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Molecular Analysis of Patients With Neuromuscular Disease

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ClinicalTrials.gov Identifier: NCT00390104
Recruitment Status : Recruiting
First Posted : October 19, 2006
Last Update Posted : April 9, 2021
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Louis Kunkel, Boston Children's Hospital

Brief Summary:
The purpose of this study is to identify genes and proteins responsible for neuromuscular disorders by studying genetic material from individuals with 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 the biochemical basis of these neuromuscular disorders will lead to more accurate diagnosis/prognosis of these disorders which will lead to potential therapies.

Condition or disease
Limb-girdle Muscular Dystrophy Duchenne Muscular Dystrophy Becker Muscular Dystrophy Neuromuscular; Disorder, Hereditary

Detailed Description:
We are looking to discover new disease genes responsible for the neuromuscular diseases found in our participants and their families. Our research lab has a long history of identifying novel genes responsible for various forms of neuromuscular disease including; DMD gene, the sarcoglycans, obscurin, and filamin. Each discovery has resulted in advances in our ability to develop diagnostic tests which benefit patients and their families by providing accurate diagnosis, presymptomatic and/or prenatal testing. Genotype-phenotype correlation studies have increased our understanding of the natural history of these rare disorders benefiting patients through better prognostic determinations by clinicians. Biochemical and pathological analysis of muscle biopsy samples in patients with known and unknown types of neuromuscular disease has led to new insights into disease pathophysiology, which we hope will aid in finding new treatments.

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Study Type : Observational
Estimated Enrollment : 1000 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members
Actual Study Start Date : January 2002
Estimated Primary Completion Date : December 31, 2025
Estimated Study Completion Date : December 31, 2026

Biospecimen Retention:   Samples With DNA
DNA from blood or saliva from proband, Muscle tissue from proband, DNA from blood or saliva from family members, Skin biopsy from proband and family members

Information from the National Library of Medicine

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Ages Eligible for Study:   1 Week to 100 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Families will be ascertained world-wide as the muscular dystrophies are a pan-ethinic group of diseases.

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 such a diagnosis and not being related to such an individual
  2. not wishing to participate
  3. being incapable of giving consent and not having a legal guardian willing or able to do so

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00390104

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Contact: Elicia A Estrella, MS, LCGC 617-919-4552 elicia.estrella@childrens.harvard.edu
Contact: Casie Genetti, MS,LCGC 617-919-2169 Casie.Genetti@childrens.harvard.edu

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United States, Massachusetts
Boston Children's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Elicia A Estrella, MS, LCGC    617-919-4552    elicia.estrella@childrens.harvard.edu   
Contact: Casie Genetti, MS, LCGC    617-919-2169    Casie.Genetti@childrens.harvard.edu   
Principal Investigator: Louis M Kunkel, PhD         
Sponsors and Collaborators
Boston Children's Hospital
National Institute of Neurological Disorders and Stroke (NINDS)
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Principal Investigator: Louis M Kunkel, PhD Boston Children's Hospital/Harvard Medical School
Publications of Results:
Other Publications:
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Responsible Party: Louis Kunkel, Professor of Genetics and Pediatrics, Harvard Medical School, Boston Children's Hospital
ClinicalTrials.gov Identifier: NCT00390104    
Other Study ID Numbers: 03-12-205
5R01NS080929 ( U.S. NIH Grant/Contract )
First Posted: October 19, 2006    Key Record Dates
Last Update Posted: April 9, 2021
Last Verified: April 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Individual participant data will be de-identified to protect privacy, but maybe shared with other researchers.
Supporting Materials: Study Protocol
Analytic Code
Time Frame: Once a participant is enrolled, we will keep the data indefinitely.
Access Criteria: Data will only be shared with collaborating scientists once a patient enrolls. Data will be shared according to choice on individual consent forms.

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Louis Kunkel, Boston Children's Hospital:
Neuromuscular Disease
Muscle weakness
Muscle atrophy
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Dystrophies, Limb-Girdle
Neuromuscular Diseases
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked