Ignite Creation Date:
2024-05-05 @ 9:53 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001466
Status:
COMPLETED
Last Update Posted:
2008-03-04
First Post:
1999-11-03
Brief Title:
Study of Clinical and Molecular Manifestations of Genetic Disorders
Sponsor:
National Human Genome Research Institute NHGRI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Clinical and Molecular Manifestations of Six Categories of Genetic Disorders
Status:
COMPLETED
Status Verified Date:
1999-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 individuals 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
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 individuals 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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 95-HG-0010 | None | None | None |