Gene hunt for rare muscle diseases could unlock future treatments
NCT ID NCT00272883
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 2 times
Summary
This research study at Boston Children's Hospital is looking at the genes and proteins involved in congenital myopathies—rare muscle diseases that are present from birth. Researchers will analyze DNA from up to 4,000 participants, including patients and their family members, to find new disease-causing genes. The goal is to improve diagnosis and, eventually, develop better treatments for these conditions.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
What this could lead to
If successful, this research could lead to better genetic tests and pave the way for future treatments for congenital myopathies.
What could go wrong
This is an observational study, not a treatment trial. It may take many years before findings translate into therapies, and not all genetic discoveries will lead to effective treatments.
Disclaimer
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This is a summary of
the original study
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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Study contacts
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Contact
Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Genetics Division, Boston Children's Hospital
RECRUITINGBoston, Massachusetts, 02115, United States
Contact
Contact Phone: •••-•••-•••• Email: •••••@•••••