Study of Heritable Connective Tissue Disorders
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|ClinicalTrials.gov Identifier: NCT00001641|
Recruitment Status : Completed
First Posted : November 4, 1999
Last Update Posted : March 4, 2008
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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 (e.g., 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.
|Condition or disease|
|Connective Tissue Disease Dissecting Aneurysm Ehlers Danlos Syndrome Marfan Syndrome Nail Patella Syndrome|
|Study Type :||Observational|
|Enrollment :||900 participants|
|Official Title:||Clinical and Molecular Manifestations of Heritable Connective Tissue Disorders|
|Study Start Date :||March 1997|
|Study Completion Date :||June 2002|
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
|Ages Eligible for Study:||Child, Adult, Older Adult|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||Yes|
Individuals and their family members will be offered enrollment if they have a suspected or established diagnosis of Marfan, Stickler, Ehlers-Danlos, or a closely related syndrome.
Personal or family history of one or more of the following features in a pattern suggestive of a heritable connective tissue disorder:
Marfanoid body habitus;
Aortic dilatation and/or dissection;
Ectopia lentis, detached retina, vitreous degeneration and/or early onset high myopia;
Posterior cleft palate; joint laxity and/or dislocation;
Skin fragility, striae, easy bruisability and/or hyperextensibility;
Pectus excavatum or carinatum;
Scoliosis, spondylolisthesis, and/or dural ectasia;
High frequency sensorineural hearing loss.
Inability to provide informed consent.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001641
|United States, Maryland|
|National Human Genome Research Institute (NHGRI)|
|Bethesda, Maryland, United States, 20892|
|Other Study ID Numbers:||
|First Posted:||November 4, 1999 Key Record Dates|
|Last Update Posted:||March 4, 2008|
|Last Verified:||June 2002|
Connective Tissue Disorders
Connective Tissue Diseases
Skin Diseases, Genetic
Genetic Diseases, Inborn
Bone Diseases, Developmental
Heart Defects, Congenital
Limb Deformities, Congenital