Comparing direct and indirect methods for screening family members at risk for genetic conditions
Comparing Direct and Indirect Methods for Cascade Screening in Familial Hypercholesterolemia (FH) and Long QT Syndrome (LQTS)
This study is testing two ways to reach out to family members at risk for Long QT Syndrome and Familial Hypercholesterolemia to see which method helps them get screened better, while also offering free genetic testing and counseling.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 200 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | University of Maryland, Baltimore Academic / other |
| Locations | 1 site (Lancaster, Pennsylvania) |
| Trial ID | NCT05348564 on ClinicalTrials.gov |
What this trial studies
This study evaluates two approaches for cascade screening of family members at risk for Long QT Syndrome and Familial Hypercholesterolemia after identifying probands with specific genetic variants. Participants will be randomized into two groups: one where study staff directly contacts family members and another where probands initiate contact. The study aims to assess the effectiveness of these methods on screening uptake and evaluate mental, physical, and psychosocial outcomes for both probands and their relatives. Additionally, the study will provide free genetic testing and counseling to participating family members.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 18 or older who are carriers of the KCNQ1 Thr224Met or APOB R3527Q variants.
Not a fit: Patients who are not carriers of the specified genetic variants or those who do not have first-degree relatives may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could improve the effectiveness of genetic screening for at-risk family members, leading to earlier diagnosis and management of genetic conditions.
How similar studies have performed: While there have been few rigorous studies on cascade screening in the US, similar approaches have shown promise in other countries, indicating potential for success in this novel setting.
Eligibility criteria
Show full inclusion / exclusion criteria
Proband Inclusion Criteria: * KCNQ1 Thr224Met or APOB R3527Q carrier * 18 years or older Proband Exclusion Criteria: * None Family Inclusion Criteria: * 1st degree relative of a KCNQ1 Thr224Met or APOB Arg3527Gln carrier Family Exclusion Criteria: * None
Where this trial is running
Lancaster, Pennsylvania
- University of Maryland Amish Research Clinic — Lancaster, Pennsylvania, United States (Recruiting)
Study contacts
- Study coordinator: Amber L Beitelshees, PharmD
- Email: abeitels@som.umaryland.edu
- Phone: 410-706-0118
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.