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

Genetic Disease Clinical Trial

— ID-FH  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05238519
• Other study ID #: EH21700
• Status: Recruiting
• Phase: Phase 3
• Start date: February 15, 2022
• Est. completion date: February 2025

Study information

• Verified date: January 2024
• Source: Essentia Health
• Contact: Catherine Benziger, MD MPH
• Phone: 218-576-0506
• Email: cholesterolstudy[@]essentiahealth.org
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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 (EH) and St. Luke's Hospital (SLH) 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 6-month follow-up survey will be sent to participants 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).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 200
• Est. completion date: February 2025
• Est. primary completion date: February 2025
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 2 Years to 75 Years

Eligibility

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.

Related Conditions & MeSH terms

• Cholesterol, Elevated
• Familial Hypercholesterolemia
• Genetic Disease
• Genetic Diseases, Inborn
• Hypercholesterolemia
• Hyperlipoproteinemia Type II

Intervention

Behavioral:
• Motivational interview (MI)
The MI intervention is adapted from the CHEERS study intervention (M Health Fairview) found to be effective in promoting lipid screening in patients at increased risk for FH. Within one month of completion of the baseline survey, a study coordinator, who received training in motivational interview integrity, will conduct a 20-40-minute (depending on participant needs) telephone or virtual (zoom) interview with participants randomized to this arm. Participants will be assessed on their readiness to get their cholesterol checked and discuss with family members the risk of FH.

Locations

Country	Name	City	State
United States	Essentia Health	Duluth	Minnesota
United States	St. Luke's Hospital	Duluth	Minnesota

Sponsors (3)

Lead Sponsor	Collaborator
Essentia Health	St. Luke's Hospital of Duluth, WHITESIDE Institute for Clinical Research

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Knowledge of familial hypercholesterolemia	Self-report of knowledge of personal history of FH will be assessed at baseline and follow up	12 months post intervention
Primary	Cascade screening of 1st degree family members	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	6 months post intervention
Secondary	Proportion of participants with LDL<100	Percent change in proportion of participants with LDL<100 from pre-enrollment LDL-c to follow up.	12 months post enrollment
Secondary	Proportion of participants with LDL<70	Percent change in proportion of participants with LDL<70 from pre-enrollment LDL-c to follow up.	12 months post enrollment
Secondary	Absolute change in LDL from baseline to follow up	Compared absolute and percent lowering of LDL from pre-enrollment LDL-c to follow up.	12 months post enrollment
Secondary	Proportion of patients with self-report of genetic testing	Self-report of completion of a genetic test for familial hypercholesterolemia within 12 months of enrollment	12 months post enrollment