- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00001871
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
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.
Study Overview
Status
Detailed Description
Study Type
Enrollment
Contacts and Locations
Study Locations
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Maryland
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Bethesda, Maryland, United States, 20892
- National Heart, Lung and Blood Institute (NHLBI)
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
Genders Eligible for Study
Description
Patients will be of either gender, aged 10-80 years old, in whom alpha-tropomyosin and PABP2 genotypes have been determined under protocols 87-H-0057 and 98-H-0100.
No bleeding diathesis.
Negative urine test for pregnancy.
No skin infection at site of biopsy.
Study Plan
How is the study designed?
Collaborators and Investigators
Publications and helpful links
General Publications
- 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.
- 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.
Study record dates
Study Major Dates
Study Start
Primary Completion
Study Completion
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Heart Diseases
- Cardiovascular Diseases
- Nervous System Diseases
- Genetic Diseases, Inborn
- Musculoskeletal Diseases
- Muscular Diseases
- Neuromuscular Diseases
- Pathological Conditions, Anatomical
- Aortic Valve Disease
- Heart Valve Diseases
- Muscular Disorders, Atrophic
- Aortic Stenosis, Subvalvular
- Aortic Valve Stenosis
- Muscular Dystrophies
- Hypertrophy
- Cardiomyopathies
- Cardiomyopathy, Hypertrophic
- Muscular Dystrophy, Oculopharyngeal
Other Study ID Numbers
- 990036
- 99-H-0036
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
product manufactured in and exported from the U.S.
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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