NCT00272883 Molecular and Genetic Studies of Congenital Myopathies
| NCT ID | NCT00272883 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Boston Children's Hospital |
| Condition | Central Core Disease |
| Study Type | OBSERVATIONAL |
| Enrollment | 4,000 participants |
| Start Date | 2003-08 |
| Primary Completion | 2050-01 |
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 4,000 participants in total. It began in 2003-08 with a primary completion date of 2050-01.
⚠ 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
In the Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School, the researchers are studying the congenital myopathies (neuromuscular diseases present from birth), including central core disease, centronuclear/myotubular myopathy, congenital fiber type disproportion, multiminicore disease, nemaline myopathy, rigid spine muscular dystrophy, SELENON (SEPN1), RYR1 myopathy, ADSS1 (ADSSL) Myopathy and undefined congenital myopathies. The primary goal of the research is to better understand the genes and proteins (gene products) involved in muscle functioning and disease. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with congenital myopathies in the future. For more information, visit the Laboratory Website at www.childrenshospital.org/research/beggs
Eligibility Criteria
Inclusion Criteria: * Individuals with a clinical or suspected diagnosis of a congenital myopathy and their family members Exclusion Criteria: * No specific exclusion criteria. Our studies do not include myotonia congenita or related conditions.
Contact & Investigator
Alan H. Beggs, Ph.D.
PRINCIPAL INVESTIGATOR
Children's Hospital Boston/Harvard Medical School
Frequently Asked Questions
Who can join the NCT00272883 clinical trial?
This trial is open to participants of all sexes, studying Central Core Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT00272883 currently recruiting?
Yes, NCT00272883 is actively recruiting participants. Contact the research team at BeggsLabGC@childrens.harvard.edu for enrollment information.
Where is the NCT00272883 trial being conducted?
This trial is being conducted at Boston, United States.
Who is sponsoring the NCT00272883 clinical trial?
NCT00272883 is sponsored by Boston Children's Hospital. The principal investigator is Alan H. Beggs, Ph.D. at Children's Hospital Boston/Harvard Medical School. The trial plans to enroll 4,000 participants.