Clinical Trial: Russian Familial Hypercholesterolemia Registry
Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]
Official Title: Prospective Russian Study Evaluating the Extent of Underdiagnosed and Undertreated of Familial Hypercholesterolaemia in the Population
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.
Detailed Summary:
*Design. We have chosen a randomly selected cohort of individuals who have been tested in the Moscow office of the "INVITRO" Laboratory on the basis of advertising campaign held in September, 2013, for the purpose of TC level measurement and determination of cardiovascular risk with the use of SCORE chart. The operator from the "INVITRO" Laboratory identified potential FH patients based on TC (≥7.5 mmol/L) or LDL-C (≥4.9 mmol/L) values.
Following identification, the potentially eligible participants suspected for FH are sent a notification letter describing the patient's high cholesterol level, at-atherosclerosis risk status and need for additional screening on the basis of the Russian Cardiology Research and Production Center. Those who give preliminary agreement for participation in the Program are invited to the Institution, where, after signing the ICF, they will undergo clinical (biochemical, echo, duplex scan) and genetic testing. Those individuals refusing to participate in the Program will be taken into account with fixing the reason of unwillingness to participate.
Patients under the age of 18 will be enrolled only with the explicit consent of a parent or legal guardian. All participants will be provided with the information about the Russian FH Community and Russian FH Registry.
All included subjects will be provided with a screening questionnaire querying the patient demographics, past medical history, patient FH history and diagnosis with FH type heterozygous or homozygous, family history of hypercholesterolemia, physical examination findings, current lipid-lowering therapies, and patients' contact information for further follow-up. After initialization of online data capture form (Electronic Medical System), the information will
Sponsor: Russian Cardiology Research and Production Center
Current Primary Outcome: Prevalence of FH patients in the Russian Federation [ Time Frame: at baseline ]
Original Primary Outcome: Same as current
Current Secondary Outcome:
- Number of patients with heterozygous and homozygous forms of FH in Russia [ Time Frame: at baseline ]
- Distribution of lipoprotein(a) in individuals diagnosed with definite and probable FH. [ Time Frame: at baseline ]
- 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.
- 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
- 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.
- 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.
Original Secondary Outcome: Same as current
Information By: Russian Cardiology Research and Production Center
Dates:
Date Received: August 2, 2014
Date Started: January 2014
Date Completion: December 2026
Last Updated: April 29, 2017
Last Verified: April 2017
