Genetic Testing and Motivational Counseling for FH

Not Applicable

Active, not recruiting

• Conditions: Hypercholesterolemia, Familial; Hypercholesterolemia, Familial, 2; Hypercholesterolemia, Autosomal Dominant, 3; Treatment Adherence and Compliance; Familial Hypercholesterolemia; Adherence, Medication; Hypercholesterolemia, Familial, 4; Apolipoprotein B-100, Familial Defective; Genetic Testing; Motivational Interviewing
• Interventions: Diagnostic Test: Lipid analysis; Genetic: Genetic Testing; Other: Consultation with a cardiologist-lipidologist (correction of therapy, lifestyle, diet); Behavioral: Motivational Counseling; Other: Visit 1; Other: Visit 2; Other: Visit 3; Other: Visit 4

• Registration Number: NCT04656028
• Lead Sponsor: National Medical Research Center for Therapy and Preventive Medicine

Brief Summary

To date, there are highly effective lipid-lowering drugs, the combination of which makes it possible to achieve the target level of LDL-C in most patients with familial hypercholesterolemia (FH). However, the effectiveness of treatment of FH patients strongly depends on adherence to lipid-lowering therapy and to the healthy lifestyle, as well as the detection of the disease and the therapy prescription as early as possible, better in childhood. The aim of the study is to assess the impact of genetic testing and motivational counseling on the effectiveness of treatment and cascade screening in patients with FH.

Detailed Description

There are several tasks of the study:

1. To assess the effect of knowledge of patients with FH about the result of their FH genetic testing on the adherence to a healthy lifestyle and hypolipidemic therapy.

2. To assess the impact of knowledge of patients with FH about the result of their FH genetic testing on the effectiveness of cascade screening.

3. To assess the influence of motivational counseling of patients with FH on the adherence to a healthy lifestyle and hypolipidemic therapy.

4. To assess the impact of motivational counseling of patients with FH on the effectiveness of cascade screening.

Study Timeline

• Study Start: 2020-06-15
• Study First Submitted: 2020-11-30
• Study First Submitted QC: 2020-11-30
• Study First Posted: 2020-12-07
• Status Verified: 2024-12
• Last Update Submitted: 2024-12-16
• Last Update Posted: 2024-12-17
• Primary Completion: 2025-01-30
• Study Completion: 2025-03-30

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 180

Inclusion Criteria

• Probable or definite diagnosis of FH according to the Dutch criteria (6 points or more);
• Signed informed consent;

