Clinical Trial: Heart and Skeletal Muscle Problems in Neuroacanthocytosis

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Characterization of Cardiac and Skeletal Myopathy, Risk Evaluation, and Phenotype-Genotype Correlation in Patients With Neuroacanthocytosis

Brief Summary:

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:

• Electrocardiogram - to measure the electrical function of the heart
• Echocardiogram - uses ultrasound to measure heart thickness and detect heart vessel obstructions
• Cardiac magnetic resonance imaging (MRI) - uses a magnetic field and radio waves to provide pictures of the heart for measurements of muscle thickness and muscle function
• Exercise testing on a stationary bicycle - to measure and record symptoms during exercise, exercise duration, heart rate and blood pressure, oxygen consumption and aerobic threshold
• Holter monitoring - uses a device attached to the chest for continuous recording of heart rhythms
• Blood tests - to look for muscle damage, to exclude other causes of muscle diseas
  

  Detailed Summary: 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.
  Sponsor: National Heart, Lung, and Blood Institute (NHLBI)
  

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  Information By: National Institutes of Health Clinical Center (CC)
  

  Dates:
  Date Received: December 15, 2000
  Date Started: December 2000
  Date Completion: April 2003
  Last Updated: March 3, 2008
  Last Verified: April 2003