NCT03783975

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.

Trial Health

57
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
131

participants targeted

Target at P50-P75 for not_applicable

Timeline
Completed

Started Mar 2019

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
terminated

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

December 18, 2018

Completed
3 days until next milestone

First Posted

Study publicly available on registry

December 21, 2018

Completed
3 months until next milestone

Study Start

First participant enrolled

March 7, 2019

Completed
2.1 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 27, 2021

Completed
1.5 years until next milestone

Results Posted

Study results publicly available

October 26, 2022

Completed
2 months until next milestone

Study Completion

Last participant's last visit for all outcomes

December 29, 2022

Completed
Last Updated

June 27, 2023

Status Verified

June 1, 2023

Enrollment Period

2.1 years

First QC Date

December 18, 2018

Results QC Date

July 19, 2022

Last Update Submit

June 2, 2023

Conditions

Long QT Syndrome

Keywords

CascadeScreeningEthicalLegalSocial

Outcome Measures

Primary Outcomes (1)

  • Percentage of At-risk Family Members Who Underwent Cascade Screening

    Rate of uptake of cascade screening after the intervention ('simplified')

    18 months

Secondary Outcomes (3)

  • Extent of Disclosure Determined by Questionnaire

    18 months

  • Number of Informed Relatives Screened Determined by Questionnaire

    18 months

  • Number of Participants With an Uptake of Preventative Therapy as Determined by Questionnaire

    18 months

Study Arms (1)

Simplified Cascade Screening

EXPERIMENTAL

Free, mail-in, saliva-based screening for the KCNQ1 Thr224Met variant.

Genetic: Simplified Cascade Screening

Interventions

Simplified Cascade ScreeningGENETIC

Screening of the KCNQ1 Thr224Met variant for family members of probands

Simplified Cascade Screening

Eligibility Criteria

Sexall(Gender-based eligibility)
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • KCNQ1Thr224Met proband or first degree family member

You may not qualify if:

  • Family members who have not been contacted by probands

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of Maryland Amish Research Clinic

Lancaster, Pennsylvania, 17602, United States

Location

MeSH Terms

Conditions

Long QT Syndrome

Condition Hierarchy (Ancestors)

Arrhythmias, CardiacHeart DiseasesCardiovascular DiseasesCardiac Conduction System DiseaseHeart Defects, CongenitalCardiovascular AbnormalitiesCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesPathologic ProcessesPathological Conditions, Signs and Symptoms

Results Point of Contact

Title
Dr. Amber Beitelshees
Organization
University of Maryland Baltimore
abeitels@som.umaryland.edu
410-706-0118

Publication Agreements

PI is Sponsor Employee
No
Restrictive Agreement
No

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
SCREENING
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Assistant Professor

Study Record Dates

First Submitted

December 18, 2018

First Posted

December 21, 2018

Study Start

March 7, 2019

Primary Completion

April 27, 2021

Study Completion

December 29, 2022

Last Updated

June 27, 2023

Results First Posted

October 26, 2022

Record last verified: 2023-06

Locations

US(1)