Improving Diagnosis and Clinical Management of Familial Hypercholesterolemia Through Integrated Machine Learning, Implementation Science, and Behavioral Economics (BEAT FH)

The goal of this study is to identify individuals at high risk of FH, and to encourage the appropriate diagnosis and treatment of individuals at high risk of FH through the use of implementation science and behavioral economics principles.

Phase 1: Applying the FIND FH tool to the health system EHR and gathering data for pilot development; Phase 2: Pilot development and implementation; Phase 3: Conduct a large-scale pragmatic trial consistent with recommendations and learnings from the pilots in Phase 2

Study Overview

• Status: Enrolling by invitation
• Conditions: Familial Hypercholesterolemia
• Intervention / Treatment: Behavioral: Inviting patients to complete a telehealth appointment with a lipid specialist for an FH evaluation; Behavioral: Testing centralized referral mechanism for PCPs

Detailed Description

Phase 1:

Aim 1: Adjusting and refining the application of the FIND FH tool to the UPHS EHR database Aim 2: Identifying the barriers and facilitators to making a diagnosis of FH and initiating or intensifying therapy for individuals with FH through qualitative interviews with clinicians and patients and creating a behavioral roadmap to inform the implementation approaches to test in the pilots

Phase 2:

Aim 1: Co-design implementation strategies using behavioral economics in partnership with the Family Heart Foundation Aim 2: Pilot implementation strategies with an enrollment goal of 80 patients total (40 per pilot) who have been flagged by the FIND FH tool as having probable FH to ascertain feasibility, acceptability, and appropriateness

Phase 3: Conduct a large-scale pragmatic trial consistent with recommendations and learnings from the pilots in Phase 2

• Study Type: Interventional
• Enrollment (Estimated): 750
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19146
      • University of Pennsylvania Health System

Participation Criteria

Eligibility Criteria

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

Description

Inclusion Criteria:

• Must be a patient at Penn Medicine
• Must have been flagged by the FIND FH tool as having a high probability of FH
• First language is English
• Resides in PA or NJ

Exclusion Criteria:

• Already have been clinically diagnosed with FH using the proper ICD-10 code
• Currently see a lipid specialist at Penn Medicine
• Pass study clinician's Study Validity Check

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Patients without a primary care physician within the UPHS health system; Patients without a primary care physician within the UPHS health system will receive direct outreach from the study team to invite them to schedule a visit with a lipid specialist for a formal evaluation of FH.	Behavioral: Inviting patients to complete a telehealth appointment with a lipid specialist for an FH evaluation; All eligible patients will be informed that they have been identified by the FIND FH tool as potentially having familial hypercholesterolemia. All patients will be invited to schedule a telehealth appointment with a lipid specialist for a formal evaluation for FH.
Experimental: Patients with a primary care physician within the UPHS health system; For patients with a primary care physician within the UPHS health system, their primary care physicians will be asked to review and sign physician referrals to a lipid specialist and invite patients to schedule a visit with a lipid specialist for a formal evaluation of FH.	Behavioral: Inviting patients to complete a telehealth appointment with a lipid specialist for an FH evaluation; All eligible patients will be informed that they have been identified by the FIND FH tool as potentially having familial hypercholesterolemia. All patients will be invited to schedule a telehealth appointment with a lipid specialist for a formal evaluation for FH.; Behavioral: Testing centralized referral mechanism for PCPs; For patients with a Penn PCP, we are testing a centralized referral mechanism to increase the number of referrals to preventive cardiology (default/opt out referrals) For default/opt out: PCPs will receive a pended order for a referral for their patient to see a lipid specialist for a formal FH evaluation. Not interacting with the pended order or accepting the pended order will indicate that the referral to a lipid specialist should be placed.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Proportion of flagged patients diagnosed with FH (familial hypercholesterolemia) as a result of the intervention	Patients will be evaluated for familial hypercholesterolemia (FH), an underdiagnosed genetic type of high cholesterol. An FH diagnosis will be defined using the Dutch Lipid Clinic Network Diagnostic (DLCN) Criteria for FH (Unlikely, Possible, Probable, Definite). The clinician will also make a clinical assessment of FH informed by the DLCN score and clinical expertise from the appointment.	Day 1 - post intervention study visit

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Proportion of patients that have a change to their lipid management because of the intervention	Defined as the proportion of patients that start (or are prescribed) statins, ezetimibe, PCSK9 inhibitors, or have any intensification of any lipid lowering medications as a result of the visit with the lipid specialist for patients that qualify at the time of the appointment with the lipid specialist.	Day 1 - post intervention study visit
Proportion of patients that have a change to their lipid management among patients that were candidates for a change to their lipid management because of the intervention	Defined as the proportion of patients that start (or are prescribed) statins, ezetimibe, PCSK9 inhibitors, or have any intensification of any lipid lowering medications as a result of the visit with the lipid specialist for patients that qualified and were not already optimally treated at the time of the appointment.	Day 1 - post intervention study visit

Collaborators and Investigators

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

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2022
• Primary Completion (Actual): January 31, 2026
• Study Completion (Estimated): June 30, 2026

Study Registration Dates

• First Submitted: February 17, 2023
• First Submitted That Met QC Criteria: February 17, 2023
• First Posted (Actual): February 27, 2023

Study Record Updates

• Last Update Posted (Actual): March 5, 2026
• Last Update Submitted That Met QC Criteria: March 4, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Keywords: machine learning; FIND FH
• Additional Relevant MeSH Terms: Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Lipid Metabolism, Inborn Errors; Hyperlipoproteinemias; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hyperlipoproteinemia Type II
• Other Study ID Numbers: 849516

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