Progeria Clinical Trial
Official title:
Clinical Investigations Into Hutchison-Gilford Progeria Syndrome
Verified date | May 22, 2018 |
Source | National Institutes of Health Clinical Center (CC) |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Observational |
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.
Status | Completed |
Enrollment | 15 |
Est. completion date | May 22, 2018 |
Est. primary completion date | |
Accepts healthy volunteers | No |
Gender | All |
Age group | 6 Months to 70 Years |
Eligibility |
- INCLUSION CRITERIA: - Inclusion criteria consist of male and female children of all ethnic groups with the diagnosis of HGPS. - An individual in whom a clinical diagnosis of HGPS has been verified by Dr. Gordon will be eligible for this protocol. EXCLUSION CRITERIA: - Exclusion criteria consist of patients below 6 months and over 70 years of age. Another exclusion is the inability to travel to the NIH due to advanced cardiovascular disease, as reflected by unstable angina, congestive heart failure, or other serious symptoms. |
Country | Name | City | State |
---|---|---|---|
United States | National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda | Maryland |
Lead Sponsor | Collaborator |
---|---|
National Human Genome Research Institute (NHGRI) |
United States,
Badame AJ. Progeria. Arch Dermatol. 1989 Apr;125(4):540-4. Review. — View Citation
DeBusk FL. The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature. J Pediatr. 1972 Apr;80(4):697-724. Review. — View Citation
Pesce K, Rothe MJ. The premature aging syndromes. Clin Dermatol. 1996 Mar-Apr;14(2):161-70. Review. — View Citation
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