Collaborative Approach to Reach Everyone With Familial Hypercholesterolemia (CARE-FH) (CARE-FH)

Diagnosis rates of familial hypercholesterolemia (FH) are low in the United States, despite multiple guidelines and recommendations for screening and treatment of high cholesterol, to prevent heart attacks in those affected. Using a stepped-wedge design, the investigators plan to utilize tools from implementation science to improve uptake, acceptability, and sustainability of FH diagnostic programs in primary care settings. If successful, this study will provide tools generalizable to other health care systems to improve FH diagnosis rates.

Study Overview

• Status: Enrolling by invitation
• Conditions: Familial Hypercholesterolemia
• Intervention / Treatment: Behavioral: FH diagnosis program; Behavioral: Implementation strategy package: Develop and implement tools for quality monitoring; Behavioral: Implementation strategy package: Develop educational materials; Behavioral: Implementation strategy package: Conduct educational outreach visits; Behavioral: Implementation strategy package: Intervene with clinicians and patients to enhance; Behavioral: Behavioral (e.g., Psychotherapy, Lifestyle Counseling) Implementation strategy package: Identify and prepare champions Clinical lipid champions; Behavioral: Implementation strategy package: Audit and provide feedback; Behavioral: Implementation strategy package: Stage implementation scale up

Detailed Description

Familial hypercholesterolemia (FH) is a common genetic disorder (prevalence 1 in 250) that requires lifelong sustained medical care. Evidence-based guidelines for screening and treatment for FH exist. These include universal screening of children ages 9-11, of adolescents ages 18-20, and of adults ages 40 and above; approved diagnostic tools including lipid panels and genetic testing; and recommendations for initiation of lipid lowering medication. FH diagnosis is currently made too late in life, often after a premature heart attack has occurred creating a care gap that results in excess cardiovascular morbidity and mortality. Diagnosing FH in the primary care setting would optimize treatment for individuals with FH and close this care gap. Utilizing tools from implementation science and human centered design, and by considering uptake, acceptability, and sustainability of programs related to FH care should improve earlier diagnosis. Implementation strategies that include insights from patients, clinicians, and healthcare systems are necessary. The long-term goal is to create an effective FH diagnosis program that is practical and sustainable in the real-world setting. The main objective of this project is to determine the uptake of an FH diagnosis program integrated into primary care practices to promote early identification of adult and pediatric patients that is generalizable to other healthcare settings. The research question is, does using a multi-level implementation strategy package, designed to address the specific needs of patients, clinicians, and healthcare systems, improve the diagnosis and activation of care management for individuals with FH. The specific aims are to: 1) to design a clinical trial to assess multi-level implementation strategies for improving FH diagnosis in an integrated health system, 2) compare FH diagnosis rates among primary care clinicians who receive the implementation strategy package versus those who do not, 3) to measure implementation success of an organized FH diagnosis program, and 4) to explore patient-related service and health outcomes related to an FH diagnosis program.

• Study Type: Interventional
• Enrollment (Estimated): 532
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Pennsylvania
    • Multiple Locations, Pennsylvania, United States, 00000
      • Geisinger Clinic

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 26 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Primary care clinicians (pediatrician, community medicine, internal medicine) in the Geisinger Healthcare System

Exclusion Criteria:

• None

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: Randomized
• Interventional Model: Sequential Assignment
• Masking: None (Open Label)

