Genetic Study of Muscle Diseases in Patients and Their Families
Studies genes and muscle tissue in people with muscular dystrophy and their relatives.
Plain-language title generated from the registry record
Registry title: Molecular Analysis of Patients With Neuromuscular Disease
Key facts
- Where
- Boston, United StatesSee the site
Where in United States
- Boston Children's HospitalBoston, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Boston Children's Hospital
- Trial code
- NCT00390104
- Record updated
- 24 April 2023
- Original description
The purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy with no causative gene implicated in their disease. Using molecular genetics to unravel basis of these neuromuscular disorders will lead to more accurate diagnosis/prognosis of these disorders which will lead to potential therapies.Read full original descriptionShow less
Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members
The purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy with no causative gene implicated in their disease. Using molecular genetics to unravel basis of these neuromuscular disorders will lead to more accurate diagnosis/prognosis of these disorders which will lead to potential therapies.
Inclusion: having a clinical and/or pathological diagnosis of a muscular dystrophy; being the first degree relative of someone with such a diagnosis; having had a muscle biopsy if diagnosed with a neuromuscular disease; willingness to provide a skin biopsy for research only.
Exclusion: not having a neuromuscular diagnosis in you or a family member; not wishing to participate; being incapable of giving consent and not having a legal guardian willing or able to do so.
The samples used in this study will be derived from individuals at risk for, or suffering from, neuromuscular disease, generally resulting in clinical weakness of one or more muscle groups and their family members.