Phenotype/Genotype Correlations in Neuromuscular Disorders
|First Submitted Date||June 8, 2001|
|First Posted Date||June 11, 2001|
|Last Update Posted Date||July 2, 2017|
|Start Date||June 1, 2001|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures||Not Provided|
|Original Primary Outcome Measures||Not Provided|
|Change History||Complete list of historical versions of study NCT00017745 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures||Not Provided|
|Original Secondary Outcome Measures||Not Provided|
|Current Other Outcome Measures||Not Provided|
|Original Other Outcome Measures||Not Provided|
|Brief Title||Phenotype/Genotype Correlations in Neuromuscular Disorders|
|Official Title||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.
|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 Design||Not Provided|
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Study Groups/Cohorts||Not Provided|
|Publications *||Sivakumar K, Cervenáková 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.|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Estimated Completion Date||May 10, 2007|
|Primary Completion Date||Not Provided|
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.
People with no known or suspected inherited myopathies or neuropathies.
|Ages||Child, Adult, Senior|
|Accepts Healthy Volunteers||No|
|Contacts||Contact information is only displayed when the study is recruiting subjects|
|Listed Location Countries||United States|
|Removed Location Countries|
|Other Study ID Numbers||010187
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||Not Provided|
|IPD Sharing Statement||Not Provided|
|Responsible Party||Not Provided|
|Study Sponsor||National Institute of Neurological Disorders and Stroke (NINDS)|
|PRS Account||National Institutes of Health Clinical Center (CC)|
|Verification Date||May 10, 2007|