Working… Menu

Russian Familial Hypercholesterolemia Registry (RuFH)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT02208869
Recruitment Status : Recruiting
First Posted : August 5, 2014
Last Update Posted : September 19, 2018
Information provided by (Responsible Party):
Marat Vladislavovich Ezhov (MV Ezhov, MD, PhD, DMSc), Russian Cardiology Research and Production Center

Brief Summary:

True prevalence of FH in the Russian Federation is unknown which leads to low percentage of diagnosed and treated cases. Research is needed to determine the prevalence of FH, specific diagnostic algorithms and optimal treatment strategies. The main aim of the present study is to evaluate the extent to which FH is underdiagnosed and undertreated in the Russian Federation for reduction of cardiovascular risk related to atherosclerosis in the country.

As a first step, total cholesterol (TC) and low-density lipoprotein (LDL-C) levels will be determined in a random sample from Moscow population (n=18000). It is expected that TC ≥ 7.5 mmol/L will be detected in 10% of cohort. During 2014, approximately 500 patients will pass through non-invasive clinical examination at the Russian Cardiology Research and Production Center, including patient demographics, past medical history, family history of hypercholesterolemia, physical findings, current lipid-lowering therapies, blood tests, genetic analysis, echocardiography, carotid duplex ultrasound and exercise SPECT imaging in selected cases. On the basis of the Moscow Program four major Federal Medical Centers will be involved, and FH Registry will be created as a national, multi-center initiative to screen FH patients, control their diagnosis and management, and track clinical-reported outcomes over time.

Establishment of National Guidelines for the diagnosis and treatment of FH on the basis of these data and implementation those into clinical practice in different regions of Russia will allow improving patient care. As an expected outcome, this program will raise awareness and increase appropriate assessment and treatment of FH patients in Russia, leading to a timely detection of the disease and therapy initiation.

Condition or disease
Familial Hypercholesterolemia

  Show Detailed Description

Layout table for study information
Study Type : Observational [Patient Registry]
Estimated Enrollment : 1000 participants
Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration: 10 Years
Official Title: Prospective Russian Study Evaluating the Extent of Underdiagnosed and Undertreated of Familial Hypercholesterolaemia in the Population
Study Start Date : January 2014
Actual Primary Completion Date : December 31, 2017
Estimated Study Completion Date : December 31, 2026

Resource links provided by the National Library of Medicine

Patients diagnosed with FH

Subjects of both sexes above the age of 18 with TC ≥7.5 mmol/L or LDL-C ≥4.9 mmol/L will be included in the Program. Clinical diagnosis of FH will be established using both the Dutch and the British criteria.

Those with secondary causes of hypercholesterolemia, such as untreated diabetes mellitus (HbA1c >8%) or hypothyroidism (thyroid-stimulating hormone >1.5 upper normal limit), renal failure (creatinine clearance <30 ml/min), holestatic liver diseases, including biliary cirrhosis, tumors with an active process in the last 5 years will be excluded from the study.

Primary Outcome Measures :
  1. Prevalence of FH patients in the Russian Federation [ Time Frame: at baseline ]

Secondary Outcome Measures :
  1. Number of patients with heterozygous and homozygous forms of FH in Russia [ Time Frame: at baseline ]
  2. Distribution of lipoprotein(a) in individuals diagnosed with definite and probable FH. [ Time Frame: at baseline ]
  3. Severity of carotid atherosclerosis, aortic valve stenosis and coronary heart disease in Russian patients with FH [ Time Frame: at baseline ]

    Assessment of carotid atherosclerosis will be performed with the use of carotid duplex scanning.

    Presence and severity of aortic valve stenosis will be evaluated with echocardiography.

    Exercise radionuclide myocardial perfusion imaging with single-photon emission computed tomography (SPECT) will be used for the diagnosis of myocardial ischemia in patients suspicious for CHD.

  4. Mutations in following genes: low-density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type 9 (PCSK9), apolipoprotein B (apoB) [ Time Frame: At baseline ]
    Genetic testing for FH-causing mutation in patients with probable and definite FH

  5. Russian Registry of individuals with FH [ Time Frame: up to 10 years ]
    Contribution in the formation of the Russian Health Ministry legislative acts concerning significance of FH as a socially and medically important disease with appropriate management strategies.

  6. Prognosis of individuals with FH [ Time Frame: at 1, 3, 5, 10 years ]
    Incidence of death from cardiovascular causes, nonfatal myocardial infarction, nonfatal stroke, revascularization procedures (cardiac, carotid, or peripheral), hospitalizations due to unstable angina pectoris or heart failure, all-cause mortality, diabetes in participants without baseline diabetes, new or recurrent cancers.

