View clinical trials related to Muscular Dystrophy, Duchenne.
Filter by:The aims of the study are to prospectively collect information on several aspects of function in non-ambulant DMD patients by using a structured battery of tests including motor, respiratory and cardiac function
The purpose of this study is to analyze the effectiveness of a 5-weeks respiratory digital intervention program in patients with Duchenne muscular dystrophy and Becker muscular dystrophy.
The goal of this clinical trial is to investigate the effect of a muscle-mimicking, fabric-type shoulder orthosis on functional movements of the upper limb in patients with Duchenne muscular dystrophy. The main questions it aims to answer are: - What is the impact of the muscle-mimicking, fabric-type shoulder orthosis on upper limb functional movements in patients with Duchenne muscular dystrophy? - Are there observable differences in upper limb function when the shoulder orthosis is worn versus when it is not? Participants will: - Receive education on how to wear and use the shoulder orthosis. - Undergo evaluations, including assessment of upper limb performance, shoulder muscle strength testing, active range of motion measurements, assessment of functional workspace, goal attainment scale evaluation, surface electromyography, physiological measurements such as blood pressure and heart rate, fatigue assessment, and assessment for any musculoskeletal or skin-related issues. Researchers will compare Duchenne muscular dystrophy patients before and while wearing and operating the shoulder orthosis to see if there are any significant effects on variables such as upper limb function, range of motion, functional workspace, goal attainment scale, and surface electromyography.
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).