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Molecular and Genetic Studies of Congenital Myopathies
NCT00272883 · View on ClinicalTrials.gov ↗
Study 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
Conditions Studied
Study Locations (1)
Massachusetts
- Genetics Division, Boston Children's Hospital — Boston
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 4,000 participants |
| Start Date | 2003-08 |
| Est. Completion | 2050-01 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00272883
The ClinicalTrials.gov registry entry for NCT00272883 describes a study currently listed as recruiting. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 4,000 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is Boston Children's Hospital, which has 752 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 8 conditions, with Myotubular Myopathy appearing as the primary indexed condition, and to 0 interventions. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT00272883 reports 1 study location spanning 1 distinct geographic area — top geographies include Massachusetts. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT00272883 about?
NCT00272883 is a clinical study titled "Molecular and Genetic Studies of Congenital Myopathies". 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 dispropor...
What is the current status of trial NCT00272883?
This trial is currently recruiting. The enrollment target is 4,000 participants. The study started on 2003-08. Estimated completion is 2050-01.
What conditions does trial NCT00272883 study?
This clinical trial studies the following conditions: Myotubular Myopathy, Central Core Disease, Centronuclear Myopathy, Congenital Fiber Type Disproportion, Multiminicore Disease. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT00272883?
This trial is sponsored by Boston Children's Hospital, which has 752 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT00272883 being conducted?
This trial has 1 study location across Massachusetts. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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