Other Outcome Measures:
  1. Clinical and diagnostic significance of Dutch Lipid Clinic Network criteria and Simon Broome Registry criteria for diagnosis of FH in Russian population [ Time Frame: up to 5 years ]
    Clinical and diagnostic significance of Dutch Lipid Clinic Network criteria and Simon Broome Registry criteria for the diagnosis of FH in Russia.

  2. Family Health Team model and cascade testing in individuals with FH [ Time Frame: up to 3 years ]

Biospecimen Retention:   Samples With DNA
whole blood, serum, white cells, urine

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   7 Years to 80 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Russian cohort of individuals who have been tested in the offices of the "INVITRO" Laboratory on the basis of advertising campaign for the purpose of total cholesterol level measurement and determination of cardiovascular risk with the use of SCORE chart.

Inclusion Criteria:

  • Total cholesterol ≥7.5 mmol/L or LDL-C ≥4.9 mmol/L (pretreatment levels)
  • Familial hypercholesterolemia defined as: a. Mutation in the LDL receptor and/or the ApoB gene and/or the PCSK9 gene; or b. clinical diagnosis of heterozygous FH (HeFH) according to the Dutch Lipid Network Criteria or Simon Broom Criteria
  • Patients with genetic mutation of FH

Exclusion Criteria:

  • uncontrolled primary hypothyroidism (thyroid stimulating hormone (TSH) >1.5 x upper limit of normal (ULN)),
  • nephrotic syndrome and/or renal dysfunction (scrum creatinine >2.0 mg/dL or 160mmol/l, creatinine clearance <15 ml/min) at screening.
  • uncontrolled diabetes mellitus (Glycated hemoglobin >8.5%)

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02208869

Layout table for location contacts
Contact: Maya Safarova, MD, PhD +79104703558
Contact: Igor Sergienko, MD, DMSc +79031492253

Layout table for location information
Russian Federation
Chelyabinsk State Medical Academy Not yet recruiting
Chelyabinsk, Russian Federation, 454092
Contact: Igor Shaposhnik, MD, DMSc    +79088235120   
Contact: Bogdanov Dmitriy, MD, PhD    +79124773437   
Principal Investigator: Igor Shaposhnik, MD, DMSc         
Sub-Investigator: Bogdanov Dmitriy, MD, PhD         
Sub-Investigator: Salashenko Aleksey, MD< PhD         
Sub-Investigator: Genkel Vadim, MD, PhD         
Russian Research and Production Center Recruiting
Moscow, Russian Federation, 121552
Contact: Maya Safarova, MD, PhD    +79104703558   
Contact: Igor Sergienko, MD, PhD    +79031492253   
Sub-Investigator: Anna Semenova, MD, PhD         
Sub-Investigator: Vladmir Malakhov, MD,PhD         
Sub-Investigator: Diana Nozadze, MD,PhD         
Sub-Investigator: Maya Safarova, MD,PhD         
Sub-Investigator: Pavel Malyshev, MD,DMSc         
Sub-Investigator: Andrey Susekov, MD, DMSc         
Sub-Investigator: Natalya Gornyakova, MD,PhD         
Sub-Investigator: Alexey Ansheles, PhD         
Sub-Investigator: Tatiana Balakhonova, MD, DMSc         
Sub-Investigator: Olga Pogorelova, PhD         
Sub-Investigator: Maria Tripoten, PhD         
Sub-Investigator: Valeriy Masenko, PhD, DSc         
Sub-Investigator: Anton Postnov, PhD, DSc         
Sub-Investigator: Vladimir Sergienko, PhD, DSc         
Sub-Investigator: Ludmila Samoylenko, PhD, DSc         
Sub-Investigator: Konstantin Ivanov, MD, PhD         
Sub-Investigator: Grigory Heymets, PhD, DSc         
Novosibirsk Research Institute of Internal Medicine, Institute of Internal Medicine Siberian Branch of the Russian Academy of Medical Sciences Not yet recruiting
Novosibirsk, Russian Federation, 630089
Contact: Mikhail Voevoda, MD, DMSc    +79139505088   
Contact: Yulia Ragino, MD, DMSc    +79537799704   
Principal Investigator: Mikhail Voevoda, MD, DMSc         
Sub-Investigator: Yuriy Nikitin, MD, DMSc         
Sub-Investigator: Yulia Ragino, MD, DMSc         
Sub-Investigator: Elena Shakhtshneider, MD, DMSc         
Sub-Investigator: Ksenia Makarenkova, MD, PhD         
Sub-Investigator: Elena Antonova, MD, PhD         
Sub-Investigator: Elena Voevoda, MD         
Saint-Petersburg State University and North-West State Medical University n.a. I.I.Mechnikov Not yet recruiting
Saint Petersburg, Russian Federation
Contact: Viktor Gurevich, MD, DMSc    +78125599759   
Contact: Soreya Urazgildeeva, MD, DMSc    +78125599759   
Principal Investigator: Viktor Gurevich, MD, DMSc         
Sub-Investigator: Soreya Urazgildeeva, MD, DMSc         
Sub-Investigator: Alexey Tregubov, MD, PhD         
Sub-Investigator: Maria Muzalevskaya, MD, PhD         
Samara State Medical University Not yet recruiting
Samara, Russian Federation, 443099
Contact: Mikhail Kachkovsky, MD, PhD    +79171187181   
Contact: Olesya Rubanenko, MD, PhD    +79371887780   
Principal Investigator: Mikhail Kachkovskiy, MD, DMSc         
Sub-Investigator: Vasiliy Simerzin, MD, DMSc         
Sub-Investigator: Olesya Rubanenko, MD, PhD         
Sponsors and Collaborators
Russian Cardiology Research and Production Center
Layout table for investigator information
Study Chair: Valery Kukharchuk, MD, DMSc Russian Cardiology Research and Production Center
Study Director: Igor Sergienko, MD, DMSc Russian Cardiology Research and Production Center
Principal Investigator: Marat Ezhov, MD, DMSc Russian Cardiology Research and Production Center
Study Chair: Yuriy Karpov, MD, DMsc Russian Cardiology Research and Production Center

