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1. Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.

Author

Mercuri, Eugenio, Osorio, Andrés, Muntoni, Francesco, Buccella, Filippo, Desguerre, Isabelle, Kirschner, Janbernd, Tulinius, Már, de Resende, Maria, Morgenroth, Lauren, Gordish-Dressman, Heather, Johnson, Shelley, Kristensen, Allan, Werner, Christian, Trifillis, Panayiota, Henricson, Erik, and McDonald, Craig

Subjects
Ataluren, Effectiveness, Nonsense mutation Duchenne muscular dystrophy, STRIDE Registry, Safety, Humans, Codon, Nonsense, Muscular Dystrophy, Duchenne, Registries, Disease Progression
Abstract

OBJECTIVE: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, international, multicenter registry of real-world ataluren use in individuals with nonsense mutation Duchenne muscular dystrophy (nmDMD) in clinical practice. This updated interim report (data cut-off: January 31, 2022), describes STRIDE patient characteristics and ataluren safety data, as well as the effectiveness of ataluren plus standard of care (SoC) in STRIDE versus SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS). METHODS: Patients are followed up from enrollment for at least 5 years or until study withdrawal. Propensity score matching was performed to identify STRIDE and CINRG DNHS patients who were comparable in established predictors of disease progression. RESULTS: As of January 31, 2022, 307 patients were enrolled from 14 countries. Mean (standard deviation [SD]) ages at first symptoms and at genetic diagnosis were 2.9 (1.7) years and 4.5 (3.7) years, respectively. Mean (SD) duration of ataluren exposure was 1671 (56.8) days. Ataluren had a favorable safety profile; most treatment-emergent adverse events were mild or moderate and unrelated to ataluren. Kaplan-Meier analyses demonstrated that ataluren plus SoC significantly delayed age at loss of ambulation by 4 years (p

Published
2023

2. Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study.

Author

Mercuri, Eugenio, Muntoni, Francesco, Osorio, Andrés, Tulinius, Már, Buccella, Filippo, Morgenroth, Lauren, Gordish-Dressman, Heather, Jiang, Joel, Trifillis, Panayiota, Zhu, Jin, Kristensen, Allan, Santos, Claudio, Henricson, Erik, Desguerre, Isabelle, and McDonald, Craig

Subjects
STRIDE Registry, ataluren, dystrophin, effectiveness, nonsense mutation Duchenne muscular dystrophy, safety, Codon, Nonsense, Dystrophin, Humans, Muscular Dystrophy, Duchenne, Oxadiazoles, Registries, Treatment Outcome
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

3. 226th ENMC International Workshop : Towards validated and qualified biomarkers for therapy development for Duchenne muscular dystrophy 20–22 January 2017, Heemskerk, The Netherlands

Author

Aartsma-Rus, Annemieke, Ferlini, Alessandra, McNally, Elizabeth M., Spitali, Pietro, Sweeney, H. Lee, Szigyarto, Christina Al-Khalili, Bello, Luca, Bronson, Abby, Brown, Kristy, Buccella, Filippo, Chadwick, Jessica, Frank, Diane, Hoffman, Eric, Larkindale, Jane, McClorey, G., Munschauer, Rick, Muntoni, Francesco, Owens, Jane, Schara, Ulrike, Straub, Volker, Tinsley, Jon, Versnel, Jenny, Vroom, Elizabeth, and Welch, Ellen

Subjects
Medizin
Published
2018

4. Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry

Author

Muntoni, Francesco, primary, Desguerre, Isabelle, additional, Guglieri, Michela, additional, Osorio, Andrés Nascimento, additional, Kirschner, Janbernd, additional, Tulinius, Már, additional, Buccella, Filippo, additional, Elfring, Gary, additional, Werner, Christian, additional, Schilling, Traci, additional, Trifillis, Panayiota, additional, Zhang, Olivia, additional, Delage, Abdallah, additional, Santos, Claudio L, additional, and Mercuri, Eugenio, additional

Published
2019
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6. The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

Author

Bladen, Catherine, Salgado, David, Monges, Soledad, Foncuberta, Maria E, Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna, Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lahdetie, Jaana, Walter, Maggie C, Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Kimura, En, Koeks, Zaïda, van den Bergen, Jan, Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Zimowski, Jan, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Jeannet, Pierre-Yves, Joncourt, Franziska, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A Ayşe, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V, Martin, Ann S, Peay, Holly L, Bellgard, Matthew I, Kirschner, Jan, Flanigan, Kevin M, Straub, Volker, Bushby, Kate, Verschuuren, Jan, Aartsma-Rus, Annemieke, Béroud, Christophe, Lochmuller, Hanns, Foncuberta, Maria E., Walter, Maggie C., Karaduman, A. Ayşe, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Bellgard, Matthew I., Flanigan, Kevin M., Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Neuropaediatrics, Garrahan National Paediatric Hospital, Centre for Comparative Genomics, Murdoch University, Department of Biological and Environmental Engineering, Cornell University [New York], Department of Embryology [Warsaw], Institute of Zoology [Warsaw], Faculty of Biology [Warsaw], University of Warsaw (UW)-University of Warsaw (UW)-Faculty of Biology [Warsaw], University of Warsaw (UW)-University of Warsaw (UW), Medicina Pediátrica y del Desarrollo, Instituto de Investigación en Enfermedades Raras (IIER)-Instituto de Salud Carlos III [Madrid] (ISC), Department of Neurology, Human Genetics, Newcastle University [Newcastle], Çocuk Sağlığı ve Hastalıkları, Unión Europea. Comisión Europea. 6 Programa Marco, Unión Europea. Comisión Europea. 7 Programa Marco, and Instituto de Salud Carlos III [Madrid] (ISC)-Instituto de Investigación en Enfermedades Raras (IIER)

Subjects
Duchenne muscular dystrophy, Databases, Genetic, Dystrophin/genetics, Humans, Muscular Dystrophy, Duchenne/genetics, Mutation, Registries, DMD, TREAT-NMD, rare disease registries, Nonsense mutation, 610 Medicine & health, Biology, ta3111, Eteplirsen, Dystrophin, Databases, 03 medical and health sciences, Exon, 0302 clinical medicine, Genetics, medicine, Missense mutation, Genetics (clinical), 030304 developmental biology, 0303 health sciences, ta1184, Point mutation, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, Rare disease registries, Exon skipping, Stop codon, 3. Good health, Muscular Dystrophy, Duchenne, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], 030217 neurology & neurosurgery
Abstract

Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations). Contract grant sponsor(s): TREAT-NMD (FP6LSHM-CT-2006-036825, 20123307 UNEW_FY2013, and AFM 16104); European Union Seventh Framework Programme (FP7/2007-2013) (305444 [RD-Connect] and 305121 [Neuromics]). Sí

Published
2015

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