Trial Outcomes & Findings for KCNQ1 Cascade Screening (NCT NCT03783975)

NCT ID: NCT03783975

Last Updated: 2023-06-27

Results Overview

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

Recruitment status

TERMINATED

Study phase

Target enrollment

131 participants

Primary outcome timeframe

18 months

Results posted on

2023-06-27

Participant Flow

Participant milestones

Participant milestones
Measure	Simplified Cascade Screening Free, mail-in, saliva-based screening for the KCNQ1 Thr224Met variant. Simplified Cascade Screening: Screening of the KCNQ1 Thr224Met variant for family members of probands
Overall Study STARTED	131
Overall Study COMPLETED	131
Overall Study NOT COMPLETED	0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

KCNQ1 Cascade Screening

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Simplified Cascade Screening n=131 Participants Free, mail-in, saliva-based screening for the KCNQ1 Thr224Met variant. Simplified Cascade Screening: Screening of the KCNQ1 Thr224Met variant for family members of probands
Age, Categorical <=18 years	88 Participants n=99 Participants
Age, Categorical Between 18 and 65 years	41 Participants n=99 Participants
Age, Categorical >=65 years	2 Participants n=99 Participants
Age, Continuous	19 years STANDARD_DEVIATION 17 • n=99 Participants
Sex: Female, Male Female	59 Participants n=99 Participants
Sex: Female, Male Male	72 Participants n=99 Participants
Race (NIH/OMB) American Indian or Alaska Native	0 Participants n=99 Participants
Race (NIH/OMB) Asian	0 Participants n=99 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	0 Participants n=99 Participants
Race (NIH/OMB) Black or African American	0 Participants n=99 Participants
Race (NIH/OMB) White	131 Participants n=99 Participants
Race (NIH/OMB) More than one race	0 Participants n=99 Participants
Race (NIH/OMB) Unknown or Not Reported	0 Participants n=99 Participants
Region of Enrollment United States	131 participants n=99 Participants

PRIMARY outcome

Timeframe: 18 months

Population: 809 family members were eligible to be screened and were considered at-risk.

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

Outcome measures

Outcome measures
Measure	Simplified Cascade Screening n=809 Participants Free, mail-in, saliva-based screening for the KCNQ1 Thr224Met variant. Simplified Cascade Screening: Screening of the KCNQ1 Thr224Met variant for family members of probands
Percentage of At-risk Family Members Who Underwent Cascade Screening	131 Participants

SECONDARY outcome

Timeframe: 18 months

Population: Because of COVID, too much time had passed since we had originally contacted the probands and we did not think we could get reliable data on how many family members they had told after the intervention. Thus, these data were not collected. During the COVID pandemic we had to switch gears and warn people with LQTS about the risks of QT-prolongation with chloroquine, hydroxychloroquine, and azithromycin.

proportion of family members told after the intervention ('simplified')

Outcome measures

Outcome data not reported

SECONDARY outcome

Timeframe: 18 months

Population: Number of family members tested of those mailed letters. The overall number of participants analyzed differs from the number in the Participant Flow Module because it represents the number of family members who were mailed letters whereas the participant flow module includes individuals who consented for testing. These numbers are not related to each other because we didn't mail letters to children, although children were eligible for testing.

Number of informed family members tested after the intervention ('simplified')

Outcome measures

Outcome measures
Measure	Simplified Cascade Screening n=145 Participants Free, mail-in, saliva-based screening for the KCNQ1 Thr224Met variant. Simplified Cascade Screening: Screening of the KCNQ1 Thr224Met variant for family members of probands
Number of Informed Relatives Screened Determined by Questionnaire	27 Participants

SECONDARY outcome

Timeframe: 18 months

Population: We analyzed the number of survey responses obtained for the questions on beta-blocker therapy and lifestyle modifications which is why the numbers are different than those reported in the participant flow module.

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.

Outcome measures

Outcome measures
Measure	Simplified Cascade Screening n=31 Participants Free, mail-in, saliva-based screening for the KCNQ1 Thr224Met variant. Simplified Cascade Screening: Screening of the KCNQ1 Thr224Met variant for family members of probands
Number of Participants With an Uptake of Preventative Therapy as Determined by Questionnaire	6 Participants

Adverse Events

Simplified Cascade Screening

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Dr. Amber Beitelshees

University of Maryland Baltimore

Phone: 410-706-0118

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place