Molecular Analysis of Patients With Neuromuscular Disease

Plain-language summary

This study examines the genetic and molecular causes of disease in individuals with neuromuscular disease, meaning disorders of the muscles and nerves. People diagnosed with muscular dystrophy and their first-degree relatives are able to take part. Sponsored by Boston Children's Hospital, this observational study has no assigned phase and is still enrolling participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

Boston Children's Hospital

Start date

1/1/2002

Estimated completion

12/31/2027

Countries

United States

Related genes

Locations

• Boston, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

The samples used in this study will be derived from individuals at risk for, or suffering from, neuromuscular disease, generally resulting in clinical weakness of one or more muscle groups and their family members.

Inclusion criteria:

1. having a clinical and/or pathological diagnosis of a muscular dystrophy
2. being the first degree relative of someone with such a diagnosis
3. having had a muscle biopsy if diagnosed with a neuromuscular disease
4. willingness to provide a skin biopsy for research only

Exclusion Criteria:

1. not having a neuromuscular diagnosis in you or a family member
2. not wishing to participate
3. being incapable of giving consent and not having a legal guardian willing or able to do so