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Active, Not Recruiting

NCT Number: NCT04656028

Genetic Testing and Motivational Counseling for FH

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Hypercholesterolemia, Familial Adherence Adherence, Medication Adherence, Patient Apolipoprotein B-100, Familial Defective Behavior Compliance Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dyslipidemias Familial Hypercholesterolemia Familial Hypercholesterolemia - Heterozygous Familial Hypercholesterolemia With Hyperlipemia Genetic Diseases, Inborn Genetic Testing Health Behavior Hypercholesterolemia Hypercholesterolemia, Autosomal Dominant Hypercholesterolemia, Autosomal Dominant, 3 Hypercholesterolemia, Autosomal Dominant, Type B Hypercholesterolemia, Familial, 1 Hypercholesterolemia, Familial, 2 Hypercholesterolemia, Familial, 3 Hypercholesterolemia, Familial, 4 Hypercholesterolemia, Familial, 4, Autosomal Recessive Hyperlipidemias Hyperlipoproteinemia Type II Hyperlipoproteinemia Type III Hyperlipoproteinemias Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Medication Adherence Metabolic Diseases Metabolism, Inborn Errors Motivational Interviewing Nutritional and Metabolic Diseases Patient Acceptance of Health Care Patient Adherence Patient Compliance Therapeutic Adherence Therapeutic Adherence and Compliance Treatment Adherence Treatment Adherence and Compliance

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

National Medical Research Centre for Therapy and Preventive Medicine of the Ministry of Health of Russia

Moscow, 101000, Russia

About this study

There are several tasks of the study:

  • 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.
  • To assess the impact of knowledge of patients with FH about the result of their FH genetic testing on the effectiveness of cascade screening.
  • To assess the influence of motivational counseling of patients with FH on the adherence to a healthy lifestyle and hypolipidemic therapy.
  • To assess the impact of motivational counseling of patients with FH on the effectiveness of cascade screening.

Who can participate

Healthy volunteers accepted: No

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

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.

Treatment and study plan

Genetic Testing

Genetic

DNA is extracted using the QIAamp® DNA Blood Mini Kit (Qiagen, Germany). The DNA concentration is measured on a Qubit 4.0 fluorometer (Thermo Fisher Scientific, USA (TFS)). NGS is performed on Nextseq 550 (Illumina, San Diego, CA, USA). The library preparation is performed using the SeqCap EZ Prime Choice Library kit (Roche, Basel, Switzerland). The Roche panel is used, consisting of 244 (CDS + 25 bp padding) genes including LDLR, APOB, and PCSK9. Reads are aligned to the reference genome (GRCh37). Sequencing analysis resultes in fastq files. Data processing is performed with BWA, Picard, bcftools, GATK3 and generally followed the GATK best practices for variant calling. For clinical interpretation, genetic variants with frequencies in the gnomAD database <0.5% are selected. The pathogenicity of variants is assessed according to the ACMG / AMP2015 guidelines. The identified SNPs are validated by Sanger sequencing (3500 DNA Analyzer, TFS).

Motivational Counseling

Behavioral

Motivational counseling will be carried out during Visit 2 and in one month after Visit 2 by certified psychologist with taking into account the results of the psychodiagnostic survey conducted at the first and second visits.

The goals of motivational counseling:

  • Increasing motivation for a healthy lifestyle;
  • Increasing adherence to treatment;
  • Increased motivation to invite relatives for cascade screening. Motivational counseling will be carried out using methods of motivational interviewing, transtheoretical model of changes, cognitive-behavioral therapy, extended preventive counseling.

Other names: Motivational Interviewing

Lipid analysis

Diagnostic Test

Assessment of total cholesterol, low density lipoproteins, high density lipoproteins, triglycerides, alanine aminotransferase.

Consultation with a cardiologist-lipidologist (correction of therapy, lifestyle, diet)

Other

All patients will be prescribed ezetimibe and statins (atorvastatin / rosuvastatin) at the maximum dosage. If somebody has an intolerance to atorvastatin, the drug will be replaced with rosuvastatin and vice versa. In case of intolerance to all drugs from the statin group, the patient will be prescribed ezetimibe with a PCSK9 inhibitor (alirocumab / evolocumab). After receiving the results of the lipid spectrum, ALT, if necessary, the lipid-lowering therapy may be corrected.

