Russian Familial Hypercholesterolemia Registry

NCT02208869 | Recruiting DMC

• 1 other identifier: SSCRES0179
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 5

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.

Conditions

Familial Hypercholesterolemia

Keywords

familial hypercholesterolemia; cholesterol; prevention; registry; atherosclerosis; treatment; prevalence

Outcome Measures

Primary Outcomes (1)

• Prevalence of FH patients in the Russian Federation

  at baseline

Secondary Outcomes (6)

• Number of patients with heterozygous and homozygous forms of FH in Russia

  at baseline

• Distribution of lipoprotein(a) in individuals diagnosed with definite and probable FH.

  at baseline

• Severity of carotid atherosclerosis, aortic valve stenosis and coronary heart disease in Russian patients with FH

  at baseline

• Mutations in following genes: low-density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type 9 (PCSK9), apolipoprotein B (apoB)

  At baseline

• Russian Registry of individuals with FH

  up to 10 years

Other Outcomes (2)

• Clinical and diagnostic significance of Dutch Lipid Clinic Network criteria and Simon Broome Registry criteria for diagnosis of FH in Russian population

  up to 5 years

• Family Health Team model and cascade testing in individuals with FH

  up to 3 years

Study Arms (1)

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.

Eligibility Criteria

• Age: 7 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• 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%)

Sponsors & Collaborators

• Russian Cardiology Research and Production Center: lead
• Pfizer: collaborator
• Amgen: collaborator
• AstraZeneca: collaborator

Study Sites (5)

Chelyabinsk State Medical Academy

Chelyabinsk, 454092, Russia

NOT YET RECRUITING

EI Chazov National Medical Research Center of Cardiology

Moscow, 121552, Russia

RECRUITING

Novosibirsk Research Institute of Internal Medicine, Institute of Internal Medicine Siberian Branch of the Russian Academy of Medical Sciences

Novosibirsk, 630089, Russia

NOT YET RECRUITING

Saint-Petersburg State University and North-West State Medical University n.a. I.I.Mechnikov

Saint Petersburg, Russia

NOT YET RECRUITING

Samara State Medical University

Samara, 443099, Russia

NOT YET RECRUITING

Related Publications (3)

• 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)

  BACKGROUND

• 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.

  BACKGROUND

• 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.

  RESULT

Biospecimen

Retention: SAMPLES WITH DNA

whole blood, serum, white cells, urine

MeSH Terms

Conditions

Hyperlipoproteinemia Type II; Atherosclerosis

Condition Hierarchy (Ancestors)

Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hyperlipoproteinemias; Hyperlipidemias; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Arteriosclerosis; Arterial Occlusive Diseases; Vascular Diseases; Cardiovascular Diseases

Study Officials

• Valery Kukharchuk, MD, DMSc

  Russian Cardiology Research and Production Center

  STUDY CHAIR

• Igor Sergienko, MD, DMSc

  Russian Cardiology Research and Production Center

  STUDY DIRECTOR

• Marat Ezhov, MD, DMSc

  Russian Cardiology Research and Production Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Marat Ezhov, MD, PhD

CONTACT

+79104137499; Marat_Ezhov@mail.ru

Igor Sergienko, MD, DMSc

CONTACT

+79031492253; igorcardio@mail.ru

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 10 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Leading Researcher, MD, DMSc

Study Record Dates

• First Submitted: August 2, 2014
• First Posted: August 5, 2014
• Study Start: January 1, 2014
• Primary Completion: December 31, 2017
• Study Completion (Estimated): December 31, 2026
• Last Updated: November 2, 2022

Record last verified: 2022-11

Locations

RU (5)