NCT00390104 Molecular Analysis of Patients With Neuromuscular Disease
| NCT ID | NCT00390104 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Boston Children's Hospital |
| Condition | Neuromuscular; Disorder, Hereditary |
| Study Type | OBSERVATIONAL |
| Enrollment | 1,000 participants |
| Start Date | 2002-01 |
| Primary Completion | 2026-12-31 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 1,000 participants in total. It began in 2002-01 with a primary completion date of 2026-12-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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.
Eligibility 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
Contact & Investigator
Louis M Kunkel, PhD
PRINCIPAL INVESTIGATOR
Boston Children's Hospital/Harvard Medical School
Frequently Asked Questions
Who can join the NCT00390104 clinical trial?
This trial is open to participants of all sexes, aged 1 Week or older, up to 100 Years, studying Neuromuscular; Disorder, Hereditary. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT00390104 currently recruiting?
Yes, NCT00390104 is actively recruiting participants. Contact the research team at elicia.estrella@childrens.harvard.edu for enrollment information.
Where is the NCT00390104 trial being conducted?
This trial is being conducted at Boston, United States.
Who is sponsoring the NCT00390104 clinical trial?
NCT00390104 is sponsored by Boston Children's Hospital. The principal investigator is Louis M Kunkel, PhD at Boston Children's Hospital/Harvard Medical School. The trial plans to enroll 1,000 participants.