Status:
COMPLETED
Gene First Approach to Connective Tissue Disease
Lead Sponsor:
National Heart, Lung, and Blood Institute (NHLBI)
Conditions:
Abnormal Elastogenesis
Vascular Diseases
Eligibility:
All Genders
2-100 years
Brief Summary
Background: Elastic fibers affect parts of the body that stretch repetitively, such as the skin, blood vessels, and lungs. Researchers want to use medical and research tests in patients with already ...
Detailed Description
Study Description: This protocol will allow deep phenotyping of patients with underlying gene variation in a set of connective tissue genes (see Appendix A for list) to both quantify risk of specific...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- In order to be eligible to participate in this study, an individual must meet all of the following criteria:
- Participant must have a genetic variant in one of the connective tissue target genes identified on previous research or clinical genetic testing. A clinical or research report of the variant in question will be reviewed at the time of referral.
- This variant must be of sufficient interest for focused study to the clinical research team. Interest may be based on a variety of factors including: its population frequency, potential pathogenicity, or apparent genotype/phenotype associations in the medical record, among others.
- Male or female, within the ages of 2 and 100 years old.
- EXCLUSION CRITERIA:
- 1\. Pregnancy or Nursing.
- Rationale for excluding pregnant women
- We do believe that pregnancy likely impacts connective tissue disease and deserves focused study. Unfortunately, we do not believe that our current study design will allow us to attract a large enough number of currently pregnant women to adequately power a direct study into the impacts of connective tissue disease on pregnancy. And the single visit nature of the study precludes following an individual throughout their pregnancy. As such, we have chosen to exclude currently pregnant women from the study. We do, however, welcome their participation once pregnancy is done. We expect that our history taking will include questions about pregnancy and so may still collect historical data related to these variants and pregnancy.
Exclusion
Key Trial Info
Start Date :
April 22 2021
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
August 29 2025
Estimated Enrollment :
32 Patients enrolled
Trial Details
Trial ID
NCT04664478
Start Date
April 22 2021
End Date
August 29 2025
Last Update
September 4 2025
Active Locations (1)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892