Hypercholesterolemia, FamilialGENMOTIV-FHNCT04656028

Genetic Testing and Motivational Counseling for FH

A study testing Genetic Testing, Motivational Counseling and Lipid analysis in people with Hypercholesterolemia, Familial and Hypercholesterolemia, Familial, 1, run by National Medical Research Center for Therapy and Preventive Medicine at 1 site in Russia.

Active, not recruiting

Under way, not looking for participants. Everyone needed has enrolled. The study is still running.

Official record

Search all trials

Trial summary

Who is it for?: Ages 18 years and older
Conditions the study is for: Hypercholesterolemia, Familial, Hypercholesterolemia, Familial, 1, Hypercholesterolemia, Familial, 2
What is being tested?: Genetic Testing, Motivational Counseling and Lipid analysis
Type of treatment: Lifestyle or therapy programme
Could I receive a placebo?: No, everyone receives an active treatment
How many people: 180 participants
Where: 1 siteRussia
Study dates: 15 Jun 2020to 30 Mar 2025
Phase: Interventional
Are there results?: Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

Ages 18 years and older
All sexes
No healthy volunteers
Adult, Older adult

Who may be able to join

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

Who cannot join

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.

Trial locations and contacts

1 site in 1 country.

Russia1 site

National Medical Research Centre for Therapy and Preventive Medicine of the Ministry of Health of Russia
Moscow, 101000

Other trials in Russia

About this study

Official 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)

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.

Read the detailed description

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.

Conditions: Hypercholesterolemia, Familial, Hypercholesterolemia, Familial, 1, Hypercholesterolemia, Familial, 2, Hypercholesterolemia, Familial, 3, Hypercholesterolemia, Familial, 4, Hypercholesterolemia, Familial, 4, Autosomal Recessive
Being tested: Genetic Testing, Motivational Counseling, Lipid analysis, Consultation with a cardiologist-lipidologist (correction of therapy, lifestyle, diet), Visit 1
Keywords: Familial Hypercholesterolemia, FH, genetic testing, motivational counseling, motivational interviewing, cascade screening, adherence, compliance, Hypercholesterolemia, Familial, Hypercholesterolemia, Familial, 1, Hypercholesterolemia, Familial, 2, Hypercholesterolemia, Familial, 3, Hypercholesterolemia, Familial, 4, Hypercholesterolemia, Familial, 4, Autosomal Recessive, Familial Hypercholesterolemia with Hyperlipemia, Hypercholesterolemia, Autosomal Dominant, Type B, Hypercholesterolemia, Autosomal Dominant, Hypercholesterolemia, Autosomal Dominant, 3, Apolipoprotein B-100, Familial Defective, Therapeutic Adherence
Medical subject headings: Hyperlipoproteinemia Type II, Hypercholesterolemia, Autosomal Dominant, 3, Hyperlipoproteinemia Type III, Hypercholesterolemia, Treatment Adherence and Compliance, Medication Adherence, Patient Compliance

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

Genetic TestingGenetic
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 CounselingBehavioural
Also called Motivational Interviewing
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:
1. Increasing motivation for a healthy lifestyle;
2. Increasing adherence to treatment;
3. 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.
Lipid analysisDiagnostic 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 1Other
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 2Other
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 3Other
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 4Other
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.

Study groups in NCT04656028
Study group	Role	What they receive
Group 1 - without genetic testing; subgroup without motivational counseling	Active comparator	Group 1 - without genetic testing; subgroup without motivational counseling Receives: Diagnostic Test: Lipid analysis; Other: Consultation with a cardiologist-lipidologist (correction of therapy, lifestyle, diet); Other: Visit 1; Other: Visit 2; Other: Visit 3; Other: Visit 4
Group 1 - without genetic testing; subgroup with motivational counseling	Experimental	Group 1 - without genetic testing; subgroup with motivational counseling Receives: Behavioral: Motivational Counseling; Diagnostic Test: Lipid analysis; Other: Consultation with a cardiologist-lipidologist (correction of therapy, lifestyle, diet); Other: Visit 1; Other: Visit 2; Other: Visit 3; Other: Visit 4
Group 2 - with genetic testing; subgroup without motivational counseling	Experimental	Group 2 - genetic testing has been performed; subgroup without motivational counseling. Receives: Genetic: Genetic Testing; Diagnostic Test: Lipid analysis; Other: Consultation with a cardiologist-lipidologist (correction of therapy, lifestyle, diet); Other: Visit 1; Other: Visit 2; Other: Visit 3; Other: Visit 4
Group 2 - with genetic testing; subgroup with motivational counseling	Experimental	Group 2 - genetic testing has been performed; subgroup with motivational counseling. Receives: Genetic: Genetic Testing; Behavioral: Motivational Counseling; Diagnostic Test: Lipid analysis; Other: Consultation with a cardiologist-lipidologist (correction of therapy, lifestyle, diet); Other: Visit 1; Other: Visit 2; Other: Visit 3; Other: Visit 4

What is being measured

The primary outcome is the main question the study is designed to answer.

