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Molecular Analysis of Patients With Neuromuscular Disease

This study is currently recruiting participants.
See Contacts and Locations
Verified July 2017 by Louis Kunkel, Boston Children's Hospital
Sponsor:
Collaborator:
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Louis Kunkel, Boston Children's Hospital
ClinicalTrials.gov Identifier:
NCT00390104
First received: October 17, 2006
Last updated: July 6, 2017
Last verified: July 2017
  Purpose
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.

Condition
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 Louis Kunkel, 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 Skin biopsy from proband and family members

Estimated Enrollment: 1000
Actual Study Start Date: January 2002
Estimated Study Completion Date: December 31, 2021
Estimated Primary Completion Date: December 31, 2020 (Final data collection date for primary outcome measure)
Detailed Description:
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.
  Eligibility

Ages Eligible for Study:   up to 100 Years   (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.
Criteria

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
  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 ClinicalTrials.gov identifier: NCT00390104

Contacts
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

Locations
United States, Massachusetts
Children's Hospital Boston 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)
Investigators
Principal Investigator: Louis M Kunkel, PhD Children's Hospital Boston/Harvard Medical School
  More Information

Additional Information:
Publications:
Study Data/Documents: Kunkel lab newsletters  This link exits the ClinicalTrials.gov site

Responsible Party: Louis Kunkel, Professor of Genetics and Pediatrics, Harvard Medical School, Boston Children's Hospital
ClinicalTrials.gov Identifier: NCT00390104     History of Changes
Other Study ID Numbers: 03-12-205
5R01NS080929 ( U.S. NIH Grant/Contract )
Study First Received: October 17, 2006
Last Updated: July 6, 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Individual participant data maybe shared with other researchers, but participant samples will be de-identified.

Keywords provided by Louis Kunkel, Boston Children's Hospital:
Neuromuscular Disease
Muscle weakness
Muscle atrophy

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophy, Duchenne
Neuromuscular Diseases
Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophies, Limb-Girdle
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked

ClinicalTrials.gov processed this record on August 16, 2017