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


Topic:

Other

Poster Number: 187

Author(s):

Pannie (Panayiota) Trifillis, PhD, PTC Therapeutics Inc, Francesco Muntoni, MD, UCL Institute of Child Health and Great Ormond Street Hospital for Children, Filippo Buccella, Parent Project APS, Isabelle Desguerre, MD, PhD, Hôpital Necker Enfants Malades, APHP, Janbernd Kirschner, PhD, University Medical Center Freiburg, Andres Nascimento Osorio, MD, Hospital Sant Joan de Déu. U.B., Már Tulinius, Department of Pediatrics, Gothenburg University, Queen Silvia Children’s Hospital, Shelley Johnson, DBA, MBA, PTC Therapeutics Inc, Christian Werner, Dr. med., PTC Therapeutics, Eugenio Mercuri, MD, PhD, Department of Paediatric Neurology and Nemo Clinical Centre, Catholic University

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 nmDMD patients.

Objectives: We aimed to describe the demographics of the STRIDE population and interim safety results, as of January 31, 2022, the latest data cut-off date.

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, 2022, 306 patients had been enrolled in STRIDE in 14 countries and received at least one ataluren dose. Total mean (standard deviation [SD]) exposure to ataluren was 1623 (586.3) days; equivalent to 1359.8 patient-years. Safety outcomes were consistent with the known safety profile of ataluren. Forty-three of the 306 boys discontinued the study. Of the 306 boys enrolled, 290 had genetically confirmed nmDMD. Most patients were white (213/290 [73.4%]) and the mean (SD) age at consent date was 10.2 (4.2) years (n=290). Mean (SD) age at first symptoms was 2.8 (1.7) years (n=273); at nmDMD confirmation it was 5.1 (3.2) years (n=281). Median time between first symptoms and nmDMD confirmation was 1.4 years (n=269). Most patients used concomitant corticosteroids (261/290 [90.0%]).

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