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Russian Familial Hypercholesterolemia Registry (RuFH)

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2014 by Russian Cardiology Research and Production Center
Sponsor:
Collaborators:
Russian National Atherosclerosis Society
Samara State Medical University
Novosibirsk Research Institute of Internal Medicine
Saint-Petersburg State University
Chelyabinsk State Medical Academy
International Atherosclerosis Society
INVITRO Research Laboratory
Pfizer
Amgen
AstraZeneca
Pharmstandard
Information provided by (Responsible Party):
Marat Vladislavovich Ezhov (MV Ezhov, MD, PhD, DMSc), Russian Cardiology Research and Production Center
ClinicalTrials.gov Identifier:
NCT02208869
First received: August 2, 2014
Last updated: August 8, 2014
Last verified: August 2014
  Purpose

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
Familial Hypercholesterolemia

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

Resource links provided by NLM:


Further study details as provided by Russian Cardiology Research and Production Center:

Primary Outcome Measures:
  • Prevalence of FH patients in the Russian Federation [ Time Frame: at baseline ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • 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.


Other Outcome Measures:
  • 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

whole blood, serum, white cells, urine


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)
Groups/Cohorts
Patients diagnosed with FH

  Show Detailed Description

  Eligibility

Ages Eligible for Study:   7 Years to 80 Years
Genders Eligible for Study:   Both
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.

Criteria

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%)
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02208869

Contacts
Contact: Maya Safarova, MD, PhD +79104703558 Dr.Safarova@gmail.com
Contact: Igor Sergienko, MD, DMSc +79031492253 igorcardio@mail.ru

Locations
Russian Federation
Chelyabinsk State Medical Academy Not yet recruiting
Chelyabinsk, Russian Federation, 454092
Contact: Igor Shaposhnik, MD, DMSc    +79088235120    shaposhnik@yandex.ru   
Contact: Bogdanov Dmitriy, MD, PhD    +79124773437    dmitrchel@mail.com.ru   
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    igorcardio@mail.ru   
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    mvoevoda@ya.ru   
Contact: Yulia Ragino, MD, DMSc    +79537799704    ragino@mail.ru   
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    vktrgurevich@gmail.com   
Contact: Soreya Urazgildeeva, MD, DMSc    +78125599759    docsau64@yandex.ru   
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    kma10@yandex.ru   
Contact: Olesya Rubanenko, MD, PhD    +79371887780    olesya.rubanenko@gmail.com   
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
Russian National Atherosclerosis Society
Samara State Medical University
Novosibirsk Research Institute of Internal Medicine
Saint-Petersburg State University
Chelyabinsk State Medical Academy
International Atherosclerosis Society
INVITRO Research Laboratory
Pfizer
Amgen
AstraZeneca
Pharmstandard
Investigators
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
  More Information

Additional Information:
No publications provided

Responsible Party: Marat Vladislavovich Ezhov (MV Ezhov, MD, PhD, DMSc), Leading Researcher, MD, DMSc, Russian Cardiology Research and Production Center
ClinicalTrials.gov Identifier: NCT02208869     History of Changes
Other Study ID Numbers: SSCRES0179
Study First Received: August 2, 2014
Last Updated: August 8, 2014
Health Authority: Russia: Ministry of Health of the Russian Federation

Keywords provided by Russian Cardiology Research and Production Center:
familial hypercholesterolemia
cholesterol
prevention
registry
atherosclerosis
treatment
prevalence

Additional relevant MeSH terms:
Hypercholesterolemia
Hyperlipoproteinemia Type II
Dyslipidemias
Genetic Diseases, Inborn
Hyperlipidemias
Hyperlipoproteinemias
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Metabolic Diseases
Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on November 27, 2014