Visit 1

Other

Visit 1: initially (on enrollment) - informed consents signing; lipid blood tests, patient data gathering, and consultation of cardiologist-lipidologist for optimization of lipid-lowering therapy and lifestyle; filling all questionnaires. After this visit patients are randomized to groups with or without genetic testing and then randomized to groups with or without motivational counseling.

Each visit consists of two patient's attendances to the medical center. At the first attendance, it is planned to take blood for analysis, fill out questionnaires; at the second attendance - to perform, a consultation with a cardiologist-lipidologist according to the results of blood analysis. The time interval between two attendances is ≤ 7 days.

Visit 2

Other

Visit 2 (in 2-3 months): lipid blood tests, patient data gathering, and consultation of cardiologist-lipidologist for optimization of lipid lowering-therapy and lifestyle; filling all questionnaires. Patients from the group with genetic testing will get the result of this genetic testing. Patients from the group with motivational counseling will get two consultations with a psychologist (motivational counseling on lifestyle modification) during Visit 2 and in one month after Visit 2.

Each visit consists of two patient's attendances to the medical center. At the first attendance, it is planned to take blood for analysis, fill out questionnaires; at the second attendance - to perform a consultation with a cardiologist-lipidologist according to the results of blood analysis. The time interval between two attendances is ≤ 7 days

Visit 3

Other

Visit 3 (in 3 months after Visit 2): lipid blood tests, patient data gathering, and consultation of cardiologist-lipidologist for optimization of lipid-lowering therapy and lifestyle; filling all questionnaires.

Each visit consists of two patient's attendances to the medical center. At the first attendance, it is planned to take blood for analysis, fill out questionnaires; at the second attendance - to perform a consultation with a cardiologist-lipidologist according to the results of blood analysis. The time interval between two attendances is ≤ 7 days.

Visit 4

Other

Visit 4 (in 12 months after Visit 3): lipid blood tests, patient data gathering, and consultation of cardiologist-lipidologist for optimization of lipid-lowering therapy and lifestyle; filling all questionnaires.

Each visit consists of two patient's attendances to the medical center. At the first attendance, it is planned to take blood for analysis, fill out questionnaires; at the second attendance - to perform a consultation with a cardiologist-lipidologist according to the results of blood analysis. The time interval between two attendances is ≤ 7 days.

Primary outcomes

  1. Change in the proportion of people who have reached the target level of LDL-Cholesterol

    Time frame: 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)

  2. Change in the number of relatives who underwent cascade screening

    Time frame: 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)

  3. Change in the proportion of people adhering to drug therapy

    Time frame: 3 months

    Change in the proportion of people adhering to drug therapy according to the questionnaire MARS-5

  4. Change in the proportion of people adhering to the recommended physical activity

    Time frame: 3 months

    Change in the proportion of people adhering to the recommended physical activity (according to the Global Physical Activity Questionnaire (GPAQ))

  5. Change in the proportion of individuals adhering to the recommended dietary recommendations

    Time frame: 3 months

    Change in the proportion of individuals adhering to the recommended dietary recommendations (according to 24-hour Dietary Recall and Food Frequency Questionnaires)

Secondary outcomes

  1. Change in the proportion of people who have reached the target level of LDL-Cholesterol

    Time frame: 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)

  2. Change in the number of relatives who underwent cascade screening

    Time frame: 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)

  3. Change in the proportion of people adhering to drug therapy

    Time frame: 15 months

    Change in the proportion of people adhering to drug therapy according to the questionnaire MARS-5

  4. Change in the proportion of people adhering to the recommended physical activity

    Time frame: 15 months

    Change in the proportion of people adhering to the recommended physical activity (according to the Global Physical Activity Questionnaire (GPAQ))

  5. Change in the proportion of individuals adhering to the recommended dietary recommendations

    Time frame: 15 months

    Change in the proportion of individuals adhering to the recommended dietary recommendations (according to 24-hour Dietary Recall and Food Frequency Questionnaires)

Sponsors and collaborators

Lead sponsor

National Medical Research Center for Therapy and Preventive Medicine

Other Gov

Collaborators

  • Moscow State University of Medicine and Dentistry

Registry information

Official study title

Impact of Genetic Testing and Motivational Counseling on the Adherence to Healthy Lifestyle and Hypolipidemic Therapy and Efficiency of Cascade Screening in Patients With Familial Hypercholesterolemia (GENMOTIV-FH)

Acronym: GENMOTIV-FH

Important dates

Study start
2020
Primary completion
2025
Study completion
2025
First posted
Dec 7, 2020
Registry last updated
Dec 17, 2024

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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