Change in the proportion of people who have reached the target level of LDL-Cholesterol
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)
Measured: 3 months
Change in the number of relatives who underwent cascade screening
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)
Measured: 3 months
Change in the proportion of people adhering to drug therapy
Change in the proportion of people adhering to drug therapy according to the questionnaire MARS-5
Measured: 3 months
Change in the proportion of people adhering to the recommended physical activity
Change in the proportion of people adhering to the recommended physical activity (according to the Global Physical Activity Questionnaire (GPAQ))
Measured: 3 months
Change in the proportion of individuals adhering to the recommended dietary recommendations
Change in the proportion of individuals adhering to the recommended dietary recommendations (according to 24-hour Dietary Recall and Food Frequency Questionnaires)
Measured: 3 months

Secondary outcomes (5)

Change in the proportion of people who have reached the target level of LDL-Cholesterol
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)
Measured: 15 months
Change in the number of relatives who underwent cascade screening
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)
Measured: 15 months
Change in the proportion of people adhering to drug therapy
Change in the proportion of people adhering to drug therapy according to the questionnaire MARS-5
Measured: 15 months
Change in the proportion of people adhering to the recommended physical activity
Change in the proportion of people adhering to the recommended physical activity (according to the Global Physical Activity Questionnaire (GPAQ))
Measured: 15 months
Change in the proportion of individuals adhering to the recommended dietary recommendations
Change in the proportion of individuals adhering to the recommended dietary recommendations (according to 24-hour Dietary Recall and Food Frequency Questionnaires)
Measured: 15 months

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

15 Jun 202030 Mar 2025

First posted7 Dec 2020
Study start15 Jun 2020
Primary completion30 Jan 2025 (estimated)
Study completion30 Mar 2025 (estimated)

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Publications (1)Papers the sponsor has linked to this study.
Other trials for Hypercholesterolemia, FamilialStudies of the same condition, open and under way.
What the trial phases meanHow a treatment moves from first tests in people to approval.

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design

Study type: Interventional
Phase: Phase N/A
Primary purpose: Treatment
Allocation: Randomised
Intervention model: Parallel groups
Model description: The trial is a randomized prospective cohort study. The study will include patients 18 years of age and older with a probable or definite diagnosis of FH according to the Dutch criteria (6 points or more). A total of 180 patients will be included in the study. All patients will be randomly divided into 2 groups for genetic testing. Randomization will be performed as block randomization with a 2:1 allocation ratio (2 with genetic testing : 1 without genetic testing). The allocation ratio 2:1 was chosen because in the group with genetic testing there will be cases where mutation(s) associated with FH will be identified and cases where the mutation(s) will not be identified. A separate analysis is planned in patients with genetic testing and identified mutation(s) and in patients with genetic testing but no identified mutation(s). Each study group will be randomized into 2 subgroups depending on the conduct of motivational counseling with an 1:1 allocation ratio.
Masking: Single blind
Who is masked: Outcomes assessor
Enrolment: 180 participants (estimated)

IDs, dates and publications

ClinicalTrials.gov ID: NCT04656028
Sponsor's protocol ID: 08-03/19
Acronym: GENMOTIV-FH
Status last verified: Dec 2024
First submitted: 30 Nov 2020
Last updated: 17 Dec 2024
Results posted: No
Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No
Individual data sharing: No

Publications

Blokhina AV, Ershova AI, Kopylova OV, Limonova AS, Karamnova NS, Shvabskaya OB, Kiseleva AV, Derbeneva SA, Meshkov AN, Drapkina OM. [Actual nutrition in adults with familial hypercholesterolemia]. Vopr Pitan. 2023;92(4):49-58. doi: 10.33029/0042-8833-2023-92-4-49-58. Epub 2023 Jun 30. Russian.
PubMed 37801454

