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Study of Clinical and Molecular Manifestations of Genetic Disorders

NCT00001466 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 1200

Last updated 2008-03-04

No results posted yet for this study

Summary

This study will investigate the cause and natural history (medical problems that appear over time) of certain genetic disorders. It will also try to locate the abnormal genes responsible for these conditions and eventually develop tests to predict who is likely to be affected and to what degree.

Patients with known or suspected genetic disorders in certain categories, such as those involving chromosomal or metabolic abnormalities, immune system or blood disorders, abnormal growth, benign tumors, and others may be eligible for this study. Participants will be interviewed by specialists in genetics about their condition and family history. They may also be asked to have a physical examination and certain tests needed for study of the specific individual's condition. These may include collection of blood samples (up to 3 tablespoons); imaging studies, such as computerized tomography (CT), magnetic resonance imaging (MRI), ultrasound and echocardiography; skin biopsy (removal of a small sample of skin tissue under local anesthetic), and other procedures. DNA testing may reveal the genetic abnormality responsible for the disorder. Participants who so wish will have an opportunity to talk with experts about the health implications of the test results.

This study may provide information that will lead to improved treatment or management of these inherited disorders, as well as more effective genetic counseling for families.

Conditions

  • Hereditary Diseases

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
1994-10-31
Completion
2000-10-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00001466 on ClinicalTrials.gov