Study of Clinical and Molecular Manifestations of Genetic Disorders
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|ClinicalTrials.gov Identifier: NCT00001466|
Recruitment Status : Completed
First Posted : December 10, 2002
Last Update Posted : March 4, 2008
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.
|Condition or disease|
|Study Type :||Observational|
|Estimated Enrollment :||1200 participants|
|Official Title:||Clinical and Molecular Manifestations of Six Categories of Genetic Disorders|
|Study Start Date :||October 1994|
|Estimated Study Completion Date :||October 2000|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001466
|United States, Maryland|
|National Human Genome Research Institute (NHGRI)|
|Bethesda, Maryland, United States, 20892|