Study of Clinical and Molecular Manifestations of Genetic Disorders

March 3, 2008 updated by: National Human Genome Research Institute (NHGRI)

Clinical and Molecular Manifestations of Six Categories of Genetic Disorders

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.

Study Overview

Status

Completed

Conditions

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.

Study Type

Observational

Enrollment

1200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • National Human Genome Research Institute (NHGRI)

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Hereditary connective tissue disorders;

Phacomatoses;

Chromosomal disorders;

Dysmorphic syndromes;

Neuromuscular or neurological disorders;

Inherited immunological and hematologic disorders.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Human Genome Research Institute (NHGRI)

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

October 1, 1994

Study Completion

October 1, 2000

Study Registration Dates

First Submitted

November 3, 1999

First Submitted That Met QC Criteria

December 9, 2002

First Posted (Estimate)

December 10, 2002

Study Record Updates

Last Update Posted (Estimate)

March 4, 2008

Last Update Submitted That Met QC Criteria

March 3, 2008

Last Verified

September 1, 1999

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 950010
  • 95-HG-0010

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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