Comparing Direct vs. Indirect Family Contact for Genetic Screening

This study is looking at the best way to help family members get tested for certain genetic conditions like Long QT Syndrome and Familial Hypercholesterolemia. These conditions are linked to specific gene changes (KCNQ1 Thr224Met or APOB R3527Q). If you carry one of these gene changes, you could be eligible. The study compares two ways to reach out to your first-degree relatives (like parents, siblings, or children): either the study team directly contacts them, or you contact them yourself. The main goal is to see which method leads to more family members getting screened. This is an interventional study, meaning you'll be assigned to one of these two groups. The current status of the study is unclear.

Study design
This is an interventional study that will randomly assign 200 participants to either a direct or indirect family contact group. It is not specified if the study is blinded.
What's involved
If you are a proband, you will consent and be randomized. If in the indirect arm, you will contact your family members. If in the direct arm, you will be advised that study staff will contact your family members, and you will also be instructed to contact them prior to the study team. Family members will receive pre-test counseling, free in-home saliva-based genetic testing, and post-test counseling.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint, uptake of cascade screening, will be measured through study completion, which is approximately 4 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT05348564

Comparing Direct vs Indirect Methods for Cascade Screening

Recruiting
NAAges 18+InterventionalScreening
University of Maryland, Baltimore
~200 participants
Updated 2026-04-14 on ClinicalTrials.gov
What's tested:Direct contact of family members for cascade screening of relevant variants

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Uptake of cascade screening among all first-degree relatives
Measured over Through study completion: approximately 4 years
Long QT Syndrome
Familial Hypercholesterolemia
Ethics
Genetic Testing

NCT05348564

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • University of Maryland Amish Research Clinic

    Lancaster, Pennsylvaniastudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

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Eligibility criteria

Inclusion

KCNQ1 Thr224Met or APOB R3527Q carrier
18 years or older
1st degree relative of a KCNQ1 Thr224Met or APOB Arg3527Gln carrier

Exclusion

None
None
  • Uptake of cascade screening among all first-degree relativesThrough study completion: approximately 4 years

    Proportion of first-degree relatives who undergo testing/All eligible first-degree relatives