View clinical trials related to Muscular Dystrophies.
Filter by:The purpose of this study is to assess the safety and biological activity of ATYR1940 in participants with early onset FSHD.
The expanded access program will provide access to treatment with deflazacort in children, adolescent, and adult patients with DMD in the U.S. who are ineligible, unable, or otherwise unwilling to enroll in a clinical study examining the efficacy of deflazacort while a new drug application is under preparation and review. Enrollment is open to all eligible patients.
The purpose of this study is to assess the safety and biological activity of ATYR1940 in participants with LGMD2B and FSHD.
"Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne Muscular Dystrophy" is a single centre observational study that aims to follow the progress of 20 adolescents with Duchenne Muscular Dystrophy (DMD) and delayed puberty who are treated by the Newcastle muscle team, as they are treated with testosterone to induce puberty. The participants will all be treated with the standard stepwise regimen of testosterone injections every 4 weeks and data will be collected to help determine the effectiveness and tolerability of the current treatment regimen. The investigators will use the data to explore the effect of testosterone on pubertal development, growth, muscle strength and function, bone mineral density and body composition and characterise any side effects. Semi-structured interviews will also be carried out to learn the boys' views on the tolerability of the regimen. The study will last up to a maximum of 27 months in total for each participant, but may be less if they are happy with pubertal development before this time. It is important to do this study because from the investigator's limited experience in this group, testosterone treatment seems to be well liked and tolerated but the best treatment regimen to use remains unknown and there is no current consensus. It is not currently part of the standard of care in DMD but it would be important to include it if this study can show that it is an effective treatment for pubertal delay.
Facioscapulohumeral muscular dystrophy (FSHD) is the second most common muscular dystrophy with approximately 500 patients in Denmark. It is characterized by weakness and wasting of the facial muscles, the muscles in the shoulder region and of the legs. The primary aim of this study is to investigate possible links and order between inflammation and fat infiltration in the muscles in patients with FSHD. Approximately 15 patients with FSHD will be recruited for repeated MRI-scans during a year where the inflammation and fat infiltration in the muscles can be quantified.
The goal of this study is to establish a genetic registry of patients with early-onset motor neuron and neuromuscular diseases. The investigators will collect samples from patients with a motor neuron or a neuromuscular disorder and their family members. The samples to be collected will be obtained using minimally invasive (whole blood) means. The research team will then extract high quality genomic DNA or RNA from these samples and use it to identify and confirm novel gene mutations and to identify genes which regulate the severity of motor neuron/neuromuscular diseases.
The purpose of this study is to assess the safety and tolerability profile of ATYR1940 in the treatment of adult participants with molecularly defined genetic muscular dystrophies.
This is a first-in-human dose-titration and open-label extension study to assess safety, tolerability, and pharmacokinetics of SRP-4045 in advanced-stage Duchenne muscular dystrophy (DMD) patients with deletions amenable to exon 45 skipping.
This study, HALO-DMD-03, is a follow-on study to HALO-DMD-01 and HALO-DMD-02, and allows continued open-label access to HT-100 for subjects who have completed these studies. HALO-DMD-03 will provide safety and strength and function data on continuous long-term dosing. Data from this study will be used to inform the safety, tolerability, and dose selection for a future trial of HT-100 in boys with Duchenne Muscular Dystrophy (DMD).
Despite the strong business case of hiring people with disabilities, a significant proportion of youth with disabilities leave high school and neither work nor continue their education and are unprepared to meet the demands of a work environment. Although youth with disabilities have much to gain from employment readiness programs, they are often excluded from, or have limited access to school and community vocational programs. One encouraging approach to address gaps in vocational programming is through peer mentoring, which may facilitate a smoother transition to adulthood by offering support to enhance coping skills. Despite the increase in online communities, little is known about their impact on vocational mentoring for youth with physical disabilities and their parents. The purpose of this study is to develop, implement and assess the feasibility of an online peer mentor employment readiness intervention for youth with physical disabilities and their parents to improve their self-efficacy, career maturity and social support.