Study to Assess the Efficacy and Safety of Viltolarsen in Ambulant Boys With DMD (RACER53)
Duchenne Muscular DystrophyThe main objective of this study is to evaluate the efficacy of Viltolarsen compared to placebo in Duchenne muscular dystrophy (DMD) patients amenable to exon 53 skipping.
A Study to Assess Vamorolone in Becker Muscular Dystrophy (BMD)
Becker Muscular DystrophyThis Phase II pilot study is a randomized, double-blind, placebo-controlled study to evaluate the safety, tolerability, PK, PD, and exploratory clinical efficacy of vamorolone 500mg (250mg for body weight <50 kg) daily administered orally compared to placebo over a treatment period of 24 weeks in males with BMD. Funding Source - FDA OOPD
Study of AOC 1044 in Healthy Adult Volunteers and Participants With Duchenne Muscular Dystrophy...
Duchenne Muscular DystrophyExon 44AOC 1044-CS1 (EXPLORE44) is a Phase 1/2 study to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamic effects of single and multiple ascending doses of AOC 1044 in healthy adult volunteers and participants with DMD mutations amenable to exon 44 skipping. Part A is a single dose design with multiple cohorts (dose levels) in healthy adult volunteers. Part B is a multiple-ascending dose design with 3 cohorts (dose levels) in participants with Duchenne.
Study to Assess the Safety and Efficacy of Viltolarsen in Ambulant Boys With DMD (RACER53-X)
Duchenne Muscular DystrophyThis is a Phase 3, multi-center, open-label extension study in ambulant boys with DMD who have completed the 48-week treatment period of either viltolarsen or placebo in Study NS-065/NCNP-01-301.
Open-Label Extension of EDG-5506 in Participants With Becker Muscular Dystrophy
Becker Muscular DystrophyEDG-5506-203 MESA is an open-label extension study to assess the long-term effect of EDG-5506 on safety, biomarkers, and functional measures in adults and adolescents with Becker muscular dystrophy
A Gene Transfer Therapy Study to Evaluate the Safety of and Expression From Delandistrogene Moxeparvovec...
Muscular DystrophyDuchenneThis is an open-label gene transfer therapy study evaluating the safety of and expression from delandistrogene moxeparvovec in participants with DMD. The maximum participant duration for this study is 156 weeks.
Study of Ataluren in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD)...
Duchenne Muscular DystrophyThe objective of this study is to assess the safety and tolerability of 10, 10, 20 milligrams per kilogram (mg/kg) ataluren in participants with nmDBMD who had prior exposure to ataluren in a PTC sponsored clinical trial or treatment plan, and siblings of those participants (provided those participants have completed the placebo-controlled portion of the trial). The treatment will continue under this protocol until consent withdrawal by participants, withdrawal due to worsen condition after initiating ataluren treatment, withdrawal by investigator, withdrawal due to participant unable to tolerate ataluren, participant is eligible to participate in another ataluren nmDBMD clinical trial program initiated by sponsor, study is discontinued by the relevant regulatory authority and/or sponsor, or until ataluren becomes commercially available.
Parent-Infant Inter(X)Action Intervention (PIXI)
Fragile X SyndromeAngelman Syndrome12 moreThe objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of neurogenetic disorders that leave individuals at risk for developmental delays or intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to improve outcomes for infants with suspected developmental delays. Participants will be infants with a confirmed diagnosis of a neurogenetic disorder (e.g., fragile X, Angelman, Prader-Willi, Dup15q, Phelan-McDermid, Rhett, Smith Magenis, Williams, Turner, Kleinfelter, Down syndromes, Duchenne muscular dystrophy) within the first year of life and their parents/caregivers. The intervention, called Parent-infant Inter(X)action Intervention (PIXI) is a comprehensive program inclusive of parent education about early infant development and the neurogenetic disorder for which they were diagnosed, direct parent coaching around parent-child interaction, and family/parent well-being support. The protocol includes repeated comprehensive assessments of family and child functioning, along with an examination of feasibility and acceptability of the program.
Givinostat in Duchenne's Muscular Dystrophy Long-term Safety and Tolerability Study
Duchenne Muscular DystrophyThis is an open label, long-term safety, tolerability, and efficacy study of GIVINOSTAT in all DMD (Duchenne's muscular dystrophy) patients who have been previously treated in one of the GIVINOSTAT studies.
Phase 1/2a for Safety, PK and PD of SQY51 in Paediatric and Adult Patients Duchenne Muscular Dystrophy...
Duchenne Muscular DystrophyThis is a Phase 1/2a, monocentric, open label study to evaluate the safety, pharmacokinetics, and pharmacodynamics of SQY51 in patients with Duchenne muscular dystrophy