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Trial record 3 of 17 for:    Recruiting, Not yet recruiting, Available Studies | Long QT syndrome

KCNQ1 Cascade Screening

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03783975
Recruitment Status : Recruiting
First Posted : December 21, 2018
Last Update Posted : August 12, 2019
National Human Genome Research Institute (NHGRI)
Information provided by (Responsible Party):
Amber Beitelshees, University of Maryland, Baltimore

Brief Summary:
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.

Condition or disease Intervention/treatment Phase
Long QT Syndrome Genetic: Simplified Cascade Screening Not Applicable

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Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 500 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Screening
Official Title: A Community-Based Approach to Overcoming Barriers to Cascade Screening for Long QT Syndrome
Actual Study Start Date : March 7, 2019
Estimated Primary Completion Date : August 31, 2020
Estimated Study Completion Date : August 31, 2020

Resource links provided by the National Library of Medicine

Arm Intervention/treatment
Experimental: Simplified Cascade Screening
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

Primary Outcome Measures :
  1. Uptake of cascade screening determined by counting tests performed [ Time Frame: 18 months ]
    rate of uptake of cascade screening before ('traditional') versus after ('simplified') the intervention

Secondary Outcome Measures :
  1. Extent of disclosure determined by questionnaire [ Time Frame: 18 months ]
    proportion of family members told before ('traditional') versus after ('simplified') the intervention

  2. Proportion of informed relatives screened determined by questionnaire [ Time Frame: 18 months ]
    Proportion of informed family members tested before ('traditional') versus after ('simplified')

  3. Uptake of preventative therapy by questionnaire [ Time Frame: 18 months ]
    Overall uptake of preventative therapy among carriers across probands and screened family members

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Gender Based Eligibility:   Yes
Accepts Healthy Volunteers:   Yes

Inclusion Criteria:

  • KCNQ1Thr224Met proband or first degree family member

Exclusion Criteria:

  • Family members who have not been contacted by probands

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03783975

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Contact: Amber L Beitelshees, PharmD, MPH 410-706-0118
Contact: Susan Shaub 717-392-4948

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United States, Pennsylvania
University of Maryland Amish Research Clinic Recruiting
Lancaster, Pennsylvania, United States, 17602
Contact: Susan Shaub, RN    717-392-4948      
Sponsors and Collaborators
University of Maryland, Baltimore
National Human Genome Research Institute (NHGRI)

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Responsible Party: Amber Beitelshees, Assistant Professor, University of Maryland, Baltimore Identifier: NCT03783975     History of Changes
Other Study ID Numbers: HP-00081981
R21HG010412 ( U.S. NIH Grant/Contract )
First Posted: December 21, 2018    Key Record Dates
Last Update Posted: August 12, 2019
Last Verified: August 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Amber Beitelshees, University of Maryland, Baltimore:
Additional relevant MeSH terms:
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Long QT Syndrome
Pathologic Processes
Arrhythmias, Cardiac
Heart Diseases
Cardiovascular Diseases
Cardiac Conduction System Disease
Heart Defects, Congenital
Cardiovascular Abnormalities
Congenital Abnormalities