Ignite Creation Date:
2024-05-05 @ 10:22 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001641
Status:
COMPLETED
Last Update Posted:
2008-03-04
First Post:
1999-11-03
Brief Title:
Study of Heritable Connective Tissue 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 Heritable Connective Tissue Disorders
Status:
COMPLETED
Status Verified Date:
2002-06
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:
The purposes of this study are to identify the genes responsible for inherited connective tissue disorders and learn about the range of medical problems they cause It will investigate whether specific gene changes cause specific medical problems and will establish diagnostic criteria signs and symptoms for the individual syndromes
Children and adults with a known or suspected inherited connective tissue disorder Marfan Ehlers-Danlos or Stickler syndrome or other closely related disorders and their family members may be eligible for this study
Patients enrolled in the study will have a medical history physical examination and blood tests as well as other procedures that may include
Echocardiogram ultrasound of the heart
X-rays and other imaging studies such as magnetic resonance imaging MRI or computerized tomography CT scans
Lung function studies
Urine tests
Skin biopsy removal of a small piece of tissue under local anesthetic for microscopic examination
Examination by various specialists eg in ophthalmology gastroenterology rehabilitation medicine as needed
Questionnaires regarding chronic pain and fatigue quality of life and the impact of the connective tissue disorder on the patient and family
Patients who wish to enroll but cannot travel to NIH may have a more limited participation including review of medical records telephone interview regarding personal and family history and collection of a specimen blood skin biopsy or other for genetic testing
Patients will be notified of genetic testing results that show a change responsible for their connective tissue disorder If they wish the information will also be sent to their local health care provider along with recommendations for additional tests or treatment options No treatment is offered as part of this study
Participating family members who do not themselves have a connective tissue disorder will provide a small blood sample for gene testing and be interviewed by telephone about their personal and family health history Those whose blood test results show a gene change associated with a connective tissue disorder will be invited to NIH for a discussion of the findings or referred to a genetic center in their area
Children and adults with a known or suspected inherited connective tissue disorder Marfan Ehlers-Danlos or Stickler syndrome or other closely related disorders and their family members may be eligible for this study
Patients enrolled in the study will have a medical history physical examination and blood tests as well as other procedures that may include
Echocardiogram ultrasound of the heart
X-rays and other imaging studies such as magnetic resonance imaging MRI or computerized tomography CT scans
Lung function studies
Urine tests
Skin biopsy removal of a small piece of tissue under local anesthetic for microscopic examination
Examination by various specialists eg in ophthalmology gastroenterology rehabilitation medicine as needed
Questionnaires regarding chronic pain and fatigue quality of life and the impact of the connective tissue disorder on the patient and family
Patients who wish to enroll but cannot travel to NIH may have a more limited participation including review of medical records telephone interview regarding personal and family history and collection of a specimen blood skin biopsy or other for genetic testing
Patients will be notified of genetic testing results that show a change responsible for their connective tissue disorder If they wish the information will also be sent to their local health care provider along with recommendations for additional tests or treatment options No treatment is offered as part of this study
Participating family members who do not themselves have a connective tissue disorder will provide a small blood sample for gene testing and be interviewed by telephone about their personal and family health history Those whose blood test results show a gene change associated with a connective tissue disorder will be invited to NIH for a discussion of the findings or referred to a genetic center in their area
Detailed Description:
We will investigate the clinical manifestations and molecular genetic defects of heritable connective tissue disorders concentrating on the Marfan Stickler and Ehlers-Danlos syndromes Although each of these conditions has been known for many years the full spectrum of the associated phenotypes continues to be expanded and the genetic etiology of these conditions has not been completely elucidated In addition many patients have features overlapping two or more of the described syndromes precluding unequivocal diagnosis The goals of this study are to further define and characterize the full phenotype and natural history of these disorders and to perform genetic linkage gene identification mutation detection and genotypephenotype correlations in affected individuals and families Individuals suspected to have Marfan Stickler or Ehlers-Danlos syndrome or a closely related disorder as well as interested family members will be enrolled Participants will undergo genetic analyses and periodic clinical assessment The expected outcomes will be improved clinical descriptions of the conditions and gene and mutation identification with analysis of genotypephenotype correlations
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 |
|---|---|---|---|
| 97-HG-0089 | None | None | None |