Exclusion Criteria

• Pregnancy or lactation at the time of enrollment
• Established active severe infectious disease or severe hematologic, metabolic, gastrointestinal or endocrine dysfunctions (for example, uncontrolled thyroid dysfunction or uncontrolled diabetes mellitus) in the opinion of the investigator
• Active liver disease
• Estimated GFR≤ 30 ml / min / 1.73m2
• Any other conditions at Visit 1 that, according to the investigator's opinion, render the patient ineligible for inclusion in the study, may interfere with the patient's participation in the study or patient's completion of the study.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Group 1 - without genetic testing; subgroup without motivational counseling	Visit 1	Group 1 - without genetic testing; subgroup without motivational counseling
Group 1 - without genetic testing; subgroup without motivational counseling	Visit 2	Group 1 - without genetic testing; subgroup without motivational counseling
Group 1 - without genetic testing; subgroup without motivational counseling	Visit 3	Group 1 - without genetic testing; subgroup without motivational counseling
Group 1 - without genetic testing; subgroup without motivational counseling	Lipid analysis	Group 1 - without genetic testing; subgroup without motivational counseling
Group 1 - without genetic testing; subgroup without motivational counseling	Consultation with a cardiologist-lipidologist (correction of therapy, lifestyle, diet)	Group 1 - without genetic testing; subgroup without motivational counseling
Group 1 - without genetic testing; subgroup with motivational counseling	Visit 1	Group 1 - without genetic testing; subgroup with motivational counseling
Group 1 - without genetic testing; subgroup with motivational counseling	Visit 2	Group 1 - without genetic testing; subgroup with motivational counseling
Group 1 - without genetic testing; subgroup with motivational counseling	Visit 3	Group 1 - without genetic testing; subgroup with motivational counseling
Group 2 - with genetic testing; subgroup without motivational counseling	Visit 1	Group 2 - genetic testing has been performed; subgroup without motivational counseling.
Group 1 - without genetic testing; subgroup with motivational counseling	Lipid analysis	Group 1 - without genetic testing; subgroup with motivational counseling
Group 1 - without genetic testing; subgroup without motivational counseling	Visit 4	Group 1 - without genetic testing; subgroup without motivational counseling
Group 1 - without genetic testing; subgroup with motivational counseling	Consultation with a cardiologist-lipidologist (correction of therapy, lifestyle, diet)	Group 1 - without genetic testing; subgroup with motivational counseling
Group 1 - without genetic testing; subgroup with motivational counseling	Visit 4	Group 1 - without genetic testing; subgroup with motivational counseling
Group 2 - with genetic testing; subgroup without motivational counseling	Consultation with a cardiologist-lipidologist (correction of therapy, lifestyle, diet)	Group 2 - genetic testing has been performed; subgroup without motivational counseling.
Group 2 - with genetic testing; subgroup without motivational counseling	Visit 3	Group 2 - genetic testing has been performed; subgroup without motivational counseling.
Group 2 - with genetic testing; subgroup with motivational counseling	Motivational Counseling	Group 2 - genetic testing has been performed; subgroup with motivational counseling.
Group 2 - with genetic testing; subgroup with motivational counseling	Consultation with a cardiologist-lipidologist (correction of therapy, lifestyle, diet)	Group 2 - genetic testing has been performed; subgroup with motivational counseling.
Group 1 - without genetic testing; subgroup with motivational counseling	Motivational Counseling	Group 1 - without genetic testing; subgroup with motivational counseling
Group 2 - with genetic testing; subgroup with motivational counseling	Visit 1	Group 2 - genetic testing has been performed; subgroup with motivational counseling.
Group 2 - with genetic testing; subgroup with motivational counseling	Visit 2	Group 2 - genetic testing has been performed; subgroup with motivational counseling.
Group 2 - with genetic testing; subgroup with motivational counseling	Visit 4	Group 2 - genetic testing has been performed; subgroup with motivational counseling.
Group 2 - with genetic testing; subgroup without motivational counseling	Genetic Testing	Group 2 - genetic testing has been performed; subgroup without motivational counseling.
Group 2 - with genetic testing; subgroup without motivational counseling	Lipid analysis	Group 2 - genetic testing has been performed; subgroup without motivational counseling.
Group 2 - with genetic testing; subgroup without motivational counseling	Visit 4	Group 2 - genetic testing has been performed; subgroup without motivational counseling.
Group 2 - with genetic testing; subgroup without motivational counseling	Visit 2	Group 2 - genetic testing has been performed; subgroup without motivational counseling.
Group 2 - with genetic testing; subgroup with motivational counseling	Genetic Testing	Group 2 - genetic testing has been performed; subgroup with motivational counseling.
Group 2 - with genetic testing; subgroup with motivational counseling	Lipid analysis	Group 2 - genetic testing has been performed; subgroup with motivational counseling.
Group 2 - with genetic testing; subgroup with motivational counseling	Visit 3	Group 2 - genetic testing has been performed; subgroup with motivational counseling.

Primary Outcome Measures

Name	Time	Method
Change in the number of relatives who underwent cascade screening	3 months	Change in the number of relatives who underwent cascade screening (% of relatives out of all available relatives. Available relatives are those who are alive and live in the region of where the study is conducted (Moscow and Moscow region)
Change in the proportion of people adhering to the recommended physical activity	3 months	Change in the proportion of people adhering to the recommended physical activity (according to the Global Physical Activity Questionnaire (GPAQ))
Change in the proportion of people adhering to drug therapy	3 months	Change in the proportion of people adhering to drug therapy according to the questionnaire MARS-5
Change in the proportion of individuals adhering to the recommended dietary recommendations	3 months	Change in the proportion of individuals adhering to the recommended dietary recommendations (according to 24-hour Dietary Recall and Food Frequency Questionnaires)
Change in the proportion of people who have reached the target level of LDL-Cholesterol	3 months	Change in the proportion of people who have reached the target level of LDL-Cholesterol (target values of LDL-C according to the ESC Dislipidaemia Guidelines 2019)

Secondary Outcome Measures

Name	Time	Method
Change in the proportion of people adhering to drug therapy	15 months	Change in the proportion of people adhering to drug therapy according to the questionnaire MARS-5
Change in the proportion of people who have reached the target level of LDL-Cholesterol	15 months	Change in the proportion of people who have reached the target level of LDL-Cholesterol (target values of LDL-C according to the ESC Dislipidaemia Guidelines 2019)
Change in the proportion of people adhering to the recommended physical activity	15 months	Change in the proportion of people adhering to the recommended physical activity (according to the Global Physical Activity Questionnaire (GPAQ))
Change in the proportion of individuals adhering to the recommended dietary recommendations	15 months	Change in the proportion of individuals adhering to the recommended dietary recommendations (according to 24-hour Dietary Recall and Food Frequency Questionnaires)
Change in the number of relatives who underwent cascade screening	15 months	Change in the number of relatives who underwent cascade screening (% of relatives out of all available relatives. Available relatives are those who are alive and live in the region of where the study is conducted (Moscow and Moscow region)

Trial Locations

Locations (1)

National Medical Research Centre for Therapy and Preventive Medicine of the Ministry of Health of Russia; 🇷🇺 Moscow, Russian Federation