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NCT00272883 · ClinicalTrials.gov registry record
Molecular and Genetic Studies of Congenital Myopathies
A clinical trial of Myotubular Myopathy and Central Core Disease, sponsored by Boston Children's Hospital.
- Recruiting
- Registry status
- 4,000
- Enrollment target
- 1
- Study location
NCT00272883: Recruiting study of Myotubular Myopathy and Central Core Disease, sponsored by Boston Children's Hospital.
NCT00272883 is a study of Myotubular Myopathy and Central Core Disease that is actively recruiting participants, run by Boston Children's Hospital. The registered enrollment target is 4,000 participants. The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.
The verdict
NCT00272883, a study of Myotubular Myopathy and Central Core Disease, is actively recruiting participants, sponsored by Boston Children's Hospital.
- RECRUITING
- Registry status
- 4,000 participants
- Enrollment target
- 1
- Study location
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
Primary Outcome
This is an ongoing genetic discovery study aimed at finding and confirming pathogenic mutations in known and new disease genes.
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 |
What NCT00272883 shows while recruiting
NCT00272883 is an observational study that tracks outcomes without assigning an intervention. Its 4,000 participants enrollment target places it among the larger protocols in the corpus.
The record links to 8 conditions, with Myotubular Myopathy appearing as the primary indexed condition, and to 0 interventions.
NCT00272883 reports a single indexed study location in Massachusetts.
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.
Who is sponsoring clinical trial NCT00272883?
This trial is sponsored by Boston Children's Hospital, which has 462 total clinical trials registered on ClinicalTrials.gov.
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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