Russian Familial Hypercholesterolemia Registry (RuFH)
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.
|Study Type:||Observational [Patient Registry]|
|Study Design:||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|
- Prevalence of FH patients in the Russian Federation [ Time Frame: at baseline ] [ Designated as safety issue: No ]
- Number of patients with heterozygous and homozygous forms of FH in Russia [ Time Frame: at baseline ] [ Designated as safety issue: No ]
- Distribution of lipoprotein(a) in individuals diagnosed with definite and probable FH. [ Time Frame: at baseline ] [ Designated as safety issue: No ]
- Severity of carotid atherosclerosis, aortic valve stenosis and coronary heart disease in Russian patients with FH [ Time Frame: at baseline ] [ Designated as safety issue: No ]
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.
- Mutations in following genes: low-density lipoprotein receptor (LDLR), proprotein convertase subtilisin/kexin type 9 (PCSK9), apolipoprotein B (apoB) [ Time Frame: At baseline ] [ Designated as safety issue: No ]Genetic testing for FH-causing mutation in patients with probable and definite FH
- Russian Registry of individuals with FH [ Time Frame: up to 10 years ] [ Designated as safety issue: No ]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.
- Prognosis of individuals with FH [ Time Frame: at 1, 3, 5, 10 years ] [ Designated as safety issue: Yes ]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.
- 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 ] [ Designated as safety issue: No ]Clinical and diagnostic significance of Dutch Lipid Clinic Network criteria and Simon Broome Registry criteria for the diagnosis of FH in Russia.
- Family Health Team model and cascade testing in individuals with FH [ Time Frame: up to 3 years ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
|Study Start Date:||January 2014|
|Estimated Study Completion Date:||December 2026|
|Estimated Primary Completion Date:||December 2016 (Final data collection date for primary outcome measure)|
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.
Show Detailed Description
Please refer to this study by its ClinicalTrials.gov identifier: NCT02208869
|Contact: Maya Safarova, MD, PhD||+79104703558||Dr.Safarova@gmail.com|
|Contact: Igor Sergienko, MD, DMScemail@example.com|
|Chelyabinsk State Medical Academy||Not yet recruiting|
|Chelyabinsk, Russian Federation, 454092|
|Contact: Igor Shaposhnik, MD, DMSc +79088235120 firstname.lastname@example.org|
|Contact: Bogdanov Dmitriy, MD, PhD +79124773437 email@example.com|
|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 Dr.Safarova@gmail.com|
|Contact: Igor Sergienko, MD, PhD +79031492253 firstname.lastname@example.org|
|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 email@example.com|
|Contact: Yulia Ragino, MD, DMSc +79537799704 firstname.lastname@example.org|
|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 email@example.com|
|Contact: Soreya Urazgildeeva, MD, DMSc +78125599759 firstname.lastname@example.org|
|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 email@example.com|
|Contact: Olesya Rubanenko, MD, PhD +79371887780 firstname.lastname@example.org|
|Principal Investigator: Mikhail Kachkovskiy, MD, DMSc|
|Sub-Investigator: Vasiliy Simerzin, MD, DMSc|
|Sub-Investigator: Olesya Rubanenko, MD, PhD|
|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|