Clinical Studies of Progeria

November 14, 2019 updated by: National Human Genome Research Institute (NHGRI)

Clinical Investigations Into Hutchison-Gilford Progeria Syndrome

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.

Study Overview

Status

Completed

Conditions

Detailed Description

Hutchison-Gilford Progeria Syndrome (HGPS) is a rare "premature aging" disease in which children die of severe atherosclerosis at an average age of thirteen years (range 8-20 years). Children with HGPS appear healthy at birth, but within months display signs of growth failure, lipodystrophy, hair loss, and aged skin. Within just a few years they exhibit boney abnormalities including osteoporosis and resorption, coax valga and hip dislocation. The final height approximates 3 feet. Mortality is caused by generalized artherosclerosis leading to strokes and heart attacks. The gene defect causing HGPS has recently been identified as a single base mutation in the gene LMNA, coding for the nuclear protein Lamin A. The spectrum of effects of this gene defect on cellular function, and how these effects culminate in the HGPS disease phenotype, remain to be elucidated. Furthermore, no in-patient multisubject clinical evaluation of children with HGPS has ever been performed, and no therapy exists for any of the complications of HGPS. Hence, baseline studies are critical to determine the extent of organ involvement in HGPS, evaluate disease progression, and design clinical trials of potential treatments. The purpose of this study is to longitudinally investigate the disease characteristics of HGPS using state-of the-art measures of cardiovascular function, comprehensive laboratory testing, in vitro cell culture studies, and extensive medical consultations. HGPS patients will be admitted to the NIH Clinical center as inpatients for approximately 5 days every two years. The information emanating from the proposed studies will assist in assuring appropriate care for children with HGPS, provide a better understanding of the variations in phenotype of HGPS, and stimulate new research into HGPS and the aging diseases associated with HGPS, such as atherosclerosis. These studies will also allow us to evaluate new clinical outcome parameters and to design appropriate therapeutic interventions.

Study Type

Observational

Enrollment (Actual)

15

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Institutes of Health Clinical Center, 9000 Rockville Pike

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

6 months to 70 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Retrospective

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Human Genome Research Institute (NHGRI)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

October 14, 2004

Study Completion

May 22, 2018

Study Registration Dates

First Submitted

October 16, 2004

First Submitted That Met QC Criteria

October 16, 2004

First Posted (Estimate)

October 18, 2004

Study Record Updates

Last Update Posted (Actual)

November 15, 2019

Last Update Submitted That Met QC Criteria

November 14, 2019

Last Verified

May 22, 2018

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 050004
  • 05-HG-0004

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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