Identifying genes linked to neuromuscular diseases
Official title: Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members
Run by Boston Children's Hospital · NCT00390104 · Data updated 2026-11-12
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 |
|---|---|
| Ages | 1 Week to 100 Years |
| Sex | All |
| Enrollment | 1000 (estimated) |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Status | Recruiting |
| Started | January 2002 |
| Main results expected | December 31, 2026 |
| Study ends | December 31, 2027 |
| Registry record updated | April 24, 2023 |
| Trial ID | NCT00390104 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals diagnosed with muscular dystrophy or their first-degree relatives.
✕Probably not a fit
Patients without a neuromuscular diagnosis or those unwilling to participate may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: Previous studies have successfully identified genes linked to neuromuscular diseases, suggesting this approach has potential for meaningful discoveries.
Who can join: the full rules
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 it's running
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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
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.