Updated demographics and safety data from patients with nonsense mutation Duchenne muscular dystrophy receiving ataluren in the STRIDE Registry



Poster Number: 96


Pannie Trifillis, PTC Therapeutics Inc., South Plainfield, NJ, USA, Francesco Muntoni, MD, Great Ormond Street Institute of Child Health, London, UK, Filippo Buccella, Parent Project APS, Rome, Italy, Isabelle Desguerre, Hôpital Necker – Enfants Malades, Paris, France, Janbernd Kirschner, MD, Medical Center-University of Freiburg; University Hospital Bonn, Faculty of Medicine, Eugenio Mercuri, Paediatric Neurology and Centro Clinico Nemo, Catholic University and Policlinico Gemelli, Fondazion, Andres Nascimento-Osorio, MD, Hospital Sant Joan de Déu, Unidad de Patología Neuromuscular, Universidad de Barcelona, Spain, Már Tuliniums, MD, Department of Pediatrics, Gothenburg University, Queen Silvia Children’s Hospital, Sweden, Shelley Johnson, DBA, MBA, PTC Therapeutics Inc., South Plainfield, NJ, USA, Christian Werner, PhD, PTC Therapeutics Germany GmbH, Frankfurt, Germany, Allan Kristensen, PhD, PTC Therapeutics Inc., South Plainfield, NJ, USA, Joel Jiang, PhD, PTC Therapeutics Inc., South Plainfield, NJ, USA, James Li, PTC Therapeutics Inc., South Plainfield, NJ, USA, Rich Able, PhD, PTC Therapeutics, Claudio L. Santos, MD, MBA, PTC Therapeutics Inc., South Plainfield, NJ, USA

Background: Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder caused by a lack of functional dystrophin. Ataluren promotes readthrough of an in-frame premature stop codon to produce full-length dystrophin and is indicated for the treatment of patients with nonsense mutation (nm) DMD. Strategic Targeting of Registries and International Database of Excellence (STRIDE; NCT02369731) is an ongoing registry providing real-world data on ataluren use in patients with nmDMD.

Objective: We aimed to describe the demographics of the STRIDE population and the interim safety results, as of January 31, 2021.

Methods: Data from enrolled patients are collected at the consent date; for patients who initiated ataluren as part of a commercial or early access program before enrollment, data for the period prior to enrollment are obtained retrospectively. Patients will be followed up for ?5 years or until study withdrawal.

Results: As of January 31, 2021, 286 boys had been enrolled in STRIDE in 13 countries and received at least one ataluren dose. Total mean (standard deviation [SD]) ataluren exposure was 1352 (517) days; equivalent to 1059 patient-years. Safety outcomes were consistent with the known safety profile of ataluren. Thirty-one of the 286 boys discontinued the study. Of the 286 boys enrolled, 269 had genetically confirmed nmDMD. Most patients were Caucasian (194/269 [72.1%]) and the mean (SD) age at consent date was 9.9 (3.8) years (n=269). Mean (SD) age at first symptoms was 2.7 (1.7) years (n=244); at nmDMD confirmation it was 4.9 (2.7) years (n=260). Median time between first symptoms and nmDMD confirmation was 1.4 years (n=240). Most patients used concomitant corticosteroids (237/269 [88.1%]).

Conclusions: STRIDE is the first drug registry for nmDMD patients. The interim registry data suggest that ataluren has a favorable safety profile when used in routine clinical practice, which is consistent with that shown in clinical trials.