Phenotype/Genotype Correlations in Neuromuscular Disorders

June 30, 2017 updated by: National Institute of Neurological Disorders and Stroke (NINDS)

Phenotype/Genotype Correlations in Inherited Myopathies

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.

Study Overview

Status

Completed

Conditions

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.

Study Type

Observational

Enrollment

1000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institutes of Health Clinical Center, 9000 Rockville Pike

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Institute of Neurological Disorders and Stroke (NINDS)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

June 1, 2001

Study Completion

May 10, 2007

Study Registration Dates

First Submitted

June 8, 2001

First Submitted That Met QC Criteria

June 8, 2001

First Posted (Estimate)

June 11, 2001

Study Record Updates

Last Update Posted (Actual)

July 2, 2017

Last Update Submitted That Met QC Criteria

June 30, 2017

Last Verified

May 10, 2007

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 010187
  • 01-N-0187

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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