Comparing direct and indirect methods for screening family members at risk for genetic conditions

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.