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

Not Applicable

• Conditions: Familial Hypercholesterolemia

• Registration Number: NCT05746247
• Lead Sponsor: University of Pennsylvania

Brief Summary

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

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 Timeline

• Study Start: 2022-03-01
• Study First Submitted: 2023-02-17
• Study First Submitted QC: 2023-02-17
• Study First Posted: 2023-02-27
• Status Verified: 2024-11
• Last Update Submitted: 2024-11-04
• Last Update Posted: 2024-11-06
• Primary Completion: 2025-07-30
• Study Completion: 2025-07-30

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 80

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

Exclusion Criteria

• Already have been clinically diagnosed with FH using the proper ICD-10 code

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: CROSSOVER

Primary Outcome Measures

Name	Time	Method
Proportion of flagged patients diagnosed with FH (familial hypercholesterolemia) as a result of the intervention	Day 1 - post intervention study visit	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.

Secondary Outcome Measures

Name	Time	Method
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	Day 1 - post intervention study visit	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.
Proportion of patients that have a change to their lipid management because of the intervention	Day 1 - post intervention study visit	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.

Trial Locations

Locations (1)

University of Pennsylvania Health System; 🇺🇸 Philadelphia, Pennsylvania, United States