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

See locations

Active, not recruitingObservational study
Early Detection of Familial Hypercholesterolaemia in Pre-school Children ( CzeCH-IT)
Familial Hypercholesterolaemia
Not yet recruiting
Penn Family Screening for Familial Hypercholesterolemia (NHLBI R33) Trial 3
Familial Hypercholesterolemia
Not yet recruitingObservational study
An Observational Study to Evaluate Treatment Patterns in High, Very High and Extreme Cardiovascular Risk Patients With Hypercholesterolemia, Including Familial Hypercholesterolemia
Hypercholesterolaemia, Familial Hypercholesterolaemia
Active, not recruitingObservational study
Evaluation of the Effect of Lomitapide Treatment on Major Adverse Cardiovascular Events (MACE) in Patients With Homozygous Familial Hypercholesterolemia
Homozygous Familial Hypercholesterolemia (HoFH), Major Adverse Cardiovascular Events (MACE)
Active, not recruitingObservational study
Assessment of the Prevalence of Steatotic Liver Disease Associated With Metabolic Dysfunction in Patients With Heterozygous Familial Hypercholesterolemia
Heterozygous Familial Hypercholesterolemia

All Hypercholesterolemia, Familial trials

Study at a glance

From the registry record, last updated by the sponsor on 17 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.

Official 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)
ClinicalTrials.gov ID: NCT04656028
Acronym / sponsor ID: GENMOTIV-FH / 08-03/19
Conditions: Hypercholesterolemia, Familial, Hypercholesterolemia, Familial, 1, Hypercholesterolemia, Familial, 2, Hypercholesterolemia, Familial, 3, Hypercholesterolemia, Familial, 4, Hypercholesterolemia, Familial, 4, Autosomal Recessive
Keywords: Familial Hypercholesterolemia, FH, genetic testing, motivational counseling, motivational interviewing, cascade screening, adherence, compliance
Study type: Interventional
Recruitment status: Active, not recruiting
Enrolment: 180 participants (estimated)
Lead sponsor: National Medical Research Center for Therapy and Preventive MedicineOther government
Collaborators: Moscow State University of Medicine and Dentistry
Study start: 15 Jun 2020 (actual)
Primary completion: 30 Jan 2025 (estimated)
Study completion: 30 Mar 2025 (estimated)
First posted: 7 Dec 2020 (actual)
Results: Not posted in the source record

Clinical summary

The research question as the sponsor registered it. This describes what the study plans to test, not what it found.

Detailed description

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.

Study design

Primary purpose: Treatment
Allocation: Randomised
Intervention model: Parallel groups
Masking: Single blind (outcomes assessor)
Number of arms: 4
Model description: The trial is a randomized prospective cohort study. The study will include patients 18 years of age and older with a probable or definite diagnosis of FH according to the Dutch criteria (6 points or more). A total of 180 patients will be included in the study. All patients will be randomly divided into 2 groups for genetic testing. Randomization will be performed as block randomization with a 2:1 allocation ratio (2 with genetic testing : 1 without genetic testing). The allocation ratio 2:1 was chosen because in the group with genetic testing there will be cases where mutation(s) associated with FH will be identified and cases where the mutation(s) will not be identified. A separate analysis is planned in patients with genetic testing and identified mutation(s) and in patients with genetic testing but no identified mutation(s). Each study group will be randomized into 2 subgroups depending on the conduct of motivational counseling with an 1:1 allocation ratio.

Arm	Type	Receives
Group 1 - without genetic testing; subgroup without motivational counseling	Active comparator	Diagnostic Test: Lipid analysis, Other: Consultation with a cardiologist-lipidologist (correction of therapy, lifestyle, diet), Other: Visit 1, Other: Visit 2, Other: Visit 3, Other: Visit 4Group 1 - without genetic testing; subgroup without motivational counseling
Group 1 - without genetic testing; subgroup with motivational counseling	Experimental	Behavioral: Motivational Counseling, Diagnostic Test: Lipid analysis, Other: Consultation with a cardiologist-lipidologist (correction of therapy, lifestyle, diet), Other: Visit 1, Other: Visit 2, Other: Visit 3, Other: Visit 4Group 1 - without genetic testing; subgroup with motivational counseling
Group 2 - with genetic testing; subgroup without motivational counseling	Experimental	Genetic: Genetic Testing, Diagnostic Test: Lipid analysis, Other: Consultation with a cardiologist-lipidologist (correction of therapy, lifestyle, diet), Other: Visit 1, Other: Visit 2, Other: Visit 3, Other: Visit 4Group 2 - genetic testing has been performed; subgroup without motivational counseling.
Group 2 - with genetic testing; subgroup with motivational counseling	Experimental	Genetic: Genetic Testing, Behavioral: Motivational Counseling, Diagnostic Test: Lipid analysis, Other: Consultation with a cardiologist-lipidologist (correction of therapy, lifestyle, diet), Other: Visit 1, Other: Visit 2, Other: Visit 3, Other: Visit 4Group 2 - genetic testing has been performed; subgroup with motivational counseling.

