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

NCT ID: NCT05746247

Last Updated: 2026-02-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Clinical Phase

NA

Total Enrollment

750 participants

Study Classification

INTERVENTIONAL

Study Start Date

2022-03-01

Study Completion Date

2026-06-30

Brief Summary

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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

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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

Conditions

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Familial Hypercholesterolemia

Study Design

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Allocation Method

RANDOMIZED

Intervention Model

PARALLEL

For the pilots, for patients with a PCP within the healthcare system, we are testing 2 different centralized referral models to increase the # of patients that see a lipid specialist (active choice vs default).

For patients without a PCP within the health system, we are testing out health system mediated outreach vs Family Heart Foundation mediated outreach in order to increase the number of patients who make an appointment with a lipid specialist.

For Phase 3: There will be 2 arms. Arm 1) Penn PCP: For patients with a Penn PCP, we will use a default centralized referral model to engage PCPs to sign a referral for their patients to see a lipid specialist. Arm 2) Direct to Patient: For patients without a PCP at Penn, we will conduct direct outreach to the patients to invite them to schedule a free telehealth appointment with a lipid specialist.
Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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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.

Group Type EXPERIMENTAL

Inviting patients to complete a telehealth appointment with a lipid specialist for an FH evaluation

Intervention Type BEHAVIORAL

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.

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.

Group Type EXPERIMENTAL

Testing centralized referral mechanism for PCPs

Intervention Type BEHAVIORAL

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.

Inviting patients to complete a telehealth appointment with a lipid specialist for an FH evaluation

Intervention Type BEHAVIORAL

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.

Interventions

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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.

Intervention Type 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.

Intervention Type BEHAVIORAL

Eligibility Criteria

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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
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Family Heart Foundation

UNKNOWN

Sponsor Role collaborator

Northwestern University

OTHER

Sponsor Role collaborator

University of Pennsylvania

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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University of Pennsylvania Health System

Philadelphia, Pennsylvania, United States

Site Status

Countries

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United States

Other Identifiers

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849516

Identifier Type: -

Identifier Source: org_study_id

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