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Sponsored by: |
National Heart, Lung, and Blood Institute (NHLBI) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00007228 |
The purpose of this study is to learn about heart and skeletal muscle problems related to neuroacanthocytosis (also called Mcleod's syndrome and Levine-Critchley disease). This inherited condition causes problems of blood, brain, heart and muscle function. About 60 percent of patients have an unusual heart muscle abnormality that increases the risk of sudden death. Although the molecular (genetic) changes responsible for neuroacanthocytosis have recently been identified, the heart and skeletal muscle problems are not well understood. This study will try to correlate the specific genetic abnormalities with the clinical features of the disease and identify possible causes of sudden death.
Patients and first degree relatives of patients with neuroacanthocytosis 18 years of age or older may be eligible for this study. Participants will be admitted to the National Institutes of Health Clinical Center for 2 to 5 days for the following tests:
Patients with evidence of muscle disease may also undergo a muscle biopsy. This is done under a local anesthetic and possibly small amounts of sedation. A small area of skin over a large arm muscle (biceps) is numbed, a short incision is made and a small sample of muscle tissue is removed for microscopic examination.
Patients with evidence of heart disease may also undergo the following additional tests:
Family members who do not have signs of heart or muscle disease will only undergo non-invasive tests. All participants will be given the results of all tests and treatment options will be discussed.
Condition |
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Choreatic Disorder |
Study Type: | Observational |
Official Title: | Characterization of Cardiac and Skeletal Myopathy, Risk Evaluation, and Phenotype-Genotype Correlation in Patients With Neuroacanthocytosis |
Estimated Enrollment: | 120 |
Study Start Date: | December 2000 |
Estimated Study Completion Date: | April 2003 |
Neuroacanthocyoses (NA) are rare, closely related clinical syndromes characterized by neurological features and erythrocyte acanthocytosis. Most have a skeletal myopathy as indicated by persistently elevated plasma creatinine kinase, and about 60 percent of the patients have an unusual cardiomyopathy with increased risk of sudden death. The molecular causes of the syndromes have very recently been defined. However, cardiac and skeletal muscle involvement and outcomes have been poorly described and causes of sudden death are unknown. We propose to (1) describe the cardiac and skeletal muscle findings of NA and to identify potential mechanisms of sudden death; (2) correlate the molecular causes of NA with its cardiac and skeletal expressions; and (3) define the specific phenotype, if any, associated with the heterozygous state.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
INCLUSION CRITERIA:
Patients of either gender, aged greater than or equal to 18 years, with previously diagnosed NA or with clinical features consistent with that diagnosis.
First degree family members of either gender, aged greater than or equal to 18 years, of patients with NA and relatives proven to be heterozygous for the disease genotype.
EXCLUSION CRITERIA:
Positive pregnancy test.
Study ID Numbers: | 010052, 01-H-0052 |
Study First Received: | December 15, 2000 |
Last Updated: | March 3, 2008 |
ClinicalTrials.gov Identifier: | NCT00007228 |
Health Authority: | United States: Federal Government |
Chorea DCM Hypertrophic Cardiomyopathy |
Sudden Death Neuroacanthocytosis Hypertrophic Cardiomyopathy |
Death Central Nervous System Diseases Cardiomyopathies Dyskinesias Choreoacanthocytosis Chorea Signs and Symptoms Neuroacanthocytosis |
Hypertrophy Heredodegenerative Disorders, Nervous System Muscular Diseases Genetic Diseases, Inborn Movement Disorders Cardiomyopathy, Hypertrophic Death, Sudden Neurologic Manifestations |
Nervous System Diseases |