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Home > "P" Clinical Trials Conditions > Phenotype/Genotype Correlations in Neuromuscular Disorders  Phenotype/Genotype Correlations in Neuromuscular Disorders
Phenotype/Genotype Correlations in Neuromuscular Disorders
For Condition: Neuromuscular Disease
Status: Recruiting
Sponsor(s): National Institute of Neurological Disorders and Stroke (NINDS) ,
Synopsis: 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.
Details: 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 myopathies 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.
Eligibility:
Study Type: Observational, Natural History
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry Criteria: INCLUSION CRITERIA: Patients of all ages will be considered for the study. Subjects will be recruited by the Principal investigator and his associates using direct contacts with referring physicians, advertisements in regional, national and international neurology, neuromuscular, and genetics publications, professional associations, and by mailings to the Directors of Neurology and Clinical Genetics centers. The referring medical care provider will be asked if the family is willing to be contacted by the Principal investigator or his associates, who will then contact the family by telephone. Medical records that support the diagnosis will be requested and evaluated by the Principal investigator and his associates to determine if the diagnostic criteria are fulfilled. No procedures or evaluations will be performed before the receipt of written informed consent. The general health of a potential participant must be sufficient to allow for travel to the NIH, performing a muscle biopsy (when indicated), blood drawing, and obtaining pulmonary and cardiac evaluations. Patients will be enrolled without regard to race, age, sex, creed, color, religion, or national origin. Some patients or their family members may choose not to travel to the NIH for the clinical component, but are willing to participate in the registry and tissue analysis aspects of this research project. The Principal investigator and his associates will consider appropriateness for inclusion of these individuals in the protocol after medical record review and consultation with referring health care providers. Each potential participant will be mailed a copy of the Informed Consent for review and consideration. A telephone call will be made by the Principal investigator or his associate to more carefully discuss the protocol and answer questions. Other elements of genetic counseling will be conducted by the local services under the guidance from the Principal investigator and his associates. Furthermore, field evaluations may be considered when subjects have limitations preventing their travel.
Total Enrollment: 150
Location and Contact Information:
National Institute of Neurological Disorders and Stroke (NINDS) *Recruiting*
Bethesda, Maryland, 20892
United States
Recruiting Patient and Public Liaison Office 1-800-411-1222
Additional Information:
Study ID Numbers: 010187; 01-N-0187
Study Start Date: June 1, 2001
Record last reviewed: July 2, 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00017745
Other Neuromuscular Disease Studies:
1. Phenotype/Genotype Correlations in Neuromuscular Disorders
2. Electromyography to Diagnose Neuromuscular Disorders
3. Diagnostic Evaluation of Patients with Neuromuscular Disease
4. Evaluation of Neuromuscular Disease
Related Studies:
Other Neuromuscular Disease Clinical Trials
Other Maryland Clinical Trials
Other Bethesda Clinical Trials
Phenotype/Genotype Correlations in Neuromuscular Disorders
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