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KCNQ1 Cascade Screening

NCT03783975 · Status: TERMINATED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 131

Last updated 2023-06-27

Study results available
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Summary

The objectives of the protocol are to: (1) evaluate the uptake of cascade screening and preventative therapies after the implementation of a simplified screening process and (2) assess proband and family member perspectives about the return of research results and cascade screening for the KCNQ1 Thr224Met variant. The investigators will conduct a mixed methods study in the Old Order Amish community where the KCNQ1 variant is enriched over 100,000-fold compared to other populations. The intervention will offer free, mail-in, saliva-based genetic testing for family members of probands. The rate of uptake of testing and preventative therapy after the intervention is implemented (i.e. when 'simplified' free, mail-in, saliva-based testing was available) will be compared to data from before the intervention (i.e. when 'traditional' $50 blood-based testing was available to family members) when uptake was essentially zero. The primary outcome is the rate of uptake of cascade screening with the intervention ('simplified'). The secondary outcomes include: extent of disclosure of genotype results before and after the intervention, proportion of informed relatives who get screened before and after the intervention, and the uptake of appropriate preventative care (e.g. seeing a cardiologist and/or taking beta-blocker). The tertiary outcomes are demographic characteristics associated with uptake of cascade screening or uptake of preventative therapy. The investigators will also assess qualitative themes surrounding the return of results process and cascade screening using interviews.

Conditions

  • Long QT Syndrome

Interventions

GENETIC

Simplified Cascade Screening

Screening of the KCNQ1 Thr224Met variant for family members of probands

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    collaborator NIH

  • University of Maryland, Baltimore

    lead OTHER

Study Design

Allocation
NA
Purpose
SCREENING
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2019-03-07
Primary Completion
2021-04-27
Completion
2022-12-29

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03783975 on ClinicalTrials.gov