Clinical Studies of Progeria
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ClinicalTrials.gov Identifier: NCT00094393 |
Recruitment Status :
Completed
First Posted : October 18, 2004
Last Update Posted : November 15, 2019
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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.
Condition or disease |
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Progeria |
Study Type : | Observational |
Actual Enrollment : | 15 participants |
Observational Model: | Case-Only |
Time Perspective: | Retrospective |
Official Title: | Clinical Investigations Into Hutchison-Gilford Progeria Syndrome |
Study Start Date : | October 14, 2004 |
Study Completion Date : | May 22, 2018 |


Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | 6 Months to 70 Years (Child, Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
- 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.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00094393
United States, Maryland | |
National Institutes of Health Clinical Center, 9000 Rockville Pike | |
Bethesda, Maryland, United States, 20892 |
Principal Investigator: | William A Gahl, M.D. | National Human Genome Research Institute (NHGRI) |
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: | National Human Genome Research Institute (NHGRI) |
ClinicalTrials.gov Identifier: | NCT00094393 |
Other Study ID Numbers: |
050004 05-HG-0004 |
First Posted: | October 18, 2004 Key Record Dates |
Last Update Posted: | November 15, 2019 |
Last Verified: | May 22, 2018 |
Ageing Atherosclerosis Lamin A Lipodystrophy |
Growth Impairment Premature Aging Hutchinson-Gilford Progeria Syndrome HGPS |
Progeria Laminopathies Genetic Diseases, Inborn Metabolism, Inborn Errors Metabolic Diseases |