NCT00001466

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1,200

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Oct 1994

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

October 1, 1994

Completed
5.1 years until next milestone

First Submitted

Initial submission to the registry

November 3, 1999

Completed
11 months until next milestone

Study Completion

Last participant's last visit for all outcomes

October 1, 2000

Completed
2.2 years until next milestone

First Posted

Study publicly available on registry

December 10, 2002

Completed
Last Updated

March 4, 2008

Status Verified

September 1, 1999

First QC Date

November 3, 1999

Last Update Submit

March 3, 2008

Conditions

Hereditary Diseases

Keywords

Clinical GeneticsEtiologyMedical ScreeningPrognosisGenetic Disorders

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
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.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

Study Sites (1)

National Human Genome Research Institute (NHGRI)

Bethesda, Maryland, 20892, United States

Location

MeSH Terms

Conditions

Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Design

Study Type
observational
Sponsor Type
NIH

Study Record Dates

First Submitted

November 3, 1999

First Posted

December 10, 2002

Study Start

October 1, 1994

Study Completion

October 1, 2000

Last Updated

March 4, 2008

Record last verified: 1999-09

Locations

US(1)