Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu
Trial record 3 of 18 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.
 
ClinicalTrials.gov Identifier: NCT03783975
Recruitment Status : Recruiting
First Posted : December 21, 2018
Last Update Posted : August 12, 2019
Sponsor:
Collaborator:
National Human Genome Research Institute (NHGRI)
Information provided by (Responsible Party):
Amber Beitelshees, University of Maryland, Baltimore

Tracking Information
First Submitted Date  ICMJE December 18, 2018
First Posted Date  ICMJE December 21, 2018
Last Update Posted Date August 12, 2019
Actual Study Start Date  ICMJE March 7, 2019
Estimated Primary Completion Date August 31, 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures  ICMJE
 (submitted: December 20, 2018)
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
Original Primary Outcome Measures  ICMJE Same as current
Change History Complete list of historical versions of study NCT03783975 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures  ICMJE
 (submitted: December 20, 2018)
  • Extent of disclosure determined by questionnaire [ Time Frame: 18 months ]
    proportion of family members told before ('traditional') versus after ('simplified') the intervention
  • Proportion of informed relatives screened determined by questionnaire [ Time Frame: 18 months ]
    Proportion of informed family members tested before ('traditional') versus after ('simplified')
  • Uptake of preventative therapy by questionnaire [ Time Frame: 18 months ]
    Overall uptake of preventative therapy among carriers across probands and screened family members
Original Secondary Outcome Measures  ICMJE Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title  ICMJE KCNQ1 Cascade Screening
Official Title  ICMJE A Community-Based Approach to Overcoming Barriers to Cascade Screening for Long QT Syndrome
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.
Detailed Description Not Provided
Study Type  ICMJE Interventional
Study Phase  ICMJE Not Applicable
Study Design  ICMJE Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Screening
Condition  ICMJE Long QT Syndrome
Intervention  ICMJE Genetic: Simplified Cascade Screening
Screening of the KCNQ1 Thr224Met variant for family members of probands
Study Arms  ICMJE Experimental: Simplified Cascade Screening
Free, mail-in, saliva-based screening for the KCNQ1 Thr224Met variant.
Intervention: Genetic: Simplified Cascade Screening
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status  ICMJE Recruiting
Estimated Enrollment  ICMJE
 (submitted: December 20, 2018)
500
Original Estimated Enrollment  ICMJE Same as current
Estimated Study Completion Date  ICMJE August 31, 2020
Estimated Primary Completion Date August 31, 2020   (Final data collection date for primary outcome measure)
Eligibility Criteria  ICMJE

Inclusion Criteria:

  • KCNQ1Thr224Met proband or first degree family member

Exclusion Criteria:

  • Family members who have not been contacted by probands
Sex/Gender  ICMJE
Sexes Eligible for Study: All
Gender Based Eligibility: Yes
Ages  ICMJE Child, Adult, Older Adult
Accepts Healthy Volunteers  ICMJE Yes
Contacts  ICMJE
Contact: Amber L Beitelshees, PharmD, MPH 410-706-0118 abeitels@som.umaryland.edu
Contact: Susan Shaub 717-392-4948 sshaub@som.umaryland.edu
Listed Location Countries  ICMJE United States
Removed Location Countries  
 
Administrative Information
NCT Number  ICMJE NCT03783975
Other Study ID Numbers  ICMJE HP-00081981
R21HG010412 ( U.S. NIH Grant/Contract )
Has Data Monitoring Committee No
U.S. FDA-regulated Product
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
IPD Sharing Statement  ICMJE Not Provided
Responsible Party Amber Beitelshees, University of Maryland, Baltimore
Study Sponsor  ICMJE University of Maryland, Baltimore
Collaborators  ICMJE National Human Genome Research Institute (NHGRI)
Investigators  ICMJE Not Provided
PRS Account University of Maryland, Baltimore
Verification Date August 2019

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP