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NCT00001641 · ClinicalTrials.gov registry record

Study of Heritable Connective Tissue Disorders

A clinical trial of Ehlers-Danlos Syndrome and Marfan Syndrome, sponsored by National Human Genome Research Institute (NHGRI).

Completed
Registry status
900
Enrollment target
1
Study location

NCT00001641: Completed study of Ehlers-Danlos Syndrome and Marfan Syndrome, sponsored by National Human Genome Research Institute (NHGRI).

NCT00001641 is a study of Ehlers-Danlos Syndrome and Marfan Syndrome that has completed, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 900 participants, above the 392-participant average among 5 other Ehlers-Danlos Syndrome trials with a reported enrollment target (130% higher). The trial reports 1 study location across 1 state. According to ClinicalTrials.gov, the official US trial registry.

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The verdict

NCT00001641, a study of Ehlers-Danlos Syndrome and Marfan Syndrome, has completed, sponsored by National Human Genome Research Institute (NHGRI).

COMPLETED
Registry status
900 participants
Enrollment target
1
Study location

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 a

Conditions Studied

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

Study Locations (1)

Maryland

  • National Human Genome Research Institute (NHGRI) - Bethesda

Trial Details

FieldValue
Enrollment Target 900 participants
Start Date 1997-03
Est. Completion 2002-06
National Human Genome Research Institute (NHGRI)

185 total trials

What the finished NCT00001641 record still lists

NCT00001641 is an observational study that tracks outcomes without assigning an intervention. The registered 900 participants enrollment target is mid-sized for trials with a published cap, above the 392-participant average among 5 other Ehlers-Danlos Syndrome trials with a reported enrollment target (130% higher).

The record links to 5 conditions, with Ehlers-Danlos Syndrome appearing as the primary indexed condition, and to 0 interventions.

NCT00001641 reports a single indexed study location in Maryland.

Frequently Asked Questions

What is clinical trial NCT00001641 about?

NCT00001641 is a clinical study titled "Study of Heritable Connective Tissue Disorders". 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 sym...

What is the current status of trial NCT00001641?

This trial is currently completed. The enrollment target is 900 participants. The study started on 1997-03. Estimated completion is 2002-06.

What conditions does trial NCT00001641 study?

This clinical trial studies the following conditions: Ehlers-Danlos Syndrome, Marfan Syndrome, Connective Tissue Disease, Dissecting Aneurysm, Nail Patella Syndrome.

Who is sponsoring clinical trial NCT00001641?

This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.

Where is trial NCT00001641 being conducted?

This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.

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Related registry views

Source: ClinicalTrials.gov NCT00001641, the US trial registry maintained by the National Library of Medicine. NCT00001641 (mid enrollment · single site footprint · completed) retrieved and formatted by PlainTrial, see methodology.