Penn Family Screening for Familial Hypercholesterolemia

Familial Hypercholesterolemia Clinical Trial

— NHLBI-R33  

Official title:

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

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT05750667
• Other study ID #: SP0078729
• Status: Enrolling by invitation
• Phase: N/A
• Start date: January 24, 2023
• Est. completion date: February 28, 2027

Study information

• Verified date: February 2024
• Source: Northwestern University
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

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.

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.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 800
• Est. completion date: February 28, 2027
• Est. primary completion date: February 28, 2026
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Familial Hypercholesterolemia
• Hypercholesterolemia
• Hyperlipoproteinemia Type II

Intervention

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.

Locations

Country	Name	City	State
United States	University of Pennsylvania, Perelman School of Medicine	Philadelphia	Pennsylvania

Sponsors (3)

Lead Sponsor	Collaborator
Northwestern University	Family Heart Foundation, University of Pennsylvania

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Reach	Reach is defined as the proportion of probands who have at least one family member who completes screening (via a lipid panel or an FH genetic test) within 6 months of proband randomization. To mimic real world settings, we will allow family members to select how they would like to complete their screening from a range of mechanisms: sharing results from a recent lipid panel, requesting a lipid panel from their primary care provider, or having the study clinician order a lipid panel via LabCorp, a nationwide lab testing company.	Collected from proband randomization date through six months post-randomization
Secondary	Absolute number of family members who are screened for FH as a result of cascade screening	Absolute number of family members who are screened for FH as a result of cascade screening within 6 months of proband enrollment will be obtained through several complementary approaches: 1) self-report from the proband or from the family member; 2) confirmation of lipid testing by the study; 3) direct receipt of blood lipid panel testing from the lab when ordered by the study clinician.	Collected from proband randomization date to six months post-randomization
Secondary	Absolute number of family members who are newly diagnosed with FH as a result of cascade screening	Absolute number of family members who are newly diagnosed with FH as a result of cascade screening within 6 months of proband enrollment will be obtained through several complementary approaches: 1) self-report from the proband or from the family member; 2) confirmation of genetic testing by the study; 3) direct receipt of genetic testing from the lab when ordered by the study clinician.	Collected from proband randomization date to six months post-randomization
Secondary	LDL-C in probands	Proband LDL-C will be collected via lipid panel results obtained through two complementary approaches: 1) self-report from the proband; or 2) direct receipt of blood lipid panel testing from the lab when ordered by the study clinician.	One-time collection at 12 months post-randomization