Clinical Trial: Clinical Studies of Progeria

Study Status: Completed
Recruit Status: Completed
Study Type: Observational



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
  • P