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Study of Heritable Connective Tissue Disorders
NCT00001641 · View on ClinicalTrials.gov ↗
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
Study Locations (1)
Maryland
- National Human Genome Research Institute (NHGRI) — Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 900 participants |
| Start Date | 1997-03 |
| Est. Completion | 2002-06 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00001641
The ClinicalTrials.gov registry entry for NCT00001641 describes a study currently listed as completed. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 900 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Human Genome Research Institute (NHGRI), which has 242 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 5 conditions, with Marfan Syndrome appearing as the primary indexed condition, and to 0 interventions. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT00001641 reports 1 study location spanning 1 distinct geographic area — top geographies include Maryland. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
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: Marfan Syndrome, Connective Tissue Disease, Ehlers Danlos Syndrome, Dissecting Aneurysm, Nail Patella Syndrome. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT00001641?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 242 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
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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