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Study of Heritable Connective Tissue Disorders

NCT00001641 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 900

Last updated 2008-03-04

No results posted yet for this study

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 (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.

Conditions

  • Connective Tissue Disease
  • Dissecting Aneurysm
  • Ehlers Danlos Syndrome
  • Marfan Syndrome
  • Nail Patella Syndrome

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
1997-03-31
Completion
2002-06-30

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00001641 on ClinicalTrials.gov