Number of Arms

5

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Phase 1; Phased rollout to clinic sites across the the Geisinger system using stepped wedge design	Behavioral: FH diagnosis program; Uptake of screening, diagnosis, and initiation of care management for FH; Behavioral: Implementation strategy package: Develop and implement tools for quality monitoring; EHR tools to order labs, record results, and document FH care; Behavioral: Implementation strategy package: Develop educational materials; Education regarding guidelines for identification and treatment of FH; Behavioral: Implementation strategy package: Conduct educational outreach visits; Continuing medical education (CME) material for FH that is presented to; Behavioral: Implementation strategy package: Intervene with clinicians and patients to enhance; Notify patients simultaneously with clinicians about the need for screening; Behavioral: Behavioral (e.g., Psychotherapy, Lifestyle Counseling) Implementation strategy package: Identify and prepare champions Clinical lipid champions; Clinical lipid champions; Behavioral: Implementation strategy package: Audit and provide feedback; Provide aggregate level feedback to clinics on diagnosing FH; Behavioral: Implementation strategy package: Stage implementation scale up; Develop the timeline for the stepped-wedge rollout to primary care
Other: Phase 2; Phased rollout to clinic sites across the the Geisinger system using stepped wedge design	Behavioral: FH diagnosis program; Uptake of screening, diagnosis, and initiation of care management for FH; Behavioral: Implementation strategy package: Develop and implement tools for quality monitoring; EHR tools to order labs, record results, and document FH care; Behavioral: Implementation strategy package: Develop educational materials; Education regarding guidelines for identification and treatment of FH; Behavioral: Implementation strategy package: Conduct educational outreach visits; Continuing medical education (CME) material for FH that is presented to; Behavioral: Implementation strategy package: Intervene with clinicians and patients to enhance; Notify patients simultaneously with clinicians about the need for screening; Behavioral: Behavioral (e.g., Psychotherapy, Lifestyle Counseling) Implementation strategy package: Identify and prepare champions Clinical lipid champions; Clinical lipid champions; Behavioral: Implementation strategy package: Audit and provide feedback; Provide aggregate level feedback to clinics on diagnosing FH; Behavioral: Implementation strategy package: Stage implementation scale up; Develop the timeline for the stepped-wedge rollout to primary care
Other: Phase 3; Phased rollout to clinic sites across the the Geisinger system using stepped wedge design	Behavioral: FH diagnosis program; Uptake of screening, diagnosis, and initiation of care management for FH; Behavioral: Implementation strategy package: Develop and implement tools for quality monitoring; EHR tools to order labs, record results, and document FH care; Behavioral: Implementation strategy package: Develop educational materials; Education regarding guidelines for identification and treatment of FH; Behavioral: Implementation strategy package: Conduct educational outreach visits; Continuing medical education (CME) material for FH that is presented to; Behavioral: Implementation strategy package: Intervene with clinicians and patients to enhance; Notify patients simultaneously with clinicians about the need for screening; Behavioral: Behavioral (e.g., Psychotherapy, Lifestyle Counseling) Implementation strategy package: Identify and prepare champions Clinical lipid champions; Clinical lipid champions; Behavioral: Implementation strategy package: Audit and provide feedback; Provide aggregate level feedback to clinics on diagnosing FH; Behavioral: Implementation strategy package: Stage implementation scale up; Develop the timeline for the stepped-wedge rollout to primary care
Other: Phase 4; Phased rollout to clinic sites across the the Geisinger system using stepped wedge design	Behavioral: FH diagnosis program; Uptake of screening, diagnosis, and initiation of care management for FH; Behavioral: Implementation strategy package: Develop and implement tools for quality monitoring; EHR tools to order labs, record results, and document FH care; Behavioral: Implementation strategy package: Develop educational materials; Education regarding guidelines for identification and treatment of FH; Behavioral: Implementation strategy package: Conduct educational outreach visits; Continuing medical education (CME) material for FH that is presented to; Behavioral: Implementation strategy package: Intervene with clinicians and patients to enhance; Notify patients simultaneously with clinicians about the need for screening; Behavioral: Behavioral (e.g., Psychotherapy, Lifestyle Counseling) Implementation strategy package: Identify and prepare champions Clinical lipid champions; Clinical lipid champions; Behavioral: Implementation strategy package: Audit and provide feedback; Provide aggregate level feedback to clinics on diagnosing FH; Behavioral: Implementation strategy package: Stage implementation scale up; Develop the timeline for the stepped-wedge rollout to primary care
Other: Phase 5; Phased rollout to clinic sites across the the Geisinger system using stepped wedge design	Behavioral: FH diagnosis program; Uptake of screening, diagnosis, and initiation of care management for FH; Behavioral: Implementation strategy package: Develop and implement tools for quality monitoring; EHR tools to order labs, record results, and document FH care; Behavioral: Implementation strategy package: Develop educational materials; Education regarding guidelines for identification and treatment of FH; Behavioral: Implementation strategy package: Conduct educational outreach visits; Continuing medical education (CME) material for FH that is presented to; Behavioral: Implementation strategy package: Intervene with clinicians and patients to enhance; Notify patients simultaneously with clinicians about the need for screening; Behavioral: Behavioral (e.g., Psychotherapy, Lifestyle Counseling) Implementation strategy package: Identify and prepare champions Clinical lipid champions; Clinical lipid champions; Behavioral: Implementation strategy package: Audit and provide feedback; Provide aggregate level feedback to clinics on diagnosing FH; Behavioral: Implementation strategy package: Stage implementation scale up; Develop the timeline for the stepped-wedge rollout to primary care

