Completed
Clinical and Molecular Manifestations of Six Categories of Genetic Disorders
Led by National Human Genome Research Institute (NHGRI) · Updated on 2008-03-04
1200
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Study of Clinical and Molecular Manifestations of Genetic Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
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.
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
Trial Site Locations
Total: 1 location
1
National Human Genome Research Institute (NHGRI)
Bethesda, Maryland, United States, 20892
Status Unknown
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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