Molecular Analysis of Patients With Neuromuscular Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT00390104
Recruitment Status : Recruiting
First Posted : October 19, 2006
Last Update Posted : July 11, 2017
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Louis Kunkel, Boston Children’s Hospital

October 17, 2006
October 19, 2006
July 11, 2017
January 2002
December 31, 2020   (Final data collection date for primary outcome measure)
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Complete list of historical versions of study NCT00390104 on Archive Site
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Molecular Analysis of Patients With Neuromuscular Disease
Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members
The purpose of this study is to identify genes and proteins responsible for nerve and muscle 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 but have no causative gene implicated in their disease. We feel that these patients may have new genetic changes in genes coding for important muscle proteins that we have yet to identify. Using molecular genetics to unravel the biochemical basis of these neuromuscular disorders should lead to more accurate diagnosis of these disorders and should lead to potential therapies.
We aim to identify and characterize the genetic changes 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; dystrophin, 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 biopsies in patient with known and unknown types of neuromuscular disease has led to new insights into disease pathophysiology which we hope will aid in finding treatments.
Observational Model: Family-Based
Time Perspective: Prospective
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Retention:   Samples With DNA
DNA from blood or saliva and muscle samples from proband DNA from blood or saliva from family members Skin biopsy from proband and family members
Non-Probability Sample
Families will be ascertained world-wide as the muscular dystrophies are a pan-ethinic group of diseases.
  • Limb-girdle Muscular Dystrophy
  • Duchenne Muscular Dystrophy
  • Becker Muscular Dystrophy
  • Facioscapulohumeral Muscular Dystrophy
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*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
December 31, 2021
December 31, 2020   (Final data collection date for primary outcome measure)

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.

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
Sexes Eligible for Study: All
up to 100 Years   (Child, Adult, Senior)
Contact: Elicia A Estrella, MS, LCGC 617-919-4552
Contact: Casie Genetti, MS,LCGC 617-919-2169
United States
5R01NS080929 ( U.S. NIH Grant/Contract )
Not Provided
Plan to Share IPD: Yes
Plan Description: Individual participant data maybe shared with other researchers, but participant samples will be de-identified.
Louis Kunkel, Boston Children’s Hospital
Boston Children’s Hospital
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Louis M Kunkel, PhD Children's Hospital Boston/Harvard Medical School
Boston Children’s Hospital
July 2017