Research on genetic causes of congenital myopathies

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

The Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School focuses on understanding congenital myopathies, which are neuromuscular diseases present from birth. Researchers are identifying new genes and proteins involved in muscle function and studying genetic mutations that lead to these conditions. The program encourages participation from individuals with congenital myopathies and their families, who contribute medical records and biological samples for analysis. This research aims to improve diagnosis and treatment options for affected individuals in the future.

Why it matters

Who can join: the full rules

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.

Where it's running

• Genetics Division, Boston Children's Hospital
  Boston, Massachusetts, United States Recruiting

Study contacts

• Principal investigator: Alan H. Beggs, Ph.D. — Children's Hospital Boston/Harvard Medical School
• Study coordinator: Casie Genetti, M.S. C.G.C.
• Email: BeggsLabGC@childrens.harvard.edu
• Phone: (617) 919-2169

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Natural history of nemaline myopathy in Spain

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• Multispectral optoacoustic tomography for imaging muscles in centronuclear myopathy

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• Collecting data on muscle disorders using wearable devices

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  Recruiting at 2 sites Centre Hospitalier Universitaire de Liege · Liège and 7 other locations · NCT05982119

• ASP2957 gene therapy for ventilator-dependent boys with X-linked myotubular myopathy

  This trial will try a one-time AAV gene therapy, ASP2957, in infants and young boys with XLMTM who need a ventilator to breathe most of the day.

  Recruiting at 5 sites Phase 1/2 Astellas Pharma Inc · Chicago, Illinois and 4 other locations · NCT07052929

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.