Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH)

Phase 3

Recruiting

• Conditions: Genetic Disease; Familial Hypercholesterolemia; Cholesterol, Elevated
• Interventions: Behavioral: Motivational interview (MI)

• Registration Number: NCT05238519
• Lead Sponsor: Essentia Health

Brief Summary

The overall goal of this study is to promote awareness of Familial Hypercholesterolemia (FH). The investigators aim to enroll patients with suspected FH into the study and will randomize them to receive usual care or motivational interview. Primary study outcomes include knowledge of FH, as well as clinical and patient-reported outcomes. This study aims to promote optimal disease management and improve outcomes of FH patients.

Detailed Description

This is a randomized 2-arm study designed to examine the impact of a personalized remote intervention that includes evidence-based risk communication and behavior change techniques with navigation. Patients who meet the inclusion criteria from both Essentia Health (Site A) and Aspirus St. Luke's Hospital (Site B) will be invited to complete the baseline survey. Participants will be randomized to one of two study arms: usual care (UC) and motivational interview (MI). Participant assignment occurs after completion of the baseline survey. Participants randomized to receive a MI will be contacted via telephone or email to schedule a date and time when they are available to receive a video or phone call from the study coordinator. During the MI, participants will be assessed on their readiness to communicate risk with family members. A letter will be sent to the participants physician for notice of the participation in the study. A follow-up survey will be sent to participants approximately 6 months after completion of the baseline survey, in both arms of the study. The study arms will be compared with regard to awareness and treatment of FH (aim 1), as well as the uptake of cascade screening in first- and second-degree relatives (aim 2).

Study Timeline

• Study First Submitted: 2022-02-03
• Study First Submitted QC: 2022-02-03
• Study First Posted: 2022-02-14
• Study Start: 2022-02-15
• Status Verified: 2025-01
• Last Update Submitted: 2025-01-30
• Last Update Posted: 2025-02-03
• Primary Completion: 2025-12
• Study Completion: 2025-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 300

Inclusion Criteria

• Age 2-75 years
• patients with existing clinical diagnosis or suspected FH
• known genetic mutation of FH
• patients with an initial (pretreatment) LDL level >190 mg/dL or total cholesterol >300 mg/dL (age >19 years) or LDL-c > 160mg/dL or total cholesterol >260 mg/dL in children age 2-19 years
• patients currently taking a lipid-lowering medication and have an LDL >124 mg/dL or total cholesterol >195 mg/dL
• capable of providing informed consent
• Patients should reside in Minnesota, Wisconsin or North Dakota.

Exclusion Criteria

• Lack of research authorization
• unable to provide informed consent (including non-English speaking individuals)
• known medical condition other than FH that is thought to contribute to hyperlipidemia (i.e., untreated hypothyroidism, nephrotic syndrome, cholestasis hypopituitarism)
• Pregnant women and prisoners will also be excluded.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Motivational Interview	Motivational interview (MI)	Motivational interview arm will receive a message to schedule a follow up motivational interview via telephone or video after the baseline survey as well as follow up surveys.

Primary Outcome Measures

Name	Time	Method
Knowledge of familial hypercholesterolemia	12 months post intervention	Self-report of knowledge of personal history of FH will be assessed at baseline and follow up
Cascade screening of 1st degree family members	6 months post intervention	Cascade screening will be assessed using self-report of either a) discussion about lipid screening with at least one first-degree relative or b) discussion about genetic testing for FH (in the patient's first-degree relatives) within 6 months of the intervention

Secondary Outcome Measures

Name	Time	Method
Proportion of patients with self-report of genetic testing	12 months post enrollment	Self-report of completion of a genetic test for familial hypercholesterolemia within 12 months of enrollment
Proportion of participants with LDL<100	12 months post enrollment	Percent change in proportion of participants with LDL\<100 from pre-enrollment LDL-c to follow up.
Proportion of participants with LDL<70	12 months post enrollment	Percent change in proportion of participants with LDL\<70 from pre-enrollment LDL-c to follow up.
Absolute change in LDL from baseline to follow up	12 months post enrollment	Compared absolute and percent lowering of LDL from pre-enrollment LDL-c to follow up.

Trial Locations

Locations (2)

Aspirus St. Luke's Hospital; 🇺🇸 Duluth, Minnesota, United States

Essentia Health; 🇺🇸 Duluth, Minnesota, United States