Protocol Number: 05-HG-0004
Patients with progeria who are between 6 months and 70 years of age and who are able to travel to the NIH in Bethesda, Md., may be eligible for this 5- to 10-year study. Participants come to the NIH Clinical Center for evaluation every 2 years. Each 4-5 day visit includes the following tests and procedures: -Medical history and physical examination -Blood tests to analyze cardiovascular risk factors, blood counts, blood chemistries, and for research -Urine tests for sugar and proteins -Photographs to study growth problems -X-ray studies to determine bone density and body composition, such as body fat and muscle -Electrocardiogram (EKG) and echocardiogram (heart ultrasound) to study the heart and blood vessels -Lung function tests to measure energy consumption and lung capacity -Skin biopsy (surgical removal of a small skin sample) to examine cellular changes -Hearing tests -Eye examination to evaluate eyesight, eye pressure and structures of the eye -Physical therapy evaluation with stretching and exercises to measure how the joints bend and straighten -Dental examination, including X-rays -Meeting with a nutritionist who will track the patient's food intake and take body measurements -Magnetic resonance imaging (MRI) for patients who are old enough to undergo the procedure without sedation. This test uses a magnetic field and radio waves to examine body organs. For this test, the patient must lie still in the scanner, a narrow cylindrical tube. Patients are provided the results of their medical tests. Information about the patient is submitted to the PRF Cell and Tissue Bank in Peabody, Massachusetts.
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