Studies of Heritable Disorders of Connective Tissue
Public ClinicalTrials.gov record NCT00270686. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
Clinical and Molecular Manifestations of Heritable Disorders of Connective Tissue
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
Background: \- Heritable disorders of connective tissue are genetic conditions that can affect the skin and other parts of the body. They are related to mutations in genes that are responsible for building tissues. The symptoms differ among disorders. Researchers want to study which genes may be responsible for different disorders. They will be performing a long-term (up to 10 years) study and a study that requires a single visit. These studies will look at how these disorders affect the body and what genes may cause these conditions. Objectives: \- To perform one-time and long-term studies of people who have heritable disorders of connective tissue. Eligibility: \- Individuals at least 2 years of age who have or may have a heritable disorder of connective tissue. Design: * Participants will be screened with a physical exam, medical history, and blood samples. * Participants will be on one of two parts of this study. The longitudinal arm will require long-term study over about 10 years. The mutational analysis arm will involve a single visit. * Longitudinal arm participants must be at least 12 years of age. They will have study visits at regular intervals for up to 10 years. The tests given at these visits may include all or some of the following: * Blood, saliva, urine, and skin samples * Heart and lung function tests * Magnetic resonance imaging scans of the neck, chest, spine, and abdomen * Other imaging studies such as x-rays, bone density scans, and ultrasounds * Questionnaires about sleep, pain, and quality of life * Photographs of affected areas. * Mutational analysis arm participants will have a single study visit. They will provide blood and saliva samples. They will provide tissue from a skin biopsy. They will also let the researchers take photos of any affected body parts. They will complete questionnaires about sleep, pain, and quality of life.
Study identification
- NCT ID
- NCT00270686
- Recruitment status
- Completed
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 929 participants
Conditions and interventions
Interventions
Not listed
Eligibility (public fields only)
- Age range
- 2 Years and older
- Sex
- All
- Healthy volunteers
- Accepts healthy volunteers
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Jan 20, 2003
- Primary completion
- Not listed
- Completion
- Jan 1, 2015
- Last update posted
- Apr 4, 2018
2003 – 2015
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| National Institute of Aging, Clinical Research Unit | Baltimore | Maryland | 21224 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
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About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT00270686, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Apr 4, 2018 · Synced Sep 7, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT00270686 live on ClinicalTrials.gov.