional, Koparir, A., additional, Coppen, S., additional, Pierce-Hoffman, E., additional, Beggs, A., additional, Servais, L., additional, and Ferreiro, A., additional

Published
2018
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33. SMA THERAPIES I

Author

Aragon-Gawinska, K., primary, Seferian, A., additional, Vanden Brande, L., additional, Daron, A., additional, Ulinici, A., additional, Deconinck, N., additional, Annoussamy, M., additional, Vuillerot, C., additional, Cances, C., additional, Ropars, J., additional, Chouchane, M., additional, Balintova, Z., additional, Modrzejewska, S., additional, Cuppen, I., additional, Hughes, I., additional, Illingworth, M., additional, Marini-Bettolo, C., additional, White, K., additional, Scoto, M., additional, Gidaro, T., additional, and Servais, L., additional

Published
2018
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34. Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy

Author

Buyse, G.M., Voit, Thomas, Schara, Ulrike, Straathof, C.S.M., D’Angelo, M.G., Bernert, G., Cuisset, J.-M., Finkel, Richard S., Goemans, N., Rummey, Christian, Leinonen, Mika, Mayer, Oscar H., Spagnolo, Paolo, Meier, Thomas, McDonald, Craig M., Knipp, F., Van den Hauwe, M., Doppler, V., Gidaro, T., Coopman, S., Lutz, S., Kirschner, J., Borell, S., Will, M., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, L., D’Ambrosio, P., Taglia, A., Verschuuren, J.J.G.M., Vílchez Padilla, J.J., Muelas Gómez, N., Sejersen, T., Hovmöller, M., Jeannet, P.-Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Bönnemann, C., Henricson, E., Joyce, N., Apkon, S., Richardson, R.C., and Van den Hauwe, M

Subjects
0301 basic medicine, Male, Ubiquinone, Duchenne muscular dystrophy, Medizin, Pediatrics, Antioxidants, Pulmonary function testing, law.invention, 0302 clinical medicine, Randomized controlled trial, law, respiratory function, Idebenone, Respiratory function, Lung volumes, Muscular Dystrophy, Child, Genetics (clinical), Respiration, Perinatology and Child Health, Inspiratory flow, Pediatrics, Perinatology and Child Health, Pulmonary and Respiratory Medicine, 3. Good health, Respiratory Function Tests, Treatment Outcome, Neurology, Cardiology, Inspiratory Reserve Volume, inspiratory flow, Female, Original Article, medicine.drug, medicine.medical_specialty, Adolescent, Outcomes, Placebo, 03 medical and health sciences, FEV1/FVC ratio, Internal medicine, medicine, Humans, Treatment effect, In patient, business.industry, Original Articles, idebenone, Muscular Dystrophy, Duchenne, Duchenne, medicine.disease, Surgery, 030104 developmental biology, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract

Assessment of dynamic inspiratory function may provide valuable information about the degree and progression of pulmonary involvement in patients with Duchenne muscular dystrophy (DMD). The aims of this study were to characterize inspiratory function and to assess the efficacy of idebenone on this pulmonary function outcome in a large and well-characterized cohort of 10-18 year-old DMD patients not taking glucocorticoid steroids (GCs) enrolled in the phase 3 randomized controlled DELOS trial. We evaluated the effect of idebenone on the highest flow generated during an inspiratory FVC maneuver (maximum inspiratory flow; V'I,max(FVC)) and the ratio between the largest inspiratory flow during tidal breathing (tidal inspiratory flow; V'I,max(t)) and the V'I,max(FVC). The fraction of the maximum flow that is not used during tidal breathing has been termed inspiratory flow reserve (IFR). DMD patients in both treatment groups of DELOS (idebenone, n = 31; placebo: n = 33) had comparable and abnormally low V'I,max(FVC) at baseline. During the study period, V'I,max(FVC) further declined by -0.29 L/sec in patients on placebo (95%CI: -0.51, -0.08; P = 0.008 at week 52), whereas it remained stable in patients on idebenone (change from baseline to week 52: 0.01 L/sec; 95%CI: -0.22, 0.24; P = 0.950). The between-group difference favoring idebenone was 0.27 L/sec (P = 0.043) at week 26 and 0.30 L/sec (P = 0.061) at week 52. In addition, during the study period, IFR improved by 2.8% in patients receiving idebenone and worsened by -3.0% among patients on placebo (between-group difference 5.8% at week 52; P = 0.040). Although the clinical interpretation of these data is currently limited due to the scarcity of routine clinical practice experience with dynamic inspiratory function outcomes in DMD, these findings from a randomized controlled study nevertheless suggest that idebenone preserved inspiratory muscle function as assessed by V'I,max(FVC) and IFR in patients with DMD. Pediatr Pulmonol. © 2016 The Authors. Pediatric Pulmonology Published by Wiley Periodicals, Inc. ispartof: Pediatric Pulmonology vol:52 issue:4 pages:508-515 ispartof: location:United States status: published

