KCNQ1 Cascade Screening

Not Applicable

Terminated

• Conditions: Long QT Syndrome
• Interventions: Genetic: Simplified Cascade Screening

• Registration Number: NCT03783975
• Lead Sponsor: University of Maryland, Baltimore

Brief 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2018-12-18
• Study First Submitted QC: 2018-12-20
• Study First Posted: 2018-12-21
• Study Start: 2019-03-07
• Primary Completion: 2021-04-27
• Results First Submitted: 2022-07-19
• Results First Submitted QC: 2022-09-30
• Results First Posted: 2022-10-26
• Study Completion: 2022-12-29
• Status Verified: 2023-06
• Last Update Submitted: 2023-06-02
• Last Update Posted: 2023-06-27

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 131

Inclusion Criteria

• KCNQ1Thr224Met proband or first degree family member

Exclusion Criteria

• Family members who have not been contacted by probands

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Simplified Cascade Screening	Simplified Cascade Screening	Free, mail-in, saliva-based screening for the KCNQ1 Thr224Met variant.

Primary Outcome Measures

Name	Time	Method
Percentage of At-risk Family Members Who Underwent Cascade Screening	18 months	Rate of uptake of cascade screening after the intervention ('simplified')

Secondary Outcome Measures

Name	Time	Method
Extent of Disclosure Determined by Questionnaire	18 months	proportion of family members told after the intervention ('simplified')
Number of Informed Relatives Screened Determined by Questionnaire	18 months	Number of informed family members tested after the intervention ('simplified')
Number of Participants With an Uptake of Preventative Therapy as Determined by Questionnaire	18 months	Uptake of preventative therapy was defined as those taking a beta-blocker if recommended or those who implemented lifestyle modifications if beta-blocker not recommended. The survey was mailed to all probands.

Trial Locations

Locations (1)

University of Maryland Amish Research Clinic; 🇺🇸 Lancaster, Pennsylvania, United States