Protocol Number: 05-HG-0004

Title:

Clinical Investigations into Hutchison-Gilford Progeria Syndrome

Number:

05-HG-0004

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.

Sponsoring Institute:

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Completed Study; data analyses ongoing

Gender: Male & Female

Referral Letter Required: No

Population Exclusion(s): None

Eligibility Criteria: This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.

Special Instructions:

Currently Not Provided

Keyword(s):

Ageing

Atherosclerosis

Lamin A

Lipodystrophy

Growth Impairment

Premature Aging

Recruitment Keyword(s):

Hutchinson-Gilford Progeria Syndrome

HGPS

Premature Aging

Condition(s):

Progeria

Investigational Drug(s):

None

Investigational Device(s):

None

Interventions:

None

Supporting Site:

National Human Genome Research Institute

Contact(s):

This study is not currently recruiting new subjects. If you have questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.

Citation(s):

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. No abstract available.

Pesce K, Rothe MJ. The premature aging syndromes. Clin Dermatol. 1996 Mar-Apr;14(2):161-70. Review. No abstract available.

Badame AJ. Progeria.Arch Dermatol. 1989 Apr;125(4):540-4. Review.

• Questions about participating in a study, please contact the Patient Recruitment and Public Liaison Office, CC.
• Technical questions regarding the Clinical Center web site, please contact the Department Clinical Research Informatics, CC.

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