Who may qualify

Ages: 18 years and older
Sex: All
Healthy volunteers: Not accepted
Age groups: Adult, Older adult

Key inclusion criteria (2 listed)

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

Key exclusion criteria (5 listed)

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.

Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.

Interventions

Intervention	Type	Arms
Genetic TestingDNA 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).	Genetic	Group 2 - with genetic testing; subgroup with motivational counseling, Group 2 - with genetic testing; subgroup without motivational counseling
Motivational CounselingAlso: Motivational InterviewingMotivational 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: 1. Increasing motivation for a healthy lifestyle; 2. Increasing adherence to treatment; 3. 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.	Behavioural	Group 1 - without genetic testing; subgroup with motivational counseling, Group 2 - with genetic testing; subgroup with motivational counseling
Lipid analysisAssessment of total cholesterol, low density lipoproteins, high density lipoproteins, triglycerides, alanine aminotransferase.	Diagnostic test	Group 1 - without genetic testing; subgroup with motivational counseling, Group 1 - without genetic testing; subgroup without motivational counseling, Group 2 - with 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)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.	Other	Group 1 - without genetic testing; subgroup with motivational counseling, Group 1 - without genetic testing; subgroup without motivational counseling, Group 2 - with genetic testing; subgroup with motivational counseling, Group 2 - with genetic testing; subgroup without motivational counseling
Visit 1Visit 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.	Other	Group 1 - without genetic testing; subgroup with motivational counseling, Group 1 - without genetic testing; subgroup without motivational counseling, Group 2 - with genetic testing; subgroup with motivational counseling, Group 2 - with genetic testing; subgroup without motivational counseling
Visit 2Visit 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	Other	Group 1 - without genetic testing; subgroup with motivational counseling, Group 1 - without genetic testing; subgroup without motivational counseling, Group 2 - with genetic testing; subgroup with motivational counseling, Group 2 - with genetic testing; subgroup without motivational counseling
Visit 3Visit 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.	Other	Group 1 - without genetic testing; subgroup with motivational counseling, Group 1 - without genetic testing; subgroup without motivational counseling, Group 2 - with genetic testing; subgroup with motivational counseling, Group 2 - with genetic testing; subgroup without motivational counseling
Visit 4Visit 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.	Other	Group 1 - without genetic testing; subgroup with motivational counseling, Group 1 - without genetic testing; subgroup without motivational counseling, Group 2 - with genetic testing; subgroup with motivational counseling, Group 2 - with genetic testing; subgroup without motivational counseling

Primary outcome

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)
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)
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
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))
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)

5 secondary outcomes

Change in the proportion of people who have reached the target level of LDL-Cholesterol
Time frame: 15 months
Change in the number of relatives who underwent cascade screening
Time frame: 15 months
Change in the proportion of people adhering to drug therapy
Time frame: 15 months
Change in the proportion of people adhering to the recommended physical activity
Time frame: 15 months
Change in the proportion of individuals adhering to the recommended dietary recommendations
Time frame: 15 months

Results and safety

This study is still under way. Results are not available in the source record yet.

Research links

Official record on ClinicalTrials.govLast updated by the sponsor 17 Dec 2024.
Derived from this study: PubMed 37801454Blokhina AV, Ershova AI, Kopylova OV, Limonova AS, Karamnova NS, Shvabskaya OB, Kiseleva AV, Derbeneva SA, Meshkov AN, Drapkina OM. [Actual nutrition in adults with familial hypercholesterolemia]. Vopr Pitan. 2023;92(4):49-58. doi: 10.33029/0042-8833-2023-92-4-49-58. Epub 2023 Jun 30. Russian.
Individual participant dataSharing planned: No

Related trials for Hypercholesterolemia, Familial

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Referral and contact

AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.

Alexey Meshkov, MD, PhD principal investigator

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

Alexandra Ershova, MD, PhD study director

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

1 site in 1 country: see every site and its status.

Questions about this trial

What is this clinical trial studying?

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 2 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: under way, not looking for participants, as of the sponsor's last update on 17 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 1 site in Russia. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Change in the proportion of people who have reached the target level of LDL-Cholesterol (time frame: 3 months). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT04656028, which also lists 1 linked publication.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Dec 2024.