View clinical trials related to Muscular Dystrophies.
Filter by:(-)-Epicatechin will be evaluated for the treatment of progressive muscle loss and impaired skeletal muscle function in Becker Muscular Dystrophy (BMD) patients.
Background: - Some kinds of muscular dystrophy affect the skeletal muscle membrane. In these conditions, the muscle membrane is more fragile. This affects how the muscles contract and relax, which causes movement problems. Researchers are looking at several muscle enzymes, or chemicals that affect how muscle cells function. By studying changes in these enzymes, they may be able to better understand how muscular dystrophy affects the cells. Researchers want to collect biomarkers (chemicals from blood samples) from people with fragile sarcolemmal muscular dystrophy. This information may provide better treatments for this condition. Objectives: - To study biomarkers that may affect the muscles of people with fragile sarcolemmal muscular dystrophy. Eligibility: - Individuals at least 18 years of age with fragile sarcolemmal muscular dystrophy. Design: - Participants will be screened with a medical history and physical exam. - Participants will be asked to come for four visits to the National Institutes of Health Clinical Center. The visits will be at least 2 months apart. Each visit will require participants to stay for 5 days at the clinical center. - During each visit, participants will provide frequent small blood samples. These samples will be collected while at rest and after physical exercise. - Participants will also have a physical therapy assessment. They will perform standard motor function tests and imaging tests (MRI, MRS). These tests may take up to 1 hour each time. - Treatment will not be provided as part of this study.
The main purpose of this study is to test the safety and tolerability of different, increasing doses of an experimental medication called HT-100 in boys and young men with Duchenne muscular dystrophy (DMD). The study medication, HT-100, is a medicine that may help promote healthy muscle regeneration, diminish inflammation and the resulting damage to muscle, and decrease the scar tissue that forms in the muscles of children with DMD. In this study, pharmacokinetic sampling, or measurements of the amount of HT-100 in the bloodstream will also be taken.
This research study includes children ages 5 to 20 years old with Collagen Type 6 Congenital Muscular Dystrophy or Laminin α2-related muscular dystrophy (LAMA2-MD). The goal of this study is to measure the effect of breathing exercise to stretch the chest in slowing the loss of breathing function. The breathing stretches are done with a machine called Cough Assist®. The study is being done at Cincinnati Children's Hospital Medical Center and Children's Hospital of Philadelphia. The study involves traveling to one of these 2 centers for 4 visits over 13 months. The study also includes 3 sets of phone visits called Daily Phone Diaries. Participants will be "randomized" into one of 2 study groups in a 1:1 ratio. The treatment group will use the Cough Assist® machine twice a day for 15 minutes. The control group will continue with their current daily care. The Cough Assist® is a machine that blows air into the lungs (insufflation) and helps pull air out of the lungs. The investigators will be blowing enough air into the lungs to cause a stretch to the chest. This is called hyperinsufflation. Study visits will last about 5 to 6 hours and will include medical and quality of life questionnaires and pulmonary function tests to determine lung function and the individualized settings to be prescribed for the Cough Assist®.
This Study is single arm, single centre trial to check the safety and efficacy of Bone Marrow derived autologous cell(100 million per dose) for the patient with Duchenne Muscular Dystrophy.
This Study is single arm, single center trial to check the safety and efficacy of BMMNC (100 million per dose) for the patient with Duchenne Muscular Dystrophy,
Dystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of dystrophinopathy in approximately 10-15 percent (%) of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. The main goal of this Phase 3 study is to evaluate the effect of ataluren on walking ability. The effect of ataluren on physical function, quality of life, and activities of daily living will be evaluated. This study will also provide additional information on the long-term safety of ataluren.
The purpose of the study is to see whether PRO045 is safe and effective to use as medication for Duchenne Muscular Dystrophy (DMD) patients with a mutation around location 45 in the DNA for the dystrophin protein.
The purpose of this study is to evaluate the effect of docosahexaenoic fatty acid and eicosapentaenoic fatty acid supplementation for six months on the inflammation state as well as the process of muscular regeneration and the metabolic disorders like obesity and insulin resistance in patients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (DMB) compared to those receiving placebo.
Duchenne muscular dystrophy (DMD) is the most common and devastating form of muscular dystrophy, caused by an X-chromosome gene mutation resulting in the absence of the protein dystrophin. Gene therapy by exon skipping or stop codon read-through and cell therapy are at the stage of clinical assays with very promising results. Nevertheless, they will not allow a complete cure of DMD patients and they will concern only specific types of mutations. It is therefore crucial to develop other therapeutic strategies related to the natural history of the disease and targeted not on the dystrophin itself, but on the consequences of its absence. Another crucial pathophysiological pathway in DMD is muscle cell calcium homeostasis, particularly via the ryanodine recepteur (RyR1). Our study focus on the relationship between endomysial fibrosis, abnormal inflammation response and calcium homeostasis dysfunction which are not entirely established in DMD. The identification of the biological mechanisms that play a role in the severity of the phenotype, particularly endomysial fibrosis, should allow the development of targeted pharmacotherapy as a complementary strategy for the future treatment of DMD.