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

NCT05746247 | Enrolling By Invitation

• 1 other identifier: 849516
• Study Type: interventional
• Target: 750
• Locations: 1 country
• Sites: 1

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

Conditions

Familial Hypercholesterolemia

Keywords

machine learning; FIND FH

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• Proportion of patients that have a change to their lipid management because of the intervention

  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

  Day 1 - post intervention study visit

Study Arms (2)

Patients without a primary care physician within the UPHS health system

EXPERIMENTAL

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

Patients with a primary care physician within the UPHS health system

EXPERIMENTAL

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: Testing centralized referral mechanism for PCPs; Behavioral: Inviting patients to complete a telehealth appointment with a lipid specialist for an FH evaluation

Interventions

Inviting patients to complete a telehealth appointment with a lipid specialist for an FH evaluation 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; Patients without a primary care physician within the UPHS health system

Testing centralized referral mechanism for PCPs 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.

Patients with a primary care physician within the UPHS health system

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University of Pennsylvania: lead
• Family Heart Foundation: collaborator
• Northwestern University: collaborator

Study Sites (1)

University of Pennsylvania Health System

Philadelphia, Pennsylvania, 19146, United States

Location

MeSH Terms

Conditions

Hyperlipoproteinemia Type II

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: 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.

Study Record Dates

• First Submitted: February 17, 2023
• First Posted: February 27, 2023
• Study Start: March 1, 2022
• Primary Completion: January 31, 2026
• Study Completion (Estimated): June 30, 2026
• Last Updated: March 5, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)