View clinical trials related to Muscular Dystrophies.
Filter by:This study is designed to assess the efficacy, safety, tolerability, and pharmacokinetics (PK) of AVI-4658 (eteplirsen) in both 50.0 mg/kg and 30.0 mg/kg doses administered over 24 weeks in subjects diagnosed with Duchenne muscular dystrophy (DMD).
The purpose of this research study is to demonstrate that individuals with upper limb paralysis due to spinal cord injury, brachial plexus injury, amyotrophic lateral sclerosis and brain stem stroke can successfully achieve direct brain control of assistive devices using an electrocorticography (ECoG)-based brain computer interface system.
The purpose of the study is to assess the safety, tolerability, and effects of L-Arginine on muscles in boys with dystrophinopathy on corticosteroids. Specifically, to see if L-arginine reduces muscle signal abnormalities on MRI done pre and post 30 days of L-arginine administration.
Background: We want to learn more about the relationship between the way families function and how children adapt to having a sibling with Duchenne muscular dystrophy (DMD). What we learn will help us design better interventions for families. Objective: - To learn more about how families with an individual with DMD function. - To learn how siblings adapt in families with an individual with DMD. Eligibility: - One parent and one child, age 13-18, from a family where another child has DMD. - The parent and the child must be able to read and write English. Design: - One parent from each family will complete a survey about how family members communicate and relate with each other. The parent will also answer questions about the behavior of the child without DMD. This survey will take you about 40 minutes to complete. - One child from each family, either a boy or a girl, will also complete a survey. This survey asks about how he/she views him/herself. It also asks about how he/she interacts with peers and family members and how he/she behaves. The survey also asks how satisfied he/she is with how his/her family functions. This survey takes about 30 minutes to finish.
PreU7-53 is a natural history study. The objective is to monitor the clinical and radiological course of upper limb muscle impairment in patients with Duchenne Muscular Dystrophy (DMD), potentially treatable with AAV-mediated exon 53 skipping.
The purpose of this study is to identify potential biomarkers for the diagnosis, disease progression assessment and response to treatment in patients with Duchenne Muscular Dystrophy.
This study, supported by Parent Project Muscular Dystrophy, will determine if tadalafil or sildenafil can improve muscle blood flow during exercise in boys with Duchenne muscular dystrophy.
This study is done to evaluate whether treatment with the drug sildenafil (Revatio®) can improve muscular, cardiac, cerebrovascular or cognitive function in patients with Beckers muscular dystrophy when compared to placebo (inactive medication). The study is based on the recent findings of an improved cardiac function in a mouse model of muscular dystrophy (Adamo et al 2010) and the previous findings of changed cognitive function in people with Becker dystrophy. In muscular dystrophy, the cellular protein, dystrophin is affected. During normal conditions, the enzyme neuronal nitric oxide synthase (nNOS), which produce nitric oxide (NO), is attached to dystrophin. NO is important in normal vascular function in each of muscle, heart and brain by stimulating production of cyclic GMP. However, in muscular dystrophy with dystrophin deficiency, nNOS do not have the normal cellular anchor, resulting in decreased NO levels and subsequent reduced cyclic GMP production. Sildenafil inhibits degradation of cGMP thus prolonging and increasing a cGMP response. Such effects are the basis for use of sildenafil in pulmonary hypertension and erectile dysfunction. Current hypothesis: Sildenafil restores the cyclic GMP function affected in muscular dystrophy wit nNOS deficiency resulting in improved muscle, cardiac, cerebrovascular and cognitive function.
The purpose of this trial is to study the evaluation of clinical safety and feasibility of gene therapy in patients with limb girdle muscular dystrophy type 2C (gamma-sarcoglycanopathy).
Objective of this study is to evaluate safety and tolerability of flavocoxid administered at the daily oral dose of 500 or 1000 mg/die for one year in DMD patients, alone or in association with steroids (deflazacort on alternate days) started at least one year before. The investigators will also perform a multidimensional clinical evaluation covering functional and muscle strength and quality of life (QoL)assessments.