Genetic Causes of Familial Hypercholesterolemia
Summary
Familial hypercholesterolemia (FH) is a common disease. The genetic background to FH is not yet fully understood. In the present prospective cohort study we aim to study the association between different clinical characteristics, gene mutations and prognosis.
Description
In this prospective observational cohort study of patients with high clinical suspicion of familial hypercholesterolemia (FH) we aim to study the association between different clinical characteristics, gene mutations and prognosis.
The included patients will undergo physical examination and extended blood sampling. DNA will be extracted and used for both whole genome sequencing and investigation of both known- , unknown- and suspected mutations associated with FH.
The patients will be followed in for 15 years in the Swedish patients registry and the Swedish cause of death registry.
Study Design
Conditions
Familial Hypercholesterolemia
Intervention
No intervention
Location
Örebro University hospital
Örebro
Sweden
701 85
Status
Recruiting
Source
Region Örebro County
Results (where available)
Links
- Source: http://clinicaltrials.gov/show/NCT04101149
- ClinicalTrials.gov processed this data on September 26, 2019
Published on BioPortfolio: 2019-09-27T06:30:39-0400
Clinical Trials
Phase I Study of Ex Vivo Liver-Directed Gene Therapy for Familial Hypercholesterolemia
OBJECTIVES: I. Develop an approach for treating patients with homozygous familial hypercholesterolemia using gene therapy with autologous hepatocytes transduced with a normal low-density...
MYOCARDIAL SILENT INFARCTIONS AND FIBROSIS IN FAMILIAL HYPERCHOLESTEROLEMIA (CHOLCOEUR)
Patients with familial hypercholesterolemia (FH) at high cardiovascular risk may suffer from silent micro-infarctions (MI) before clinical coronary heart disease manifestations because of ...
IN-TANDEM Familial Hypercholesterolemia Pilot Study
The purpose of this study is to validate the use of an algorithm as a clinical decision support tool for identifying potential cases of familial hypercholesterolemia (FH) from electronic h...
Atherosclerosis in Familial Hypercholesterolemia
Familial hypercholesterolemia (FH) is a common inherited disorder with a frequency of 1 in 500 in the UK. Our aim is compare the carotid and coronary artery atherosclerosis in monogenic FH...
Study of REGN1500 in Patients With Homozygous Familial Hypercholesterolemia (HoFH)
This is an open-label, single-arm study to assess the reduction of low-density lipoprotein cholesterol (LDL-C) by REGN1500 in patients with homozygous familial hypercholesterolemia (HoFH).
PubMed Articles
Familial hypercholesterolemia is an autosomal-dominant disorder that often causes premature coronary artery disease. Unfortunately, familial hypercholesterolemia remains largely undiagnosed.
Assessment of individual cardiovascular risk, distinguishing primary and secondary prevention, would improve the clinical management of the population with familial hypercholesterolemia. We aimed to d...
Familial heterozygous hypercholesterolemia: a case report.
Іntroduction: Familial hypercholesterolemia (FH) is an autosomal dominant disorder, caused by the defect of the gene, encoding the structure and function of the receptor for the apoprotein B/E. Patie...
Monogenic, polygenic, and oligogenic familial hypercholesterolemia.
Familial hypercholesterolemia has long been considered a monogenic disorder. However, recent advances in genetic analyses have revealed various forms of this disorder, including polygenic and oligogen...
There are limited data from the US on outcomes of patients in specialty care for familial hypercholesterolemia (FH).
Medical and Biotech [MESH] Definitions
Controlled Before-after Studies
A study in which observations are made before and after an intervention, both in a group that receives the intervention and in a control group that does not.
Interrupted Time Series Analysis
A study that uses observations at multiple time points before and after an intervention (the "interruption"), in an attempt to detect whether the intervention has had an effect significantly greater than any underlying trend over time.
Amyloidosis, Familial
Diseases in which there is a familial pattern of AMYLOIDOSIS.
Cerebral Amyloid Angiopathy, Familial
A familial disorder marked by AMYLOID deposits in the walls of small and medium sized blood vessels of CEREBRAL CORTEX and MENINGES.
Familial Primary Pulmonary Hypertension
Familial or idiopathic hypertension in the PULMONARY CIRCULATION which is not secondary to other disease.
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