Identifying genes linked to neuromuscular diseases
Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members
This study is trying to find new genes linked to neuromuscular diseases by looking at muscle and skin samples from patients and their families to help improve diagnosis and treatment options.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Ages | 1 Week to 100 Years |
| Sex | All |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT00390104 on ClinicalTrials.gov |
What this trial studies
This observational study aims to discover new genes associated with various neuromuscular disorders, including Duchenne muscular dystrophy, Becker muscular dystrophy, and limb-girdle muscular dystrophy. Researchers will analyze muscle tissue samples from patients diagnosed with these conditions and their family members to enhance understanding of the genetic basis of these diseases. The study seeks to improve diagnostic accuracy and prognostic assessments, potentially leading to new therapeutic options for affected individuals. Participants will also provide skin biopsies for further genetic analysis.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with muscular dystrophy or their first-degree relatives.
Not a fit: Patients without a neuromuscular diagnosis or those unwilling to participate may not benefit from this study.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and new treatment options for patients with neuromuscular diseases.
How similar studies have performed: Previous studies have successfully identified genes linked to neuromuscular diseases, suggesting this approach has potential for meaningful discoveries.
Eligibility criteria
Show full inclusion / exclusion criteria
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. Inclusion criteria: 1. having a clinical and/or pathological diagnosis of a muscular dystrophy 2. being the first degree relative of someone with such a diagnosis 3. having had a muscle biopsy if diagnosed with a neuromuscular disease 4. willingness to provide a skin biopsy for research only Exclusion Criteria: 1. not having a neuromuscular diagnosis in you or a family member 2. not wishing to participate 3. being incapable of giving consent and not having a legal guardian willing or able to do so
Where this trial is running
Boston, Massachusetts
- Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
Study contacts
- Principal investigator: Louis M Kunkel, PhD — Boston Children's Hospital/Harvard Medical School
- Study coordinator: Elicia A Estrella, MS, LCGC
- Email: elicia.estrella@childrens.harvard.edu
- Phone: 617-919-4552
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.