Ignite Creation Date:
2024-05-05 @ 11:38 AM
Last Modification Date:
2024-10-26 @ 9:10 AM
Study NCT ID:
NCT00094393
Status:
COMPLETED
Last Update Posted:
2019-11-15
First Post:
2004-10-16
Brief Title:
Clinical Studies of Progeria
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical Investigations Into Hutchison-Gilford Progeria Syndrome
Status:
COMPLETED
Status Verified Date:
2018-05-22
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 patients 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
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 patients 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 05-HG-0004 | None | None | None |