Status:

RECRUITING

Comparing Direct vs Indirect Methods for Cascade Screening

Lead Sponsor:

University of Maryland, Baltimore

Conditions:

Long QT Syndrome

Familial Hypercholesterolemia

Eligibility:

All Genders

18+ years

Phase:

NA

Brief Summary

An important aspect of successful genomic medicine implementation is developing effective approaches for screening at-risk family members after probands are identified, also known as cascade screening...

Detailed Description

Individuals who are known to carry the KCNQ1 Met224Thr or APOB Arg3527Gln variant will be eligible to participate. After providing consent and being deemed eligible, individuals will be randomized in ...

Eligibility Criteria

Inclusion

  • Proband
  • KCNQ1 Thr224Met or APOB R3527Q carrier
  • 18 years or older
  • Proband

Exclusion

  • None
  • Family Inclusion Criteria:
  • 1st degree relative of a KCNQ1 Thr224Met or APOB Arg3527Gln carrier
  • Family

Key Trial Info

Start Date :

May 15 2023

Trial Type :

INTERVENTIONAL

Allocation :

ESTIMATED

End Date :

March 1 2027

Estimated Enrollment :

200 Patients enrolled

Trial Details

Trial ID

NCT05348564

Start Date

May 15 2023

End Date

March 1 2027

Last Update

April 18 2025

Active Locations (1)

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1

University of Maryland Amish Research Clinic

Lancaster, Pennsylvania, United States, 17602