Published
2016

37. Innovative home activity monitoring in non-ambulant patients with spinal muscular atrophy: a multicenter observational trial

Author

Gargaun, E., primary, Seferian, A., additional, Quicke, G., additional, Moraux, A., additional, Gidaro, T., additional, Gasnier, E., additional, Daron, A., additional, Péréon, Y., additional, Cances, C., additional, Vuillerot, C., additional, Cuisset, J., additional, Toledano, E., additional, Hermosilla, R., additional, Khwaja, O., additional, Czech, C., additional, Chabanon, A., additional, Annoussamy, M., additional, Vissiere, D., additional, and Servais, L., additional

Published
2017
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39. New myotubular myopathy classification

Author

Lilien, C., primary, Annoussamy, M., additional, Gidaro, T., additional, Gargaun, E., additional, Chê, V., additional, Schara, U., additional, D'Amico, A., additional, Daron, A., additional, Cuisset, J., additional, Mayer, M., additional, Hernandez, A., additional, Vuillerot, C., additional, Fontaine, S., additional, deLattre, C., additional, Bellance, R., additional, Biancalana, V., additional, Buj-Bello, A., additional, Hogrel, J., additional, Landy, H., additional, and Servais, L., additional

Published
2017
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40. Associations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3

Author

Hogrel, J., primary, Annoussamy, M., additional, Chabanon, A., additional, Daron, A., additional, Péréon, Y., additional, Cancès, C., additional, Vuillerot, C., additional, Goemans, N., additional, Cuisset, J., additional, Laugel, V., additional, Schara, U., additional, Gargaun, E., additional, Gidaro, T., additional, Seferian, A., additional, Turk, S., additional, Hermosilla, R., additional, Fournier, E., additional, Baudin, P., additional, Carlier, P., additional, Servais, L., additional, and Group, NatHis SMA Study, additional

Published
2017
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41. Safety, tolerability and clinical efficacy of nusinersen in SMA type 1 older than 7 months: a prospective study

Author

Aragon-Gawinska, K., primary, Gargaun, E., additional, Seferian, A., additional, Gidaro, T., additional, Gilabert, S., additional, Lilien, C., additional, Vuillerot, C., additional, Cances, C., additional, Daron, A., additional, Marucco, E., additional, De, A., additional, Berliac, L. Flet, additional, Armier, H., additional, Fiedler, L., additional, and Servais, L., additional

Published
2017
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43. ActiMyo home monitoring in adult patients with limb girdle muscular dystrophy type 2B and facioscapulohumeral muscular dystrophy in study ATYR 1940-C-004

Author

Gidaro, T., primary, Moraux, A., additional, Grelet, M., additional, Gasnier, E., additional, Villeret, M., additional, Annoussamy, M., additional, Vissing, J., additional, Attarian, S., additional, Mozaffar, T., additional, Iyadurai, S., additional, Wagner, K., additional, Walker, G., additional, Richiardi, A., additional, Shukla, S., additional, Vissière, D., additional, and Servais, L., additional

Published
2017
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44. First experience of Nusinersen early access program in patients with spinal muscular atrophy type 1

Author

Gargaun, E., primary, Aragon-Gawinska, K., additional, Seferian, A., additional, Gidaro, T., additional, Gilabert, S., additional, Lilien, C., additional, Colcer, A., additional, Boukouti, K., additional, Vuillerot, C., additional, Cances, C., additional, Daron, A., additional, Annousamy, M., additional, De, A., additional, Berliac, L. Flet, additional, Armier, H., additional, Fiedler, L., additional, and Servais, L., additional

Published
2017
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45. Rimeporide: safety, tolerability and pharmacokinetic results from a phase Ib study in DMD boys as well as exploratory biomarkers

Author

Gidaro, T., primary, Servais, L., additional, Previtali, S., additional, Zambon, A., additional, Pitchforth, J., additional, Maresh, K., additional, Diaz, J., additional, Laveille, C., additional, Gray, J., additional, Porte-Thomé, F., additional, Gheit, H., additional, Annoussamy, M., additional, Che, V., additional, Duchene, D., additional, Sora, M., additional, Gerevini, S., additional, Vidal, N., additional, Groves, K., additional, Brimble, J., additional, and Muntoni, F., additional

Published
2017
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46. Longitudinal data of the European prospective natural history study of patients with type 2 and 3 spinal muscular atrophy

Author

Chabanon, A., primary, Annoussamy, M., additional, Daron, A., additional, Pereon, Y., additional, Cances, C., additional, Vuillerot, C., additional, Goemans, N., additional, Cuisset, J., additional, Laugel, V., additional, Schara, U., additional, Gargaun, E., additional, Gidaro, T., additional, Seferian, A., additional, Lowes, L., additional, Carlier, P., additional, Hogrel, J., additional, Czech, C., additional, Hermosilla, R., additional, Khwaja, O., additional, and Servais, L., additional

Published
2017
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47. Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study

Author

Annoussamy, M., primary, Lilien, C., additional, Gidaro, T., additional, Gargaun, E., additional, Chê, V., additional, Schara, U., additional, D'Amico, A., additional, Daron, A., additional, Cuisset, J., additional, Mayer, M., additional, Hernandez, A., additional, Vuillerot, C., additional, Fontaine, S., additional, de Lattre, C., additional, Bellance, R., additional, Biancalana, V., additional, Buj-Bello, A., additional, Hogrel, J., additional, Landy, H., additional, and Servais, L., additional

Published
2017
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48. Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy

Author

Meier, Thomas, primary, Rummey, Christian, additional, Leinonen, Mika, additional, Spagnolo, Paolo, additional, Mayer, Oscar H., additional, Buyse, Gunnar M., additional, Bernert, G., additional, Knipp, F., additional, Buyse, G.M., additional, Goemans, N., additional, Van den Hauwe, M., additional, Voit, T., additional, Doppler, V., additional, Gidaro, T., additional, Cuisset, J.-M., additional, Coopman, S., additional, Schara, U., additional, Lutz, S., additional, Kirschner, J., additional, Borell, S., additional, Will, M., additional, D'Angelo, M.G., additional, Brighina, E., additional, Gandossini, S., additional, Gorni, K., additional, Falcier, E., additional, Politano, L., additional, D'Ambrosio, P., additional, Taglia, A., additional, Verschuuren, J.J.G.M., additional, Straathof, C.S.M., additional, Vílchez Padilla, J.J., additional, Muelas Gómez, N., additional, Sejersen, T., additional, Hovmöller, M., additional, Jeannet, P.-Y., additional, Bloetzer, C., additional, Iannaccone, S., additional, Castro, D., additional, Tennekoon, G., additional, Finkel, R., additional, Bönnemann, C., additional, McDonald, C., additional, Henricson, E., additional, Joyce, N., additional, Apkon, S., additional, and Richardson, R.C., additional

Published
2017
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