Clinical trial NCT04656028: Genetic Testing and Motivational Counseling for FH
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)
Study type: INTERVENTIONAL
Overall status: ACTIVE_NOT_RECRUITING
Phase: NA
Conditions: 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
Genetic Testing
Motivational Interviewing
Therapeutic Adherence
Therapeutic Adherence and Compliance
Treatment Adherence
Medication Adherence
Treatment Adherence and Compliance
Patient Adherence
Compliance
Patient Compliance
Familial Hypercholesterolemia
Familial Hypercholesterolemia - Heterozygous
Adherence, Patient
Adherence, Medication
Adherence
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
Therapeutic Adherence and Compliance
Patient Adherence
Familial Hypercholesterolemia - Heterozygous
psychological counseling
Adherence, Patient
Adherence, Medication
Treatment Adherence
Medication Adherence
Treatment Adherence and Compliance
Patient Compliance
Lead sponsor: National Medical Research Center for Therapy and Preventive Medicine
Sponsor class: OTHER_GOV
Collaborators: name: Moscow State University of Medicine and Dentistry
First posted: 2020-12-07
Enrollment: 180
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: RANDOMIZED
Intervention model: PARALLEL
Intervention 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.
Primary purpose: TREATMENT

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Change in the proportion of people who have reached the target level of LDL-Cholesterol
timeFrame: 3 months
measure: Change in the number of relatives who underwent cascade screening
timeFrame: 3 months
measure: Change in the proportion of people adhering to drug therapy
timeFrame: 3 months
measure: Change in the proportion of people adhering to the recommended physical activity
timeFrame: 3 months
measure: Change in the proportion of individuals adhering to the recommended dietary recommendations
timeFrame: 3 months
Secondary outcomes:
measure: Change in the proportion of people who have reached the target level of LDL-Cholesterol
timeFrame: 15 months
measure: Change in the number of relatives who underwent cascade screening
timeFrame: 15 months
measure: Change in the proportion of people adhering to drug therapy
timeFrame: 15 months
measure: Change in the proportion of people adhering to the recommended physical activity
timeFrame: 15 months
measure: Change in the proportion of individuals adhering to the recommended dietary recommendations
timeFrame: 15 months
Other outcomes:
Locations:
city: Moscow
country: Russian Federation
facility: National Medical Research Centre for Therapy and Preventive Medicine of the Ministry of Health of Russia
Study officials:
affiliation: National Medical Research Centre for Therapy and Preventive Medicine, Ministry of Health of Russia
name: Alexey Meshkov, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: National Medical Research Centre for Therapy and Preventive Medicine, Ministry of Health of Russia
name: Alexandra Ershova, MD, PhD
role: STUDY_DIRECTOR
References: