Pediatric Population Screening for Type 1 Diabetes and Familial Hypercholesterolemia in Lower Saxony,...
Type 1 DiabetesFamilial HypercholesterolemiaThis is a Pilot/ feasibility study for a population-based Screening in all children 2 to 6 years in Lower Saxony, Germany during the compulsory (U7 (from the age of 2) U7a, U8, U9) routine check-ups and any voluntary visits to the pediatricians office.
Return of Actionable Variants Empirical Study
Familial HypercholesterolemiaThis is a genomic implementation project with ancillary studies to understand the impact on patients' health and well-being of returning genomic results to them and depositing those results in the medical record.
IN-TANDEM Familial Hypercholesterolemia Pilot Study
Familial HypercholesterolemiaThe purpose of this study is to validate the use of the FH Foundation FIND FH® Algorithm as a clinical decision support tool. FIND FH (Flag/Identify/Network/Engage) is a national initiative that utilizes machine learning and data mining techniques to identify individuals whose profiles are consistent with FH patients. The algorithm will be tested in adults with at least one cardiovascular comorbidity. Study subjects will be asked to provide either a saliva, buccal or venous blood sample for DNA and biomarker analysis
Genetic Causes of Hypercholesterolaemia in the Emirati Population
Familial HypercholesterolemiaThe scientific aims of the project are to understand the genetic basis of Familial Hypercholesterolaemia (FH) in the Emirati population and estimate the overall prevalence of the disease. In addition, a clinical aim of the project is to explore the effectiveness of screening the relatives of individuals affected by FH and other lipid disorders ("cascade" screening) within Emirati families.
Developing and Implementing Familial Hypercholesterolemia Registry
Familial HypercholesterolemiaFamilial hypercholesterolemia (FH) is a most prevalent genetic disorder define as high cholesterol level and premature death. The prevalence of FH reported in few countries however unknown in Iran. Thus determine the FH patient, finding diagnostic strategy and appropriate treatment are important. We intent to use cascade method to screening patients, also our expected outputs are to develop and implement a registry program for FH patients and their families and to study their genetic disorder. FH patients will be followed from management, treatment and prevention of Cardio vascular disease in order to increase premature death.
MYOCARDIAL SILENT INFARCTIONS AND FIBROSIS IN FAMILIAL HYPERCHOLESTEROLEMIA (CHOLCOEUR)
Familial Hypercholesterolemia - HeterozygousPatients with familial hypercholesterolemia (FH) at high cardiovascular risk may suffer from silent micro-infarctions (MI) before clinical coronary heart disease manifestations because of the lifetime exposure to elevated serum LDL-cholesterol levels. The study aims to demonstrate the higher prevalence of silent myocardial infarction in a population of asymptomatic patients with familial hypercholesterolemia at high cardiovascular risk in comparison to control patients using Cardiac Magnetic Resonance sequences of delayed gadolinium enhancement.
A Registration Study for Familial Hypercholesterolemia in Taiwan
Familial HypercholesterolemiaFamilial hypercholesterolemia (FH) is an inherited disorder of lipoprotein metabolism, transmitted in an autosomal dominant manner and clinically characterized by elevated levels of total cholesterol (TC) and low-density lipoprotein (LDL) cholesterol, the presence of tendon xanthomas, and premature atherosclerosis. The homozygous form of familial hypercholesterolemia (HoFH) with autosomal dominant transmission, in which case both alleles of either LDLR, APOB, or PCSK9 gene are defective, is a rare genetic disorder with prevalence estimated to be one per million population. Large scale genetic screening for active FH cases finding has been performed in the Netherlands, Spain, Norway and Wales. However, the FH population and prevalence in Taiwan have never been formally studied. Patients are usually not under appropriate treatment owing to lack of standardized diagnostic tool and treatment strategy for FH. Moreover, with the emerging of new classes of LLTs, including microsomal triglyceride transfer protein (MTP) inhibitor, antisense oligonucleotide inhibitor, and PCSK9 inhibitors, even homozygous FH patients now have better chance to be treated to reach recommended treatment goals. Therefore, A National FH registry is needed to collect contemporary data on diagnosis, treatment and outcomes with long- term goals of improving diagnosis, management, and reduction of unnecessary cardiovascular events in FH population in Taiwan.
a Prospective Pilot Study of Screening Out Rate and Clinical Management of Familial Hypercholesterolemia...
Familial HypercholesterolemiaPrimary Objective To estimate the prevalence of clinical diagnosed familial hypercholesterolemia, as well as the clinical characteristics and current treatment, with applying China recent issued FH screening protocol in pilot outpatient department of China. Study Design The study is a prospective observational research study of clinical diagnoses FH patients in outpatient department in pilot hospitals to evaluate the screening out rate and the clinical feature and management of FH patients including HoFH, with applying China recent issued FH screening protocol. Eligibility 3.1.Inclusion Criteria Written inform consent provided. Male and female cardiovascular outpatients and inpatients with LDL-C>4.65mmol/L if statin naïve or LDL-C>3.7mmol/L if on statin treatment before enrollment during Sept.2017 to Sept. 2019. 3.2Exclusion Criteria Subjects who cannot understand study procedure Subjects diagnosed as secondary dyslipidemia Primary Endpoint The screening out rate of clinical diagnosed familial hypercholesterolemia, with applying China recent issued FH screening protocol in subjects with LDL-C>4.65mmol/L if statin naïve or LDL-C>3.7mmol/L if on statin treatment in pilot outpatient department of China. The clinical characteristics of clinical diagnosed FH patients(including HoFH and HeFH), including: demography, medical history, family history, sign and symptoms, lab testing and cardiovascular imagine result. The pharmaceutical therapy for clinical diagnosed FH patients (including HoFH and HeFH), including the type of medication, proportion for each medication, dosage and treatment duration.
Cardiovascular Disease in FH Heterozygous
Familial HypercholesterolemiaThe objective of this project is to establish the current prevalence of cardiovascular disease in adult subjects suffering from genetically diagnosed HF, and to know the impact that drug treatment has course in cardiovascular disease when compared with that of their affected parents with a much longer period of exposure to hypercholesterolemia
Familial Hypercholesterolemia Amongst Patients With Acute Coronary Syndrome
Familial HypercholesterolemiaCardiac Event1 moreFamilial hypercholesterolemia (FH) is a most prevalent genetic disorder, defines as high cholesterol level and premature death. The prevalence of FH has been reported in few countries however unknown in Iran. Thus recognize the FH patients, determine the diagnostic strategies and appropriate treatments are important. Also acute coronary syndrome (ACS) is a group of conditions which arises from reduction of blood flow in coronary arteries. Three specific conditions are included: ST elevation myocardial infarction, non ST elevation myocardial infarction and unstable angina. Premature ACS defined by occurrence of ACS<55 for men and ACS<60 for women. Studies demonstrated direct connection between familial hypercholesterolemia and occurrence of premature ACS. Investigators intent to detection of FH amongst patients with acute coronary syndrome.