View clinical trials related to Muscular Dystrophy, Duchenne.
Filter by:To characterize the clinical phenotype and possible predictive/prognostic factors of patients with Duchenne muscular dystrophy (DMD) due to duplication of exon 2 (Dup2). Specifically, we aim 1) to describe the progression of motor, respiratory and cardiac function; 2) to enquire if the phenotypic spectrum of Dup2 is milder than classic DMD, 3) to perform whole genome sequencing (WGS) to characterize DNA breakpoints to correlate with the phenotype; 4) to collect material for future proteomic/transcriptomic studies. Background/Rationale DMD is caused by mutations in the DMD gene and in 11% of cases is due to duplications. The most promising therapeutic approaches include mutation-specific therapies. Notably, there is increasing evidence that specific groups of mutations may underlie different disease trajectories compared to the "average" DMD population. It is thus mandatory to have more information on genotype-phenotype correlations and patterns of progression related to different genotypes. Dup2 is the most common DMD duplication and the only one for which a AAV-mediated exon skipping study is ongoing. Despite most case series and databases ascribe Dup2 to severe phenotype, our preliminary findings sustain that these patients have collectively a milder progression of the disease and in 1/3 of cases a significantly milder phenotype. Moreover, our attempts to reveal mechanism involved in attenuating the phenotype would confute the hypothesis of alternative spicing transcripts as previously described for DMD with deletion of exon 2. Research design and methods Clinical information regarding a cohort of 26 Italian Dup2 patients will be collected. Differences in time to loss of ambulation compared to a DMD control group will be achieved. Finally, we will retrieve DNA for correlative WGS studies. Anticipated output We expect that Dup2 patients present a milder DMD phenotype , which might be predicted by genomic studies.
A Multi-center, Randomized, Double-blind, Placebo-controlled, Phase 1/2 Trial to Evaluate the Efficacy and Safety of EN001 in Patients with Duchenne Muscular Dystrophy
This Phase 2, multi-center, open-label extension trial will provide CAP-1002 to participants who were randomized to the Usual Care treatment group of the HOPE-Duchenne study (NCT02485938) and completed 12 months of follow-up. The trial will assess the safety and efficacy of two intravenous administrations of CAP-1002, each separated by three months.
Thanks to tele-assessment methods, it may be possible to evaluate DMD patients without traveling to clinical centers. In recent years, the applicability of remote assessment methods in DMD patients, as in many populations, is being investigated. However, studies have generally focused on a single evaluation parameter such as physical function, a special evaluation method or a special evaluation tool. The aim of this study is to investigate whether remote assessment of functional performance and quality of life in DMD patients is valid and reliable. If a valid and reliable tele-evaluation method that includes functional performance and quality of life parameters is found to be valid and reliable, the travel burden on patients and caregivers can be eased, patients' stress and anxiety related to travel can be reduced, caregivers can save time and energy and provide patients with the best possible treatment.
Examining two strategies as potential adjuvant therapies for Duchenne muscular dystrophy (DMD); aerobic exercise training (to induce adaptations in skeletal muscle and improve cardiovascular health) and tadalafil, an FDA-approved vasodilator (to optimize blood flow and muscle perfusion which is impaired and often overlooked in DMD). Target: improved muscle function, vascular health, and DMD treatment.
The purpose of this study is to test the safety and tolerability of BMN 351 in participants with Duchenne Muscular Dystrophy (DMD) with a genetic mutation amenable to exon 51 skipping.
This study will help determine if an Interactive Virtual Reality system can improve the physiotherapy of young patients with Duchenne muscular dystrophy (DMD).
This is a multicenter, prospective, observational Phase 4 study in the United States. The study is designed to collect both medical history and prospective data on Duchenne muscular dystrophy (DMD) treatment outcomes in participants receiving delandistrogene moxeparvovec as part of clinical care, compared to participants with DMD receiving or prescribed to start chronic glucocorticoid treatment at baseline in routine clinical practice. In addition, treatment outcomes will be collected prospectively from post-trial participants who have received delandistrogene moxeparvovec through participation in select SRP-9001 studies.
AOC 1044-CS2 (EXPLORE44-OLE) is an Open-label Study to Evaluate the Pharmacodynamics and Long-Term Safety and Tolerability of AOC 1044 Administered Intravenously to DMD Participants with Mutations Amenable to Exon 44 Skipping.
This is a gene transfer therapy study evaluating the safety of delandistrogene moxeparvovec and delandistrogene moxeparvovec dystrophin expression in association with imlifidase, in participants with DMD with pre-existing antibodies to rAAVrh74 over a period of 104 weeks.