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Trial record 3 of 9 for:    progeria

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
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )

Tracking Information
First Submitted Date October 16, 2004
First Posted Date October 18, 2004
Last Update Posted Date November 15, 2019
Study Start Date October 14, 2004
Primary Completion Date Not Provided
Current Primary Outcome Measures Not Provided
Original Primary Outcome Measures Not Provided
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Clinical Studies of Progeria
Official Title Clinical Investigations Into Hutchison-Gilford Progeria Syndrome
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.

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
Study Design Observational Model: Case-Only
Time Perspective: Retrospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
Sampling Method Not Provided
Study Population Not Provided
Condition Progeria
Intervention Not Provided
Study Groups/Cohorts Not Provided
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: November 25, 2009)
15
Original Enrollment
 (submitted: June 23, 2005)
50
Study Completion Date May 22, 2018
Primary Completion Date Not Provided
Eligibility Criteria
  • 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.

Sex/Gender
Sexes Eligible for Study: All
Ages 6 Months to 70 Years   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT00094393
Other Study ID Numbers 050004
05-HG-0004
Has Data Monitoring Committee Not Provided
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party National Institutes of Health Clinical Center (CC) ( National Human Genome Research Institute (NHGRI) )
Study Sponsor National Human Genome Research Institute (NHGRI)
Collaborators Not Provided
Investigators
Principal Investigator: William A Gahl, M.D. National Human Genome Research Institute (NHGRI)
PRS Account National Institutes of Health Clinical Center (CC)
Verification Date May 22, 2018