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NCT00007228 · ClinicalTrials.gov registry record
Heart and Skeletal Muscle Problems in Neuroacanthocytosis
A clinical trial, sponsored by National Heart, Lung, and Blood Institute (NHLBI).
- Completed
- Registry status
- 120
- Enrollment target
NCT00007228 is a clinical trial that has completed, run by National Heart, Lung, and Blood Institute (NHLBI). The registered enrollment target is 120 participants.
The verdict
NCT00007228 has completed, sponsored by National Heart, Lung, and Blood Institute (NHLBI).
- COMPLETED
- Registry status
- 120 participants
- Enrollment target
Study 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 disease, and to perform DNA (genetic) testing * Neurological consultation - to test muscle function, coordination and tests of certain brain functions such as memory and concentration 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
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 120 participants |
| Start Date | 2000-12 |
| Est. Completion | 2003-04 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00007228
The ClinicalTrials.gov registry entry for NCT00007228 describes a study currently listed as completed, categorized as an unspecified phase. The registered enrollment target is 120 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Heart, Lung, and Blood Institute (NHLBI), which has 501 total studies on file at ClinicalTrials.gov.
The record links to 0 conditions, and to 0 interventions.
NCT00007228 reports 0 study locations.
Frequently Asked Questions
What is clinical trial NCT00007228 about?
NCT00007228 is a clinical study titled "Heart and Skeletal Muscle Problems in Neuroacanthocytosis". 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 unusua...
What is the current status of trial NCT00007228?
This trial is currently completed. The enrollment target is 120 participants. The study started on 2000-12. Estimated completion is 2003-04.
Who is sponsoring clinical trial NCT00007228?
This trial is sponsored by National Heart, Lung, and Blood Institute (NHLBI), which has 501 total clinical trials registered on ClinicalTrials.gov.
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