NCT00001871|Completed
Study of Muscle Abnormalities in Patients With Specific Genetic Mutations
An Exploratory Study of Skeletal Muscle Abnormalities in Patients With Mutations in Alpha-Tropomyosin and PABP2 Genes
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An Exploratory Study of Skeletal Muscle Abnormalities in Patients With Mutations in Alpha-Tropomyosin and PABP2 Genes
Sponsor study identifier
Secondary identifiers
observational
80
1 country
1
Study Start
January 1999
Date type not reportedThis date has not been verified as actual or estimated.
Primary Completion
Not reported
Date not reportedStudy Completion
March 2001
Date type not reportedThis date has not been verified as actual or estimated.
Hypertrophic cardiomyopathy (HCM) is a genetically inherited disease affecting the heart. It causes thickening of heart muscle, especially the chamber responsible for pumping blood out of the heart, the left ventricle. This condition can cause patients to experience symptoms of chest pain, shortness of breath, fatigue, and heart beat palpitations. Researchers believe the disease may be caused by abnormalities in the genes responsible for producing proteins of the heart muscle. Oculopharyngeal muscular dystrophy (OPMD) is another genetically inherited disease. This condition affects the muscles of the eyes and throat causing symptoms of weak eye movements, difficulty swallowing and speaking, and weakness of the arms and legs. In previous studies researchers have found that several patients with hypertrophic cardiomyopathy (HCM) also had oculopharyngeal muscular dystrophy (OPMD). Researchers are interested in learning more about how these two diseases are associated with each other. In this study, researcher plan to collect samples of muscles (skeletal muscle biopsies) from patients belonging to families in which several members have inherited one or both of these diseases. The muscle samples will be used to link the muscle abnormalities with the specific genetic mutations. Patients participating in this study may not be directly benefited by it. However, information gathered because of this study may be used to develop better techniques for diagnosing and treating these conditions.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
March 2001
Date type not reportedThis date has not been verified as actual or estimated.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
January 1999
Date type not reportedThis date has not been verified as actual or estimated.
November 3, 1999
Actual (reported)March 2001
Date type not reportedThis date has not been verified as actual or estimated.
December 10, 2002
Actual (reported)Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.
National Heart, Lung and Blood Institute (NHLBI)
Bethesda, Maryland, 20892, United States
Wigle ED, Rakowski H, Kimball BP, Williams WG. Hypertrophic cardiomyopathy. Clinical spectrum and treatment. Circulation. 1995 Oct 1;92(7):1680-92. doi: 10.1161/01.cir.92.7.1680.
Jarcho JA, McKenna W, Pare JA, Solomon SD, Holcombe RF, Dickie S, Levi T, Donis-Keller H, Seidman JG, Seidman CE. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med. 1989 Nov 16;321(20):1372-8. doi: 10.1056/NEJM198911163212005.
First Submitted
November 3, 1999
First Posted
December 10, 2002
Study Start
January 1999
Date type not reportedThis date has not been verified as actual or estimated.
Study Completion
March 2001
Date type not reportedThis date has not been verified as actual or estimated.
Screening for Inherited Heart Disease
Carrier L, Hengstenberg C, Beckmann JS, Guicheney P, Dufour C, Bercovici J, Dausse E, Berebbi-Bertrand I, Wisnewsky C, Pulvenis D, et al. Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11. Nat Genet. 1993 Jul;4(3):311-3. doi: 10.1038/ng0793-311.
Last Updated
March 4, 2008
Record last verified: 1999-12
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