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Clinical Studies of Progeria

NCT00094393 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 15

Last updated 2019-11-15

No results posted yet for this study

Summary

This study will examine children with Hutchinson-Gilford Progeria syndrome, a genetic disease that causes many changes to the body over time, including heart disease, bone changes, hair loss, and joint and skin changes. Often called a "premature aging" disease, progeria does not mimic aging completely. This study will examine which body systems are affected in progeria and how each system is affected over time in order to try to develop new treatments.

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.

Conditions

  • Progeria

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • William A Gahl, M.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
6 Months
Max Age
70 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2004-10-14
Completion
2018-05-22

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00094393 on ClinicalTrials.gov