Penn Family Screening for Familial Hypercholesterolemia

Official title

Leveraging Behavioral Economics to Equitably Implement Cascade Screening in Individuals With Familial Hypercholesterolemia in Partnership With the FH Foundation (R33 Phase)

Overview

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.

Detailed description

This project leverages Penn Medicine's and the investigative team's longstanding partnership with the Family Heart Foundation (FHF), a nonprofit research and advocacy organization, to test two promising approaches to implementing cascade screening. The study will test two patient-facing implementation strategies to increase reach of cascade screening with FH probands within Penn Medicine. This pragmatic randomized controlled trial (RCT) will test (a) a health system (Penn Medicine)-mediated strategy using automated text messages and emails, (b) an FHF-mediated strategy delivered by a navigator, and (c) the "usual care" approach. Both active strategies use centralized direct contact to relatives and behavioral economics. Specifically, we will conduct a 3-arm hybrid type III effectiveness-implementation RCT.

Aim 1: Compare the effect of the three arms on effectiveness and implementation outcomes.

* Reach (primary outcome): proportion of probands who have at least one family member who completes screening * Absolute number of family members screened * Absolute number of family members with a new FH diagnosis * Proband LDL-C levels 12 months post-randomization

Aim 2: Use mixed methods to identify implementation strategy mechanisms with a focus on health equity. In Aim 2a, the researchers will conduct qualitative interviews to understand proband perspectives on mechanisms of the implementation strategies using the Consolidated Framework for Implementation Research, oversampling for populations at risk for disparities. In Aim 2b, the researchers will explore disparities quantitatively by evaluating differential strategy effectiveness by race/ethnicity and gender; and descriptively explore differential strategy effectiveness by income and medical mistrust.

Interventions

• Behavioral Cascade screening
  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.

Primary outcome measures

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

Secondary outcome measures (3)

• Absolute number of family members who are screened for FH as a result of cascade screening [Time frame: Collected from proband randomization date to six months post-randomization]
• Absolute number of family members who are newly diagnosed with FH as a result of cascade screening [Time frame: Collected from proband randomization date to six months post-randomization]
• LDL-C in probands [Time frame: One-time collection at 12 months post-randomization]

Eligibility criteria

Inclusion Criteria (probands):

• Adults aged 18 years and older with clinically diagnosed FH who are treated within the Penn Medicine system
• Have contact information for at least one living, first-degree biological relative
• Have a cell phone with texting capabilities and/or access to email

Exclusion Criteria (probands):

• People under age 18
• Do not have contact information for at least one living, first-degree biological relative
• Do not have a cell phone with texting capabilities nor access to email

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation

Randomized

Model

Parallel assignment

Masking

Open label

Primary purpose

Health services research

Study locations

United States · 1 center

• University of Pennsylvania, Perelman School of Medicine — Philadelphia

Publications

• Johnson C, Chen J, McGowan MP, Tricou E, Card M, Pettit AR, Klaiman T, Rader DJ, Volpp KG, Beidas RS. Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial. Implement Sci. 2024 Apr 9;19(1):30. doi: 10.1186/s13012-024-01355-x. PMID 38594685

Identifiers

NCT: NCT05750667 · SP0078729

Primary sources (government registries)

• ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