Ignite Creation Date:
2024-05-06 @ 12:32 PM
Last Modification Date:
2024-10-26 @ 1:00 PM
Study NCT ID:
NCT03783975
Status:
TERMINATED
Last Update Posted:
2023-06-27
First Post:
2018-12-18
Brief Title:
KCNQ1 Cascade Screening
Sponsor:
University of Maryland Baltimore
Organization:
University of Maryland Baltimore
Study Overview
Official Title:
A Community-Based Approach to Overcoming Barriers to Cascade Screening for Long QT Syndrome
Status:
TERMINATED
Status Verified Date:
2023-06
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Unable to obtain all survey data due to COVID delay
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 100000-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 ie when simplified free mail-in saliva-based testing was available will be compared to data from before the intervention ie 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 eg seeing a cardiologist andor 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
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| R21HG010412 | NIH | None | httpsreporternihgovquickSearchR21HG010412 |