Penn Family Screening for Familial Hypercholesterolemia

Conditions

• Familial Hypercholesterolemia

Eligibility Criteria

Sex

ALL

Age

18 Years - N/A

Healthy Volunteers

Not accepted

Interventions

• Cascade screening — BEHAVIORAL
  FH is a genetic condition that causes high LDL cholesterol starting at birth. When one individual with FH is diagnosed, it is important that biological family members are also screened, since there is a 50% chance that each first-degree relative will have also inherited FH. More distant relatives may also have inherited FH. This evidence-based process is known as cascade screening.

Study Details

The goal of this clinical trial is to test two implementation strategies (automated health system \[Penn Medicine\]-mediated strategy vs. Family Heart Foundation-mediated strategy using a patient navigator) versus usual care to promote family cascade screening for familial hypercholesterolemia (FH) in Penn Medicine patients diagnosed with FH ("probands"). The main questions this study aims to answer are: (1) evaluating the effect of the three approaches on reach (proportion of probands who have at least one family member who completes screening), number of family members screened, number of family members diagnosed with FH, and proband LDL-C levels; and (2) identifying implementation strategy mechanisms focusing on health equity using mixed methods and oversampling populations that experience disparities. Participants (probands) in the active arms (health system \[Penn Medicine\]-mediated, Family Heart Foundation-mediated) will receive messaging that provides education about FH and provides instructions for participating in family cascade screening. A subset of probands will be invited to complete a qualitative interview about their experience receiving the implementation strategy. The research team will compare the active arms to Penn Medicine usual care for cascade screening to evaluate whether the active arms are more effective at promoting cascade screening than usual care.

Key Dates

First listed

Mar 2, 2023

Start date

Jan 24, 2023

Status verified

Feb 2026

Primary completion

Feb 28, 2027

Completion

Feb 28, 2027

Study Design

Enrollment

800 participants (estimated)

Allocation

RANDOMIZED

Intervention model

PARALLEL

Primary purpose

HEALTH_SERVICES_RESEARCH

Arms

• Experimental: Penn Medicine (health system)-mediated
  Probands receive automated text messages and/or emails through the Way to Health (WTH) platform containing information about FH and cascade screening from Penn Medicine, and a request to identify first-degree biological relatives. Probands choose whether to contact relatives themselves or share contact information so that automated text messages and/or emails can be sent by Penn Medicine to relatives directly via WTH. If probands opt to contact relatives themselves (self-contact), they receive tips on how to do this effectively. If probands opt for Penn Medicine to contact their relatives (direct contact), relatives receive information via WTH about FH and instructions for screening. All relatives (regardless of whether they were contacted via self-contact and direct contact) will be offered FH screening at no cost. If a proband's initial choice of outreach is not successful, they will have the option of initiating the alternate outreach approach (direct or self-contact).
• Experimental: Family Heart Foundation-mediated
  After using WTH to conduct an identity screen and giving probands an option to opt-out of having their information shared with Family Heart Foundation (FHF), FHF reaches out directly to probands via an FHF-employed navigator. During an initial call, the navigator introduces the proband to navigation services, conducts a social history, and initiates a plan for contacting relatives. Probands choose whether to contact relatives themselves (self-contact) or have FHF contact relatives directly (direct contact). Those who choose self-contact receive personalized coaching to address barriers and concerns. For direct contact relatives, FHF will call these relatives directly. All relatives (regardless of whether they were contacted via self-contact and direct contact) will be offered FH screening at no cost. If a proband's initial choice of outreach is not successful, they will have the option of initiating the alternate outreach approach (direct or self-contact).
• No Intervention: Usual Care
  Probands randomized to this arm will not receive any contact from the research team or Family Heart Foundation regarding cascade screening (i.e., no intervention).

Primary Outcome Measure

Reach [ Time Frame: Collected from proband randomization date through six months post-randomization ]

Locations (1)

Find similar trials in Philadelphia, PA

Related Studies

• Collaborative Approach to Reach Everyone With Familial Hypercholesterolemia (CARE-FH)
  Enrolling By Invitation · Geisinger Clinic · Multiple Locations, Pennsylvania
• Comparing Direct vs Indirect Methods for Cascade Screening
  Recruiting · University of Maryland, Baltimore · Lancaster, Pennsylvania
• Improving Diagnosis and Clinical Management of Familial Hypercholesterolemia Through Integrated Machine Learning, Implementation Science, and Behavioral Economics
  Enrolling By Invitation · University of Pennsylvania · Philadelphia, Pennsylvania
• Long-term Efficacy and Safety of OLE LIB003 in HoFH, HeFH, and High-risk CVD Patients Requiring Further LDL-C Reduction
  PHASE3 · Enrolling By Invitation · LIB Therapeutics LLC · Evanston, Illinois