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
FH diagnosis rate (Aim 2)	FH diagnosis rate, is achieving both the scheduling of a clinic visit and evidence the clinician, at that visit, has completed evidence-based FH diagnostic evaluation, defined as completing one of: using the FH clinic note to document care, adding FH diagnosis on the problem list, using the FH smart-set (or ordered a genetic test for FH), making a referral to the lipid clinic, or starting a statin for an evidence-based indication	Up to 45 months
Acceptability (Aim 3)	Clinician and patient satisfaction and self-efficacy with the FH diagnosis program	Month 9, 12, 18, 24, 30, 36, 42
Timeliness (Aim 4)	Time to FH screen, time to diagnostic evaluation, time to statin initiation	Up to 45 months

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Initiation medication use (Aim 2)	Initiation of lipid lowering medication by healthcare clinician	Up to 45 months
Lipid measurement (Aim 2)	Order of a lipid panel	Up to 45 months
Genetic testing (Aim 2)	Order of a genetic test for FH	Month 9, 12, 18, 24, 30, 36, 42
Problem list diagnosis of FH (Aim 2)	Clinician adds diagnosis of FH to the patients problem list in the electronic health record	Up to 45 months
FH smartset (Aim 2)	Clinician uses and completes all field of the FH smartset	Month 9, 12, 18, 24, 30, 36, 42
Best Practice Alert (Aim 2)	Clinician adheres to and acts on recommendation in the Best Practice Alert	Up to 45 months
FH Clinic Note (Aim 2)	Clinician completes the FH clinic note	Up to 45 months
Fidelity (Aim 3)	Documentation of adaptations to the FH diagnosis program	Up to 45 months
Cost (Aim 3)	Cost to implement the implementation strategy package	Up to 45 months
Function (Aim 4)	Return of genetic result to patient (if ordered and patient undergoes testing)	Up to 45 months
Function (Aim 4)	Reduction in lipid level from baseline to end of the study period	Up to 45 months
Function (Aim 4)	Patient side effects to medications	Up to 45 months

Collaborators and Investigators

• Sponsor: Geisinger Clinic
• Collaborators: National Heart, Lung, and Blood Institute (NHLBI)
• Investigators: Principal Investigator: Laney K Jones, PharmD, MPH, Geisinger Clinic; Principal Investigator: Samuel S Gidding, MD, Geisinger Clinic

Publications and helpful links

General Publications

• Jones LK, Romagnoli KM, Schubert TJ, Clegg K, Kirchner HL, Hu Y, Cawley D, Norelli V, Williams MS, Gidding SS, Rahm AK. Using implementation science to develop a familial hypercholesterolemia screening program in primary care: The CARE-FH study. J Clin Lipidol. 2024 Mar-Apr;18(2):e176-e188. doi: 10.1016/j.jacl.2024.01.001. Epub 2024 Jan 4.

Study record dates

Study Major Dates

• Study Start (Actual): September 9, 2022
• Primary Completion (Estimated): January 1, 2027
• Study Completion (Estimated): January 1, 2027

Study Registration Dates

• First Submitted: November 18, 2021
• First Submitted That Met QC Criteria: March 8, 2022
• First Posted (Actual): March 17, 2022

Study Record Updates

• Last Update Posted (Estimated): December 22, 2025
• Last Update Submitted That Met QC Criteria: December 18, 2025
• Last Verified: December 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Lipid Metabolism, Inborn Errors; Hyperlipoproteinemias; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hyperlipoproteinemia Type II; Behavioral Disciplines and Activities; Psychotherapy
• Other Study ID Numbers: 2021-0927; 1R61HL161775 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: Available upon request from PIs

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No