KCNQ1 Cascade Screening

Long QT Syndrome Clinical Trial

Official title:

A Community-Based Approach to Overcoming Barriers to Cascade Screening for Long QT Syndrome

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT03783975
• Other study ID #: HP-00081981
• Secondary ID: R21HG010412
• Status: Terminated
• Phase: N/A
• Start date: March 7, 2019
• Est. completion date: December 29, 2022

Study information

• Verified date: June 2023
• Source: University of Maryland, Baltimore
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 131
• Est. completion date: December 29, 2022
• Est. primary completion date: April 27, 2021
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• KCNQ1Thr224Met proband or first degree family member

Exclusion Criteria:

• Family members who have not been contacted by probands

Related Conditions & MeSH terms

• Long QT Syndrome
• Syndrome

Intervention

Genetic:
• Simplified Cascade Screening
Screening of the KCNQ1 Thr224Met variant for family members of probands

Locations

Country	Name	City	State
United States	University of Maryland Amish Research Clinic	Lancaster	Pennsylvania

Sponsors (2)

Lead Sponsor	Collaborator
University of Maryland, Baltimore	National Human Genome Research Institute (NHGRI)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Percentage of At-risk Family Members Who Underwent Cascade Screening	Rate of uptake of cascade screening after the intervention ('simplified')	18 months
Secondary	Extent of Disclosure Determined by Questionnaire	proportion of family members told after the intervention ('simplified')	18 months
Secondary	Number of Informed Relatives Screened Determined by Questionnaire	Number of informed family members tested after the intervention ('simplified')	18 months
Secondary	Number of Participants With an Uptake of Preventative Therapy as Determined by Questionnaire	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.	18 months