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

Overview

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

Interventions

• 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.
• 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.

Primary outcome measures

• Proportion of flagged patients diagnosed with FH (familial hypercholesterolemia) as a result of the intervention [Time frame: Day 1 - post intervention study visit]

Secondary outcome measures (2)

• Proportion of patients that have a change to their lipid management because of the intervention [Time frame: 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 [Time frame: Day 1 - post intervention study visit]

Eligibility criteria

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

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

Diagnostic

Study locations

United States · 1 center

• University of Pennsylvania Health System — Philadelphia

Identifiers

NCT: NCT05746247 · 849516

Primary sources (government registries)

• ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