KCNQ1 Cascade Screening
Primary Purpose
Long QT Syndrome
Status
Terminated
Phase
Not Applicable
Locations
United States
Study Type
Interventional
Intervention
Simplified Cascade Screening
Sponsored by
About this trial
This is an interventional screening trial for Long QT Syndrome focused on measuring Cascade, Screening, Ethical, Legal, Social
Eligibility Criteria
Inclusion Criteria:
- KCNQ1Thr224Met proband or first degree family member
Exclusion Criteria:
- Family members who have not been contacted by probands
Sites / Locations
- University of Maryland Amish Research Clinic
Arms of the Study
Arm 1
Arm Type
Experimental
Arm Label
Simplified Cascade Screening
Arm Description
Free, mail-in, saliva-based screening for the KCNQ1 Thr224Met variant.
Outcomes
Primary Outcome Measures
Percentage of At-risk Family Members Who Underwent Cascade Screening
Rate of uptake of cascade screening after the intervention ('simplified')
Secondary Outcome Measures
Extent of Disclosure Determined by Questionnaire
proportion of family members told after the intervention ('simplified')
Number of Informed Relatives Screened Determined by Questionnaire
Number of informed family members tested after the intervention ('simplified')
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.
Full Information
NCT ID
NCT03783975
First Posted
December 18, 2018
Last Updated
June 2, 2023
Sponsor
University of Maryland, Baltimore
Collaborators
National Human Genome Research Institute (NHGRI)
1. Study Identification
Unique Protocol Identification Number
NCT03783975
Brief Title
KCNQ1 Cascade Screening
Official Title
A Community-Based Approach to Overcoming Barriers to Cascade Screening for Long QT Syndrome
Study Type
Interventional
2. Study Status
Record Verification Date
June 2023
Overall Recruitment Status
Terminated
Why Stopped
Unable to obtain all survey data due to COVID delay
Study Start Date
March 7, 2019 (Actual)
Primary Completion Date
April 27, 2021 (Actual)
Study Completion Date
December 29, 2022 (Actual)
3. Sponsor/Collaborators
Responsible Party, by Official Title
Principal Investigator
Name of the Sponsor
University of Maryland, Baltimore
Collaborators
National Human Genome Research Institute (NHGRI)
4. Oversight
Studies a U.S. FDA-regulated Drug Product
No
Studies a U.S. FDA-regulated Device Product
No
Data Monitoring Committee
No
5. Study Description
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.
6. Conditions and Keywords
Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Long QT Syndrome
Keywords
Cascade, Screening, Ethical, Legal, Social
7. Study Design
Primary Purpose
Screening
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
131 (Actual)
8. Arms, Groups, and Interventions
Arm Title
Simplified Cascade Screening
Arm Type
Experimental
Arm Description
Free, mail-in, saliva-based screening for the KCNQ1 Thr224Met variant.
Intervention Type
Genetic
Intervention Name(s)
Simplified Cascade Screening
Intervention Description
Screening of the KCNQ1 Thr224Met variant for family members of probands
Primary Outcome Measure Information:
Title
Percentage of At-risk Family Members Who Underwent Cascade Screening
Description
Rate of uptake of cascade screening after the intervention ('simplified')
Time Frame
18 months
Secondary Outcome Measure Information:
Title
Extent of Disclosure Determined by Questionnaire
Description
proportion of family members told after the intervention ('simplified')
Time Frame
18 months
Title
Number of Informed Relatives Screened Determined by Questionnaire
Description
Number of informed family members tested after the intervention ('simplified')
Time Frame
18 months
Title
Number of Participants With an Uptake of Preventative Therapy as Determined by Questionnaire
Description
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.
Time Frame
18 months
10. Eligibility
Sex
All
Gender Based
Yes
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility Criteria
Inclusion Criteria:
KCNQ1Thr224Met proband or first degree family member
Exclusion Criteria:
Family members who have not been contacted by probands
Facility Information:
Facility Name
University of Maryland Amish Research Clinic
City
Lancaster
State/Province
Pennsylvania
ZIP/Postal Code
17602
Country
United States
12. IPD Sharing Statement
Learn more about this trial
KCNQ1 Cascade Screening
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