Equitable Implementation of Cascade Screening for Familial Hypercholesterolemia

Leveraging Behavioral Economics to Equitably Implement Cascade Screening in Individuals With Familial Hypercholesterolemia in Partnership With the Family Heart Foundation

Design, refine, and pilot the two implementation approaches using behavioral economics and then seek further feedback prior to the proposed clinical trial, consistent with these recommendations.

Aim 1. Co-design both implementation strategies using behavioral economics in partnership with the Family Heart Foundation and key partners from diverse backgrounds.

Aim 2. Pilot strategies with 20 patients with high cholesterol and/or with familial hypercholesterolemia (FH) to ascertain feasibility, acceptability, appropriateness.

Study Overview

• Status: Completed
• Conditions: Familial Hypercholesterolemia
• Intervention / Treatment: Other: Cascade Screening

Detailed Description

Aim 1. Conduct interviews with patients with high cholesterol and/or FH and clinicians to identify common barriers and facilitators for individuals to engage in cascade screening. These activities will occur in the first 7 months and will serve as inputs into the design of the implementation strategies to ensure that strategies address determinants identified in the interviews.

Aim 2. To maximize success, pilot test the implementation strategies and the planned data collection approaches.

• Study Type: Observational
• Enrollment (Actual): 22

Contacts and Locations

• Study Contact: Name: Rinad Beidas, PhD; Phone Number: 617-519-6676; Email: rinad.beidas@pennmedicine.upenn.edu
• Study Contact Backup: Name: Adina Lieberman, MPH; Phone Number: 856-237-7014; Email: adina.lieberman@pennmedicine.upenn.edu

Study Locations

• United States
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • University of Pennsylvania, Perelman School of Medicine

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Aim 1 (Interviews). We will conduct interviews with 15 patients with high cholesterol and/or FH to understand barriers and facilitators to cascade screening. 17 clinicians are being interviewed through our sister protocol in an effort to reduce interview burden on clinicians. Duration of participation will last the length of one qualitative interview.

Aim 2 (Pilot Testing Strategies). Participants will include 20 patients with high cholesterol and/or FH. At least half will identify as racial and/or ethnic minorities (i.e., Black or African American, Asian), female, and/or have low income. Patients will be randomized to receive the Penn- or FHF-mediated strategy. Duration of participation will last up to 3 months for each participant.

Description

Inclusion Criteria:

• Patients with high cholesterol and/or FH (i.e., probands; Aim 1 Interviews, Aim 2 Pilot Testing Strategies, Aim 2 Interviews). Adults aged 18 and older with clinically diagnosed FH and/or high cholesterol who are treated within Penn Medicine.
• Family Members (Aim 2 Pilot Testing Strategies, Aim 2 Interviews). Adults aged 18 and older who have a family member who has been identified as a patient with high cholesterol and/or FH who is treated within Penn Medicine (i.e., family members of probands).

Exclusion Criteria:

- none

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Prospective

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Qualitative Interviews; Conduct 15 interviews with patients diagnosed with FH. Interviews will be 30-60 minutes in length and will focus on how individuals understand cascade screening, barriers to engagement including reasons why individuals do and do not share health information with family members, and preferred approaches to engaging family members, with a focus on acceptability, appropriateness, and feasibility of the planned implementation strategies. Interviewers will also attend to structural factors such as medical mistrust and experiences of racism in health care, and ask about preferences and logistics to incorporate preference into the future clinical trial design.
Penn-mediated implementation strategy; The Penn-mediated implementation strategy will be designed and then iterated upon during mini-pilots. As part of this strategy, the patients would receive text messages and/or emails containing information about FH and cascade screening from Penn Medicine. This would include a request for the patient to identify first-degree biological relatives. They would be given a choice of either contacting their family members directly or sharing their contact information so someone from Penn Medicine can contact them. If the proband chooses to contact their family members, they receive educational information to share with them. Family members would be offered FH screening at no cost by blood lipid panel.	Other: 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.
Family Heart Foundation-mediated implementation strategy; The Family Heart Foundation (FHF)-mediated implementation strategy will be designed and then iterated upon during mini-pilots. As part of this strategy, the patient would be contacted by a FHF patient navigator. The patient navigator would ask to set up a time to talk to the patient to talk about options for contacting family members, introduce them to the services they can provide to the patient and/or family members and obtain some details about the patient's family. The patient would come up with a plan to either contact their family members directly or have the patient navigator contact them. Family members will be offered FH screening at no cost by blood lipid panel. The patient and/or family members will be able to contact the patient navigator at any time with questions.	Other: 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Aim 1 Qualitative Interview Outcome: Perspectives on cascade screening	We will learn about the perspectives on cascade screening from clinicians and patients with high cholesterol and/or FH (probands) via qualitative interview.	1-time interview to last 1 hour
Aim 2 Mini-Pilot Outcome: Engagement	We define engagement as the number of patients with FH and/or high cholesterol (probands) who respond to at least one outreach attempt.	3 months
Aim 2 Mini-Pilot Outcome: Reach	We define reach as the proportion of probands who have at least one family member who completes cascade screening.	3 months
Aim 2 Mini-Pilot Outcome: Perspectives on implementation strategies	We will learn about the perspectives on the implementation strategies (health system-mediated, Family Heart Foundation-mediated) - including their perceived acceptability, appropriateness, and feasibility - of patients with high cholesterol and/or FH (probands) and family members via qualitative interview.	1-time interview to last approximately 15-30 minutes

Collaborators and Investigators

• Sponsor: Northwestern University
• Collaborators: University of Pennsylvania; Family Heart Foundation

Study record dates

Study Major Dates

• Study Start (Actual): July 20, 2022
• Primary Completion (Actual): June 20, 2023
• Study Completion (Actual): June 20, 2023

Study Registration Dates

• First Submitted: June 8, 2022
• First Submitted That Met QC Criteria: June 17, 2022
• First Posted (Actual): June 24, 2022

Study Record Updates

• Last Update Posted (Actual): September 29, 2023
• Last Update Submitted That Met QC Criteria: September 28, 2023
• Last Verified: September 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Lipid Metabolism Disorders; Hyperlipidemias; Dyslipidemias; Lipid Metabolism, Inborn Errors; Hyperlipoproteinemias; Hypercholesterolemia; Hyperlipoproteinemia Type II
• Other Study ID Numbers: 851061

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No