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Molecular Analysis of Patients With Neuromuscular Disease

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified July 2011 by Boston Children’s Hospital.
Recruitment status was:  Recruiting
National Institutes of Health (NIH)
Information provided by:
Boston Children’s Hospital Identifier:
First received: October 17, 2006
Last updated: July 21, 2011
Last verified: July 2011
The purpose of this study is to identify genes and proteins responsible for specific 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 and Becker muscular dystrophy DMD/BMD, 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.

Limb-girdle Muscular Dystrophy Duchenne Muscular Dystrophy Becker Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members

Resource links provided by NLM:

Further study details as provided by Boston Children’s Hospital:

Biospecimen Retention:   Samples With DNA
DNA from blood or saliva and muscle samples from proband/ DNA from blood or saliva from family members

Estimated Enrollment: 500
Study Start Date: January 2002
Estimated Study Completion Date: January 2015
Detailed Description:

Our research has many goals, one of which is to characterize the genetic changes responsible for the type of muscle disease found in our participants. In our past research, several new genes responsible for various forms of neuromuscular disease were identified and/or are being studied. These include 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 has led to new insights into disease pathophysiology which we hope will aid in finding treatments.

Our research also studies gene expression in muscle biopsy samples. This entails identifying the genes whose expression is increased or decreased in the muscles of individuals with different muscular dystrophy types. We believe these studies will identify genes and gene pathways which are common to the pathogenesis of muscular dystrophy or which are unique to a particular dystrophy. Our microarray research should lead to a better understanding of the disease process and possible ways to halt the process. The end point of these studies would be an accurate description of the disease pathogenesis.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
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.

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

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00390104

Contact: Elicia A Estrella, M.S., C.G.C. 617-919-4552
Contact: Elizabeth DeChene, M.S., C.G.C. 617-919-2169

United States, Massachusetts
Children's Hospital Boston Recruiting
Boston, Massachusetts, United States, 02115
Contact: Elicia A Estrella, M.S., C.G.C.    617-919-4552   
Contact: Liz DeChene, MS, CGC    617-919-2169   
Principal Investigator: Louis M Kunkel, PhD         
Sponsors and Collaborators
Boston Children’s Hospital
National Institutes of Health (NIH)
Principal Investigator: Louis M Kunkel, PhD Children's Hospital Boston/Harvard Medical School
  More Information

Responsible Party: Dr. Louis Kunkel, Children's Hospital, Boston Identifier: NCT00390104     History of Changes
Other Study ID Numbers: 03-12-205
1P01NS040828-01 ( US NIH Grant/Contract Award Number )
Study First Received: October 17, 2006
Last Updated: July 21, 2011

Keywords provided by Boston Children’s Hospital:
Neuromuscular Disease
Muscle weakness
Muscle atrophy

Additional relevant MeSH terms:
Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophies
Muscular Dystrophy, Duchenne
Neuromuscular Diseases
Muscular Dystrophies, Limb-Girdle
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked processed this record on June 23, 2017