Additional Information:
Publications of Results:
EAS Familial Hypercholesterolaemia Studies Collaboration, Vallejo-Vaz AJ, Akram A, Kondapally Seshasai SR, Cole D, Watts GF, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Freiberger T, Abifadel M, Aguilar-Salinas CA, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Ceska R, Corral P, Descamps O, Dieplinger H, Do CT, Durst R, Ezhov MV, Fras Z, Gaita D, Gaspar IM, Genest J, Harada-Shiba M, Jiang L, Kayikcioglu M, Lam CS, Latkovskis G, Laufs U, Liberopoulos E, Lin J, Lin N, Maher V, Majano N, Marais AD, März W, Mirrakhimov E, Miserez AR, Mitchenko O, Nawawi H, Nilsson L, Nordestgaard BG, Paragh G, Petrulioniene Z, Pojskic B, Reiner Ž, Sahebkar A, Santos LE, Schunkert H, Shehab A, Slimane MN, Stoll M, Su TC, Susekov A, Tilney M, Tomlinson B, Tselepis AD, Vohnout B, Widén E, Yamashita S, Catapano AL, Ray KK. Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration. Atheroscler Suppl. 2016;22:1-32. doi: 10.1016/j.atherosclerosissup.2016.10.001.

Other Publications:
M. S. Safarova, I. V. Sergienko, M. V. Ezhov, A. E. Semenova, M. A. Kachkovskiy, I. I. Shaposhnik, V. S. Gurevich, M. I. Voevoda, Y. P. Nikitin, V. V. Kuharchuk, Yu. A. Karpov Russian research program for early diagnosis and treatment of familial hypercholesterolaemia: Rationale and Design of the Russian FH Registry (RuFH). Journal of ATHEROSCLEROSIS AND DYSLIPIDAEMIAS 3: 7-15, 2014 (in Russian)
Ezhov MV SI, Duplyakov DV, Abashina OE, Kachkovsky MA, Shaposhnik II, Genkel VV, Gurevich VS, Urazgildeeva SA, Tregubov AV, Konovalova TB, Muzalevskaya MV, Voevoda MI, Bazhan SS, Makarenkova KV, Timoshenko OV, Ragino YI, Urvantseva IA, Cozhocar KG, Sokolov AA, Boeva OI, Bolotova EV, Kushnaryova YB, Kuznetsova TY, Korneva VA, Bogdanov DY, Chichina EE, Soloviev VM, Smolenskaya OG, Galyavich AS, Safarova MS, Popova AV, Malakhov VV, Ansheles AA, Nozadze DN, Semenova AE, Rozhkova TA, Solovéva EY, Gornyakova NB, Karpov YA, Kukharchuk VV. Results of the Russian research program on the diagnosis and treatment of patients with familial hypercholesterolemia. High prevalence, low awareness, poor adherence. Atherosclerosis and Dyslipidaemias An official Journal of the Russian National Atherosclerosis Society (RNAS) 2017;2:5-15.

Layout table for additonal information
Responsible Party: Marat Vladislavovich Ezhov (MV Ezhov, MD, PhD, DMSc), Leading Researcher, MD, DMSc, Russian Cardiology Research and Production Center Identifier: NCT02208869     History of Changes
Other Study ID Numbers: SSCRES0179
First Posted: August 5, 2014    Key Record Dates
Last Update Posted: September 19, 2018
Last Verified: September 2018
Keywords provided by Marat Vladislavovich Ezhov (MV Ezhov, MD, PhD, DMSc), Russian Cardiology Research and Production Center:
familial hypercholesterolemia
Additional relevant MeSH terms:
Layout table for MeSH terms
Hyperlipoproteinemia Type II
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn