SNPMiner Trials by Shray Alag


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Report for Mutation T224M

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 A Community-Based Approach to Overcoming Barriers to Cascade Screening for Long QT Syndrome

The objectives of the protocol are to: (1) evaluate the uptake of cascade screening and preventative therapies before and 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 will be compared before (i.e. when 'traditional' $50 blood-based testing was available to family members) and after the intervention is implemented (i.e. when 'simplified' free, mail-in, saliva-based testing was available). The primary outcome is the rate of uptake of cascade screening before ('traditional') versus after ('simplified') the intervention. 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.

NCT03783975 Long QT Syndrome Genetic: Simplified Cascade Screening
MeSH:Long QT Syndrome Syndrome

KCNQ1 Cascade Screening The objectives of the protocol are to: (1) evaluate the uptake of cascade screening and preventative therapies before and 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. --- Thr224Met ---

Primary Outcomes

Description: rate of uptake of cascade screening before ('traditional') versus after ('simplified') the intervention

Measure: Uptake of cascade screening determined by counting tests performed

Time: 18 months

Secondary Outcomes

Description: proportion of family members told before ('traditional') versus after ('simplified') the intervention

Measure: Extent of disclosure determined by questionnaire

Time: 18 months

Description: Proportion of informed family members tested before ('traditional') versus after ('simplified')

Measure: Proportion of informed relatives screened determined by questionnaire

Time: 18 months

Description: Overall uptake of preventative therapy among carriers across probands and screened family members

Measure: Uptake of preventative therapy by questionnaire

Time: 18 months


HPO Nodes