Recruiting

Observational Study

Sponsor:

Boston Children's Hospital

Code:

NCT00390104

Conditions

Neuromuscular; Disorder, Hereditary

Duchenne/Becker Muscular Dystrophy

Limb-girdle Muscular Dystrophy

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief summary:

The purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy with no causative gene implicated in their disease. Using molecular genetics to unravel basis of these neuromuscular disorders will lead to more accurate diagnosis/prognosis of these disorders which will lead to potential therapies.

Conditions

Neuromuscular; Disorder, Hereditary

Duchenne/Becker Muscular Dystrophy

Limb-girdle Muscular Dystrophy

Study ID

NCT00390104

Start date

Jan, 2002

Status verified date

Apr, 2023

Completion date

Dec 31, 2027

Anticipated

Primary completion date

Dec 31, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Central Contacts and Locations

Central contacts

Elicia A Estrella, MS, LCGC

617-919-4552elicia.estrella@childrens.harvard.edu

Casie Genetti, MS,LCGC

617-919-2169Casie.Genetti@childrens.harvard.edu

Locations

Boston Children's Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Elicia A Estrella, MS, LCGC

617-919-4552elicia.estrella@childrens.harvard.edu

Casie Genetti, MS, LCGC

617-919-2169Casie.Genetti@childrens.harvard.edu

Principal Investigator:

Louis M Kunkel, PhD

More Information

Sponsor

Boston Children's Hospital

Last update posted

Apr 24, 2023

Last verified

Apr, 2023

Keywords

  • Neuromuscular Disease
  • Muscle weakness
  • Muscle atrophy

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Boston Children's Hospital on 2023-04-24.