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Genetic Testing

Simplified Cascade Screening for Long QT Syndrome

N/A

Waitlist Available

Research Sponsored by University of Maryland, Baltimore

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

KCNQ1Thr224Met proband or first degree family member

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 18 months

Awards & highlights

Study Summary

This trial is testing a simplified genetic screening process for a condition that is 100,000 times more common in the Amish community than in the general population. The investigators will compare the rate of uptake of screening and preventative therapy before and after the intervention is implemented. The primary outcome is the rate of uptake of cascade screening before ('traditional') versus after ('simplified') the intervention.

Eligible Conditions

Long QT Syndrome

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 18 months

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~18 months

This trial's timeline: 3 weeks for screening, Varies for treatment, and 18 months for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.

Primary outcome measures

Percentage of At-risk Family Members Who Underwent Cascade Screening

Secondary outcome measures

Extent of Disclosure Determined by Questionnaire

Number of Informed Relatives Screened Determined by Questionnaire

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

Trial Design

1Treatment groups

Experimental Treatment

Group I: Simplified Cascade ScreeningExperimental Treatment1 Intervention

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

0 / 1Eligibility criteria met

Find a Location

Who is running the clinical trial?

National Human Genome Research Institute (NHGRI)NIH

263 Previous Clinical Trials

284,001 Total Patients Enrolled

University of Maryland, BaltimoreLead Sponsor

688 Previous Clinical Trials

374,525 Total Patients Enrolled

1 Trials studying Long QT Syndrome

200 Patients Enrolled for Long QT Syndrome

Frequently Asked Questions

These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

What is the end goal of this clinical trial?

"This trial is expected to last for 18 months and its primary goal will be assessed through evaluating the number of tests performed. Secondary considerations include assessing how many family members were informed before or after the intervention, what proportion of informed relatives have been screened, and overall uptake of preventative therapy among carriers across participants and their families."

Answered by AI

Are members of the public being enrolled in this research project?

"According to the information hosted on clinicaltrials.gov, this study is not currently seeking applicants as of September 30th 2022. This trial was first posted on March 7th 2019 and has yet to be updated since then. There are however 1392 other medical studies searching for volunteers at present."

Answered by AI

Recent research and studies

clinicaltrials.govStudy

KCNQ1 Cascade Screening

Amber Beitelshees 2019. "KCNQ1 Cascade Screening". ClinicalTrials.gov. https://clinicaltrials.gov/ct2/show/NCT03783975.