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Study of Clinical and Molecular Manifestations of Genetic Disorders

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00001466
Recruitment Status : Completed
First Posted : December 10, 2002
Last Update Posted : March 4, 2008
Information provided by:
National Institutes of Health Clinical Center (CC)

Brief 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.

Condition or disease
Hereditary Diseases

Detailed Description:
Individuals and their families affected by disorders with a potentially genetic basis within six broad categories will be evaluated over time to characterize the natural and clinical history of various specific disorders. Medical and laboratory evaluations will be completed to identify areas of management concern that have not been previously described. Further protocols will be developed addressing specific disorders once a number of affected individuals have been investigated and is sufficient to query various aspects of those disorders. Issues for both diagnosis and medical management of those affected with certain genetic disorders will be collated and addressed within a national consensus conference format. In addition, phenotype to genotype correlation will be established to further understanding of specific molecular alterations on phenotypic expression. This broad-based protocol will also facilitate the training of fellows in medical genetics, graduate and post graduate training in genetics and genetic counseling.

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Study Type : Observational
Enrollment : 1200 participants
Official Title: Clinical and Molecular Manifestations of Six Categories of Genetic Disorders
Study Start Date : October 1994
Study Completion Date : October 2000

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

Patients and their families with known or suspected genetic disorders within the following categories will be recruited:

Hereditary connective tissue disorders;


Chromosomal disorders;

Dysmorphic syndromes;

Neuromuscular or neurological disorders;

Inherited immunological and hematologic disorders.

Information from the National Library of Medicine

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 identifier (NCT number): NCT00001466

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United States, Maryland
National Human Genome Research Institute (NHGRI)
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Human Genome Research Institute (NHGRI)

Layout table for additonal information Identifier: NCT00001466     History of Changes
Other Study ID Numbers: 950010
First Posted: December 10, 2002    Key Record Dates
Last Update Posted: March 4, 2008
Last Verified: September 1999
Keywords provided by National Institutes of Health Clinical Center (CC):
Clinical Genetics
Medical Screening
Genetic Disorders
Additional relevant MeSH terms:
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Genetic Diseases, Inborn