View clinical trials related to Muscular Dystrophies.
Filter by:An investigation of disease progression in adult danish patients with facioscapulohumeral muscular dystrophy. The disease progression is followed for a year with two test-days, including functional muscle tests and a MRI scan of muscles in the back and legs.
The investigators want to investigate if patients with Oculopharyngeal Muscular Dystrophy can improve fitness by home-training on a cycle ergometer 30 minute, 3 times a week for 10 weeks. Participants will be evaluated on maximal oxygen consumption and maximal workload measured by an incremental test at baseline and at the end of the exercise period.
Background: - Neuromuscular diseases (NMDs) do not have cures. But future treatments will try to improve the health-related quality of life (HRQoL) in people with NMD. Computer questionnaires can help test HRQoL in people with NMD. They could help clinicians and researchers know how people with NMD and their caregivers are doing. They could also help show if treatments are making a difference. Researchers want to make sure two of these questionnaires PROMIS (Patient Reported Outcomes Measurement Information System) and Neuro-QOL (Quality of Life in Neurological Disorders) work the same way every time. They also want to make sure the questionnaires test the same things every time. Objective: - To make sure the PROMIS and Neuro-QOL questionnaires are valid. Eligibility: - Children age 8 17 who have NMD. Also, caregivers of children age 5 17 who have NMD. Design: - Participants will complete the PROMIS and Neuro-QOL questionnaires on a computer. The caregiver and child versions are not the same. - Participants will complete the questionnaires at the beginning of the study. It will take about 15 20 minutes. They will complete the questionnaires again after 2 4 weeks. They may receive phone or email reminders. - Participants will complete the questionnaires at the NIH outpatient clinic and/or on their own device. At NIH, they will use a computer or tablet.
This study is intended to build on a growing body of literature showing a blood flow abnormality in patients with Becker muscular dystrophy. The investigators' laboratory recently showed that this blood flow abnormality could be corrected by a single oral dose of the drug Tadalafil (also known as Cialis). The investigators now wish to replicate these exciting results using a common nitric oxide donor (sodium nitrate).
Our aim is to establish multi-center national Egyptian database of information for inherited and acquired neuromuscular diseases in infants and children from 0 to 18 years of age.
Duchenne muscular dystrophy (DMD) , caused by mutations in the DMD gene, is the most common and most severe progressive dystrophy of the child. Although the development is rapidly progressive , there is variability in the severity of the disease between DMD patients that do not correlate with the type of mutations in the DMD gene. There are no easily measurable biomarkers for monitoring the DMD or moderate form of the disease, Becker muscular dystrophy (BMD ) . MicroRNAs (miRNAs) are involved in most cellular processes , and their expression pattern is a signature of the state of a cell . They represent a potential class of diagnostic and prognostic biomarkers. Some are specific for the skeletal myogenesis , and changes in their pattern of expression are associated with muscle diseases including muscular dystrophy. The levels of muscle- specific miRNAs are indeed greatly increased in the serum of DMD and BMD compared to control patients . The main objective of this is to validate the use of serum muscle-derived microRNAs as biomarkers of DMD patients (compared with healthy subjects). Secondary objectives are i) to investigate the relationship between circulating levels of these miRNAs and the severity of the dystrophinopathy (DMD vs BMD) and also the progression of the disease (longitudinal study), ii) to assess the specificity of these markers for dystrophinopathy (comparison with other patients with muscular dystrophy), iii) to test candidate miRNAs recently identified but not yet analyzed in the serum of patients. Clinical data and samples will be recorded at each regular consultation. miRNA levels will be quantified using Real Time Quantitative RT-PCR.
This study is utilizing ultrasound measurement to measure neuromuscular disease status in adult patients. The hypothesis is the by quantifying ultrasound data, it is possible that ultrasound can be utilized as a tool to determine if a disease is responding to therapy or progressing.
The primary objective of this study is to obtain long term safety data of ataluren in male participants with nonsense mutation dystrophinopathy (who participated and completed a previous Phase 3 study of ataluren [PTC124-GD-020-DMD {NCT01826487}]) to augment the overall safety database. Screening and baseline procedures are structured to avoid a gap in treatment between the double-blind study (PTC124-GD-020-DMD) and this extension study. This study may be further extended by amendment until either ataluren becomes commercially available or the clinical development of ataluren in duchenne muscular dystrophy (DMD) is discontinued.
This study is designed to assess the safety, tolerability, efficacy and pharmacokinetics (PK) of NS-065/NCNP-01 in subjects diagnosed with Duchenne muscular dystrophy (DMD).
The Duchenne Registry is an online, patient-report registry for individuals with Duchenne and Becker muscular dystrophy and carrier females. The purpose of the Registry is to connect Duchenne and Becker patients with actively recruiting clinical trials and research studies, and to educate patients and families about Duchenne and Becker care and research. At the same time, The Duchenne Registry is a valuable resource for clinicians and researchers in academia and industry, allowing access to de-identified datasets provided by patients and their families-information that is vital to advances in the care and treatment of Duchenne. The Duchenne Registry is a member of the TREAT-NMD Neuromuscular Network.