View clinical trials related to Muscular Diseases.
Filter by:This is a prospective, longitudinal study of the natural disease course intended to recruit approximately 60 patients with centronuclear myopathies (CNM) in Europe and the United States. The duration of the study, including the enrollment period, will be approximately 4 years. Data from the study will be used to characterize the natural disease course of CNM, to identify prognostic variables of the disease and to determine the best outcome measure(s) for the evaluation of future therapeutic approaches.
There are no available treatments aside from supportive care for patients with Centronuclear myopathy (CNM). This trial will assess the safety and tolerability as well as pharmacokinetics (PK), pharmacodynamics (PD) and preliminary efficacy of DYN101 in participants 2 to 17 years of age with CNM caused by mutations in DNM2 or MTM1.The trial will consist of a pre-screening consent, a screening period, a run-in period (if applicable), and a Part 1 of 12 weeks with weekly infusion of DYN101 to evaluate safety and tolerability as well as PK, PD and preliminary efficacy. The dose level may need adjustment based on the Part 1 results of the current study and available data from the Unite-CNM study (DYN101-C101, NCT04033159). If a dose adjustment is needed, Part 2 will be conducted in the same participants and the newly selected dose level will be used to assess whether efficacy is seen after an additional 12 weeks of treatment. As this trial is investigational, there is no defined, expected benefit for subjects who participate in this trial except a better knowledge of their disease.
This is a phase 2, pilot, randomized, placebo-controlled trial of Gamunex-C IVIG as mono-therapy for HMGCoA reductase auto-antibody positive (HMGCR) necrotizing myopathy. The trial will test the feasibility and initial efficacy of Gamunex-C IVIG mono-therapy in HMGCR necrotizing myopathy.
Background: -(Degree)ystinosis is an inherited disease. If not treated correctly, it can cause muscle wasting and weakness and kidney damage. Researchers want to learn if growth hormone (GH) can help people with cystinosis. Objective: - To learn if GH treatment can slow or reverse muscle wasting and improve muscle strength in people with cystinosis. Eligibility: - People 18 and older who are already enrolled in protocol 78-HG-0093. Design: - Participants will be admitted to the clinic for eight 3 4 day visits, mostly four months apart. - At each visit, participants will have a history and physical exam and give urine and blood samples. - At month 0 or 13, participants will take tests that will be repeated at their 12- or 25-month visit: - They will have an eye exam, medical consultations, and strength and movement tests. - They will complete questionnaires. - They may have tests of heart activity and lung function. - They will have ultrasound imaging of their arm and hand muscles. They will have a scan of their legs while lying in a magnetic resonance imaging machine (a big metal cylinder). They will have a DEXA bone scan (two X-ray beams measure body composition). They will also swallow barium while X-ray imaging records the throat muscles. - Participants will be randomly assigned to either receive or not receive GH for the first 12 months. Then, at month 13, if they received GH, they will switch for the next 12 months. - Participants will take GH as a daily injection. They will be taught how to give the injections.
The researcher can use Diffuse Optical spectroscopy technique that uses harmless levels of near-infrared light to probe the concentrations and states of important physiological molecules such as hemoglobin water and lipids in human muscle,.
There is a significant proportion of patients complaining of muscle symptoms while on statin therapy who have a measurable difference in muscle strength or endurance and whose muscle biopsies are diagnostic for myopathy.