Understanding gene changes in connective tissue diseases
Natural History Study: Gene First Approach to Connective Tissue Disease
This study is trying to see how changes in certain genes related to connective tissue affect the health of people aged 2 to 100 who have already had genetic testing.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 150 (estimated) |
| Ages | 2 Years to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT04664478 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the impact of genetic variations in connective tissue genes on overall health. Participants, aged 2 to 100, who have previously undergone genetic testing identifying changes in specific genes related to elastic fibers will undergo a series of medical tests at the NIH. The study will focus on deep phenotyping to quantify disease risks and describe novel phenotypes associated with these genetic variations. Researchers will analyze the correlation between different gene variants and specific health outcomes.
Who should consider this trial
Good fit: Ideal candidates are individuals aged 2-100 with identified genetic variants in connective tissue genes such as ELN, LOX, MFAP4, FBLN5, and EFEMP2.
Not a fit: Patients who are pregnant or nursing will not benefit from this study due to the exclusion criteria.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of connective tissue diseases, enhancing patient care.
How similar studies have performed: While the approach of deep phenotyping in relation to genetic variations is promising, it is relatively novel and has not been extensively tested in similar studies.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Manfred Boehm, M.D. — National Heart, Lung, and Blood Institute (NHLBI)
- Study coordinator: Teresa R Luperchio
- Email: teresa.luperchio@nih.gov
- Phone: (240) 550-4039
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.