Gene First Approach to Connective Tissue Disease

Launched by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI) · Dec 10, 2020

Keywords

ClinConnect Summary

This clinical trial, titled "Gene First Approach to Connective Tissue Disease," aims to better understand how changes in certain connective tissue genes affect people's health. The focus is on conditions related to elastic fibers, which are important for parts of the body that stretch, like the skin, blood vessels, and lungs. Researchers are looking for participants aged 2 to 100 who have previously been identified with specific gene changes that impact elastic fibers, particularly those involving genes like ELN, LOX, MFAP4, FBLN5, and EFEMP2.

Participants in the trial will visit the National Institutes of Health (NIH) for 3 to 5 days, where they will undergo a series of tests and evaluations to help researchers understand the relationship between these gene changes and health. This may include medical history reviews, physical exams, and optional tests like blood and urine samples, imaging scans, and lung function tests. Each participant's tests will be tailored to their specific gene changes, and they will be examined by a team of experts in connective tissue diseases. While pregnant or nursing individuals cannot participate, those who have completed their pregnancy are welcome to join.

Gender

ALL

Eligibility criteria

• * INCLUSION CRITERIA:
• In order to be eligible to participate in this study, an individual must meet all of the following criteria:
• • 1. 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.
• • 2. 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.
• • 3. 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.