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OpenTrials
Enrolling by Invitation

NCT Number: NCT05746247

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

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

Enrolling by Invitation

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Key information

Conditions

Familial Hypercholesterolemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dyslipidemias Genetic Diseases, Inborn Hyperlipidemias Hyperlipoproteinemia Type II Hyperlipoproteinemias Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

University of Pennsylvania Health System

Philadelphia, Pennsylvania, 19146, United States

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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.

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.

Primary outcomes

  1. Proportion of flagged patients diagnosed with FH (familial hypercholesterolemia) as a result of the intervention

    Time frame: 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 outcomes

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

    Time frame: 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.

  2. 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

    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.

Sponsors and collaborators

Lead sponsor

University of Pennsylvania

Other

Collaborators

  • Family Heart Foundation
  • Northwestern University

Registry information

Acronym: BEAT FH

Important dates

Study start
2022
Primary completion
2026
Study completion
2026
First posted
Feb 27, 2023
Registry last updated
Mar 5, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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