An interventional study of Simplified Cascade Screening in Long QT Syndrome, sponsored by University of Maryland, Baltimore. Terminated at 1 site in United States. Per ClinicalTrials.gov, last updated 2023-06-27.
Sponsored by University of Maryland, Baltimore · Not applicable, Interventional, and Screening
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.
95 studies on the registry are indexed under Long QT Syndrome; 20 are open to participants now.
This study's enrollment of 131 is above the median of 44 across 45 interventional studies indexed under Long QT Syndrome.
Browse Long QT Syndrome studies →University of Maryland, Baltimore is the lead sponsor of 687 studies on the registry; 130 are open to participants now.
Of its 90 completed or terminated interventional studies of FDA-regulated products, 63 (70%) have results posted.
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Exclusion Criteria:
Free, mail-in, saliva-based screening for the KCNQ1 Thr224Met variant.
Genetic: Simplified Cascade Screening
Screening of the KCNQ1 Thr224Met variant for family members of probands
Percentage of At-risk Family Members Who Underwent Cascade Screening
Rate of uptake of cascade screening after the intervention ('simplified')
Time frame: 18 months
Extent of Disclosure Determined by Questionnaire
proportion of family members told after the intervention ('simplified')
Time frame: 18 months
Number of Informed Relatives Screened Determined by Questionnaire
Number of informed family members tested after the intervention ('simplified')
Time frame: 18 months
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.
Time frame: 18 months
| Milestone | Simplified Cascade Screening |
|---|---|
| Started | 131 |
| Completed | 131 |
| Not completed | 0 |
Rate of uptake of cascade screening after the intervention ('simplified')
| Participants | Simplified Cascade Screening |
|---|---|
| Percentage of At-risk Family Members Who Underwent Cascade Screening | 131 |
proportion of family members told after the intervention ('simplified')
No measurements were reported for this outcome.
Number of informed family members tested after the intervention ('simplified')
| Participants | Simplified Cascade Screening |
|---|---|
| Number of Informed Relatives Screened Determined by Questionnaire | 27 |
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.
| Participants | Simplified Cascade Screening |
|---|---|
| Number of Participants With an Uptake of Preventative Therapy as Determined by Questionnaire | 6 |
Collected over Adverse events were obtained at the time of saliva sample collection.. Non-serious events are listed at a 0% frequency threshold.
| Group | Deaths | Serious | Other |
|---|---|---|---|
| Simplified Cascade Screening | 0/131 (0%) | 0/131 (0%) | 0/131 (0%) |
| Age, Categorical(Participants) | Simplified Cascade Screening |
|---|---|
| <=18 years | 88 |
| Between 18 and 65 years | 41 |
| >=65 years | 2 |
| Age, Continuous(years) | Simplified Cascade Screening |
|---|---|
| Mean | 19 ± 17 |
| Sex: Female, Male(Participants) | Simplified Cascade Screening |
|---|---|
| Female | 59 |
| Male | 72 |
| Race (NIH/OMB)(Participants) | Simplified Cascade Screening |
|---|---|
| American Indian or Alaska Native | 0 |
| Asian | 0 |
| Native Hawaiian or Other Pacific Islander | 0 |
| Black or African American | 0 |
| White | 131 |
| More than one race | 0 |
| Unknown or Not Reported | 0 |
| Region of Enrollment(participants) | Simplified Cascade Screening |
|---|---|
| United States | 131 |
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University of Maryland, Baltimore