An interventional study of Genetic Testing and Motivational Counseling in Hypercholesterolemia, Familial, Hypercholesterolemia, Familial, 1 and Hypercholesterolemia, Familial, 2, sponsored by National Medical Research Center for Therapy and Preventive Medicine. Active, not recruiting at 1 site in Russian Federation. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2024-12-17.
Sponsored by National Medical Research Center for Therapy and Preventive Medicine · Not applicable, Interventional, and Treatment
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.
There are several tasks of the study:
249 studies on the registry are indexed under Hyperlipoproteinemia Type II; 56 are open to participants now.
This study's planned enrollment of 180 is above the median of 134 across 178 interventional studies indexed under Hyperlipoproteinemia Type II.
Browse Hyperlipoproteinemia Type II studies →National Medical Research Center for Therapy and Preventive Medicine is the lead sponsor of 29 studies on the registry; 11 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
GFR (glomerular filtration rate) is how much blood the kidneys filter each minute. It is usually estimated from a blood test — eGFR, by formulas such as CKD-EPI or MDRD — and some studies ask for it to be measured directly instead. Usually given in mL/min/1.73 m².
Check the method, the units and the minimum the study states. A value of 90 or above is in the normal-or-high range, but kidney damage can show in other tests too.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
GFR and eGFR (kidney filtering)
GFR (glomerular filtration rate) is how much blood the kidneys filter each minute. It is usually estimated from a blood test — eGFR, by formulas such as CKD-EPI or MDRD — and some studies ask for it to be measured directly instead. Usually given in mL/min/1.73 m².
Check the method, the units and the minimum the study states. A value of 90 or above is in the normal-or-high range, but kidney damage can show in other tests too.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Group 1 - without genetic testing; subgroup without 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 1 - without genetic testing; subgroup with motivational counseling
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 - genetic testing has been performed; subgroup without motivational counseling.
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 - genetic testing has been performed; subgroup with motivational counseling.
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
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 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.
Also known as: Motivational Interviewing
Assessment of total cholesterol, low density lipoproteins, high density lipoproteins, triglycerides, alanine aminotransferase.
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: 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 (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 (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 (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.
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)
Time frame: 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)
Time frame: 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
Time frame: 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))
Time frame: 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)
Time frame: 3 months
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)
Time frame: 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)
Time frame: 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
Time frame: 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))
Time frame: 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)
Time frame: 15 months
Plan to share: No
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This study is active, not recruiting, as verified in Dec 2024. You cannot join it, but the record below documents what was studied.
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Hyperlipoproteinemia Type II →
National Medical Research Center for Therapy and Preventive Medicine