search
Back to results

Phenotype/Genotype Correlations in Neuromuscular Disorders

Primary Purpose

Neuromuscular Disease

Status
Completed
Phase
Locations
United States
Study Type
Observational
Intervention
Sponsored by
National Institute of Neurological Disorders and Stroke (NINDS)
About
Eligibility
Locations
Outcomes
Full info

About this trial

This is an observational trial for Neuromuscular Disease focused on measuring DNA, Hereditary Myopathies, Intermediate Filaments, Cardiomyopathies, Genetic Testing, Myopathy, Inherited Neuromuscular Disorder

Eligibility Criteria

undefined - undefined (Child, Adult, Older Adult)All SexesDoes not accept healthy volunteers

INCLUSION CRITERIA: Patients of all ages with known or suspected inherited myopathies or neuropathies or neuropathies and their families will be considered as potential candidates for the study. Pregnant women will be included. Family members of studied patients who express interest in participating will be also accepted. Willingness and legal ability to give and sign informed study consent. Willingness to travel to the Clinical Center for evaluation if necessary. Willingness to submit tissue for testing this may include muscle, nerve and peripheral blood. EXCLUSION CRITERIA: People with no known or suspected inherited myopathies or neuropathies.

Sites / Locations

  • National Institutes of Health Clinical Center, 9000 Rockville Pike

Outcomes

Primary Outcome Measures

Secondary Outcome Measures

Full Information

First Posted
June 8, 2001
Last Updated
June 30, 2017
Sponsor
National Institute of Neurological Disorders and Stroke (NINDS)
search

1. Study Identification

Unique Protocol Identification Number
NCT00017745
Brief Title
Phenotype/Genotype Correlations in Neuromuscular Disorders
Official Title
Phenotype/Genotype Correlations in Inherited Myopathies
Study Type
Observational

2. Study Status

Record Verification Date
May 10, 2007
Overall Recruitment Status
Completed
Study Start Date
June 1, 2001 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
May 10, 2007 (undefined)

3. Sponsor/Collaborators

Name of the Sponsor
National Institute of Neurological Disorders and Stroke (NINDS)

4. Oversight

5. Study Description

Brief Summary
The Neuromuscular Diseases Section (NDS) is conducting research on certain inherited myopathies and neuropathies, disorders that lead to disability and sometimes death. NDS, along with other groups, has identified some disease-causing genes. The National Institutes of Health Clinical Center proposes new research to identify additional hereditary neuromuscular diseases and conduct genetic studies in order to localize, clone, and characterize the diseases. An expected 50 patients with known or suspected inherited myopathy or neuropathy and their families will be recruited for this study. If travel to the Clinical Center is impossible, investigators may come to them to do the tests. Ten to twenty cubic centimeters of blood will be drawn for DNA extraction and genotyping. Some abnormal movements of muscle atrophy will be documented by videotaping. If necessary, diagnostic laboratory and radiographic studies will be done to confirm diagnosis. Because the diseases are hereditary, blood may also be drawn from family members. The family will be counseled and the participants invited back annually to investigate the progression of the disease. Each participant will be evaluated by a history and initial neurological exam. Up to another 20 mL of blood will be drawn for routine blood studies. Other medical care procedures may include a chest x-ray, EKG and echocardiogram, CT (computed tomography) or MRI (magnetic resonance imaging) scan, pulmonary function tests, and physical therapy assessment. Possible research procedures may include MR spectroscopy, nerve conduction study, electromyography, muscle or nerve biopsy, and lumbar puncture. The researchers have decided not to inform the family if nonpaternity or adoption is discovered by the DNA genotyping. Also, because a carrier of the disease gene may not necessarily develop the disease, family members will not be informed if they are carriers.
Detailed Description
The goal of this protocol is to identify families with inherited neuromuscular disorders, evaluate disease manifestations to establish an accurate clinical diagnosis by using newest technological advances and investigate the underlying molecular mechanisms. Studies of inherited myopathies in large families with good genealogical records are especially valuable. Patients with diseases of known molecular basis will be genotyped to conduct analysis of phenotype/genotype correlation. Patients with diseases of unknown or incomplete genetic characterization will be studied with a hope of contributing to the identification of specific disease-causing genes and to genetic mechanisms responsible for a specific disorder.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Neuromuscular Disease
Keywords
DNA, Hereditary Myopathies, Intermediate Filaments, Cardiomyopathies, Genetic Testing, Myopathy, Inherited Neuromuscular Disorder

7. Study Design

Enrollment
1000 (false)

10. Eligibility

Sex
All
Accepts Healthy Volunteers
No
Eligibility Criteria
INCLUSION CRITERIA: Patients of all ages with known or suspected inherited myopathies or neuropathies or neuropathies and their families will be considered as potential candidates for the study. Pregnant women will be included. Family members of studied patients who express interest in participating will be also accepted. Willingness and legal ability to give and sign informed study consent. Willingness to travel to the Clinical Center for evaluation if necessary. Willingness to submit tissue for testing this may include muscle, nerve and peripheral blood. EXCLUSION CRITERIA: People with no known or suspected inherited myopathies or neuropathies.
Facility Information:
Facility Name
National Institutes of Health Clinical Center, 9000 Rockville Pike
City
Bethesda
State/Province
Maryland
ZIP/Postal Code
20892
Country
United States

12. IPD Sharing Statement

Citations:
PubMed Identifier
7654077
Citation
Sivakumar K, Cervenakova L, Dalakas MC, Leon-Monzon M, Isaacson SH, Nagle JW, Vasconcelos O, Goldfarb LG. Exons 16 and 17 of the amyloid precursor protein gene in familial inclusion body myopathy. Ann Neurol. 1995 Aug;38(2):267-9. doi: 10.1002/ana.410380222.
Results Reference
background

Learn more about this trial

Phenotype/Genotype Correlations in Neuromuscular Disorders

We'll reach out to this number within 24 hrs