Active clinical trials for "Muscular Dystrophies"

Duchenne's Muscular Dystrophy and Becker Dystrophy, hereafter DMD and BMD, is a serious and progressive disease that affects 1 in 3,500-6,000 males born alive. Scale 6-minute walking test, is used for determine the inclusion of children with DMD in pharmacological studies. Furthemore, is used to verify a training effectiveness assessing muscular endurance and cardio-respiratory functions. This Research evaluates the feasibility and effectiveness of a multimodal physiotherapist program with virtual reality glasses.

AOC 1001-CS1 is a randomized, double-blind, placebo-controlled, Phase 1/2 study to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of single and multiple-doses of AOC 1001 Administered Intravenously to Adult Myotonic Dystrophy Type 1 (DM1) patients (MARINA). Part A is a single dose design with 1 cohort (dose level). In Part A, the patient duration is 6 months as the treatment period is 1 day followed by a 6 month follow-up period. Part B is a multiple-ascending dose design with 2 cohorts (dose levels). In Part B, the patient duration is 6 months as the treatment period is 3 months followed by a 3 month follow-up period.

The addition of SMA and DMD muscle diseases to newborn screening and premarital carrier screening has been controversial. In this study, researchers aim to measure the awareness level of SMA and DMD muscle diseases of individuals living in Turkey and to obtain information about their attitudes towards newborn and carrier screening and physiotherapy practices. Thus, this study aimed to determine the factors that affect people's views on this subject.

EDG-5506 is an investigational product intended to protect and improve function of dystrophic muscle fibers. This Phase 1 study of EDG-5506 will assess the safety, tolerability, and pharmacokinetics (PK) and of EDG-5506 in adult healthy volunteers and in adults with Becker muscular dystrophy (BMD).

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.

Many individuals with multiple sclerosis (MS), spinal cord injury (SCI), acquired amputation (AMP), muscular dystrophy (MD), and low back pain (LBP) experience pain. There has been little research on how to treat this pain. Different types of treatment that include self-hypnosis, education about chronic pain, and learning skills on how to change how a person thinks about his/her pain have been used to treat chronic pain in the general population. The purpose of this study is to see if these different treatments can help decrease pain in people with multiple sclerosis and spinal cord injury, and determine how and why these treatments are effective. A subject must have a diagnosis of MS,SCI, AMP, MD, or LBP, have chronic pain, and be at least 18 years old to participate.

PDE5A inhibition, which boosts NO-cGMP signaling, will relieve functional muscle ischemia and restore normal blood flow regulation (i.e., functional sympatholysis) during exercise in boys with DMD. The investigators specific aim is to perform an efficient dose-titration study to inform the design of a randomized multicenter trial of PDE5A inhibition for clinical skeletal muscle and cardiac endpoints.

The purpose of this study is to determine the safety of a miniature dystrophin gene in the treatment of progressive muscle weakness due to Duchenne Muscular Dystrophy (DMD).

Limb girdle muscular dystrophy type 2D (LGMD2D) is a genetic disease that affects skeletal muscle. Insufficient levels of the protein alpha-sarcoglycan result in muscle weakness that worsens over time. The purpose of this study is to evaluate the safety and effectiveness of gene therapy in treating children and adults with LGMD2D.

The purpose of this study is investigate the pharmacokinetics, safety and tolerability of single subcutaneous administration of GSK2402968 in non-ambulant boys with Duchenne muscular dystrophy