Active clinical trials for "Muscular Dystrophies"

This is a Phase 1/2 study of Multiple-Ascending Dose (MAD) levels for 12 weeks of treatment followed by 24 weeks of open-label treatment with a selected dose of NS-050/NCNP-03 administered once weekly to ambulant boys with DMD, who have a DMD mutation amenable to exon 50 skipping.

This is a Phase 2, open-label, multi-center, 2-part study of NS-089/NCNP-02 administered by weekly IV infusion to ambulant boys aged ≥4 to <15 years with DMD due to mutations amenable to exon 44 skipping. Participants will receive a selected dose of NS-089/NCNP-02 administered once weekly. The study consists of 2 parts: Part 1 and Part 2. Six participants (Cohort 1) will participate in both Part 1 and Part 2, and 14 participants (Cohort 2) will be added for Part 2.

Duchenne Muscular Dystrophy is a genetic disease that causes progressive muscle weakness. There is now substantial evidence that boys with this disease do not demonstrate age-related gains in their cognitive skills. The goals of this study are (i) to use a technology-enabled neurobehavioral assessment called National Institutes of Health Toolbox Cognition Battery (NIHTB-CB) to assess brain development over time; (ii) engage with key-stakeholders to understand how neurodevelopmental problems like attention-deficit hyperactivity, autism spectrum affects individuals (and/or) families, so that we can understand meaningful effects of a potential treatment at an individual level, and (iii) to investigate using brain magnetic resonance imaging (MRI) changes in brain connectivity.

Background: - Some nerve and muscle disorders that start early in life (before age 25), like some forms of muscular dystrophy, can run in families. However, the genetic causes of these disorders are not known. Also, doctors do not fully understand how symptoms of these disorders change over time. Researchers want to learn more about genetic nerve and muscle disorders that start in childhood by studying affected people and their family members, as well as healthy volunteers. Objectives: - To better understand nerve and muscle disorders that start early in life and run in families. Eligibility: Individuals at least 4 weeks old with childhood-onset muscular and nerve disorders, including those who have a later onset of a disorder that typically has childhood onset. Affected and unaffected family members of the individuals with muscular and nerve disorders. Healthy volunteers at least 4 weeks old with no nerve or muscle disorders. Design: Participants will be screened with a physical exam and medical history. Genetic information will be collected from blood, saliva, cheek swab, or skin samples. Urine samples may also be collected. Healthy volunteers and unaffected family members will have imaging studies of the muscles. These studies will include magnetic resonance imaging (MRI) and ultrasound scans. Results will be compared with those from the affected participants. All participants with nerve and muscle disorders will have multiple tests, including the following: Imaging studies of the muscles, including ultrasound and MRI scans. Imaging studies of the bones, such as x-rays and DEXA scans. Heart and lung function tests. Eye exams. Nerve and muscle electrical activity tests and biopsies. Video and photo image collection of affected muscles. Speech, language, and swallowing evaluation. Lumbar puncture to collect spinal fluid for study. Tests of movement, attention, thinking, and coordination. Participants with nerve and muscle disorders will return to the Clinical Center every year. They will repeat the tests and studies at these visits....

The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and become a participant, we ask that you register in the CMDIR. You can do this by visiting www.cmdir.org. There is no travel required. The registry includes affected individuals with congenital muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome and registers through the late onset spectrum for these disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual. Registering in the CMDIR means that you will enter demographic information and complete an intake survey. We would then ask that you provide records regarding the diagnosis and treatment of CMD, including genetic testing, muscle biopsy, pulmonary function testing, sleep studies, clinic visit notes, and hospital discharge summaries. Study hypothesis: To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases. To generate congenital muscle disease subtype specific adverse event rates and correlate with key care parameters.

The Global Registry for COL6-related dystrophies (www.collagen6.org) is a database for individuals who have been diagnosed with Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy (UCMD) or an intermediate form of these diseases. The registry team is based at the John Walton Muscular Dystrophy Research Centre at Newcastle University, UK and is part of the TREAT-NMD alliance global network of registries. The registry has been developed in partnership with a number of leading neuromuscular researchers and is funded by the Collagen VI Alliance. This patient registry will: Help identify patients for relevant clinical trials as they become available Encourage further research into Collagen 6-related dystrophies Provide researchers with specific patient information to support their research Assist doctors and other health professionals by providing them with up-to-date information on managing Collagen 6- related dystrophies, to help them deliver better standards of care for their patients The investigators welcome the registration of: ✓ All patients, with a diagnosis of a COL6-related dystrophy (Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy or Intermediate form) , which has been confirmed via genetic testing or muscle biopsy.

The purpose of the study is to investigate the effect of bicycle ergometry training on ventilatory functions in boys with Duchenne muscular dystrophy.

This study was planned to determine the effects of the dual-task performance of children with DMD with motor dysfunction and varying degrees of cognitive impairment compared to their healthy peers, to compare the dual-task performance of children with different functional levels, and to determine the relationship between parameters that may affect dual-task performance.

The primary purpose of the study is to evaluate the safety and tolerability of multiple ascending intravenous (IV) doses of PGN-EDO51 administered to participants with Duchenne muscular dystrophy (DMD). The study consists of 2 periods: A Screening Period (up to 45 days) and a Treatment and Observation Period (16 weeks).

The FOX study is a 2-part, multicenter, Phase 2 study of safety, pharmacokinetics, and biomarkers in children and adolescents with Duchenne muscular dystrophy previously treated with gene therapy including a randomized, double-blind, placebo-controlled Part A, followed by an open-label part B.