Clinical Studies of Progeria

NCT00094393 | Completed

• 2 other identifiers: 05000405-HG-0004
• Study Type: observational
• Target: 15
• Locations: 1 country
• Sites: 1

Brief 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

Keywords

Ageing; Atherosclerosis; Lamin A; Lipodystrophy; Growth Impairment; Premature Aging; Hutchinson-Gilford Progeria Syndrome; HGPS

Eligibility Criteria

• Age: 6 Months - 70 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• An individual in whom a clinical diagnosis of HGPS has been
• verified by Dr. Gordon will be eligible for this protocol.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (4)

• DeBusk FL. The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature. J Pediatr. 1972 Apr;80(4):697-724. doi: 10.1016/s0022-3476(72)80229-4. No abstract available.

  PMID: 4552697 BACKGROUND

• Pesce K, Rothe MJ. The premature aging syndromes. Clin Dermatol. 1996 Mar-Apr;14(2):161-70. doi: 10.1016/0738-081x(95)00151-5. No abstract available.

  PMID: 9117983 BACKGROUND

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

  PMID: 2649013 BACKGROUND

• Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO 3rd, Gahl WA, Introne WJ. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med. 2008 Feb 7;358(6):592-604. doi: 10.1056/NEJMoa0706898.

  PMID: 18256394 DERIVED

MeSH Terms

Conditions

Progeria; Atherosclerosis; Autosomal Emery-Dreifuss Muscular Dystrophy; Lipodystrophy; Aging, Premature

Condition Hierarchy (Ancestors)

Laminopathies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Arteriosclerosis; Arterial Occlusive Diseases; Vascular Diseases; Cardiovascular Diseases; Muscular Dystrophy, Emery-Dreifuss; Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Skin Diseases, Metabolic; Skin Diseases; Skin and Connective Tissue Diseases; Lipid Metabolism Disorders; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• William A Gahl, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 16, 2004
• First Posted: October 18, 2004
• Study Start: October 14, 2004
• Study Completion: May 22, 2018
• Last Updated: November 15, 2019

Record last verified: 2018-05-22

Locations

US (1)