Clinical Trial: The Spanish Familial Hypercholesterolaemia Cohort Study

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: The Spanish Familial Hypercholesterolaemia Cohort Study

Brief Summary: SAFEHEART is a large, on-going registry study in molecularly defined patients with heterozygous FH treated in Spain.

Detailed Summary:

Familiar hypercholesterolemia (FH) is the most common genetic disorder associated with the development of severe and premature coronary artery disease (CAD). The disorder is caused by mutations in the gene that encodes the low-density lipoprotein receptor (LDL-r), resulting in a lower expression of functional LDL-r in the liver. FH has autosomal dominant transmission with high penetrance and the prevalence of heterozygous individuals is one in 400 to 500 in the general population. To date, more than 800 different functional mutations of the LDL-r gene have been described worldwide, and more than 200 have been documented in Spain. In addition, a much less common disorder that resemble FH is familial defective apoB 100 disorder (FDB) produced by a mutation in the Apo B 100 gene. FDB accounts for a significant proportion of FH in some localized regions of Spain.

Life expectancy is shortened by 20 to 30 years in FH patients, and sudden death and myocardial infarction are the principal causes of death. The Simon Broome Register of FH in Great Britain, has shown that FH has a 100-fold increase in coronary mortality and a nearly 10-fold increase in total mortality, especially in young adults.

Since the 1990's, coronary mortality and total mortality in FH patients have decreased remarkably in part due to the use of more effective lipid-lowering therapy such as statins. The analysis of the Dutch FH cohort showed that an early treatment with statins after the diagnosis of the disorder leads to near normalisation of coronary heart disease risk comparable to the general population. Therefore, most of patients require an early, continuous and more intensive lipid-lowering therapy.

Despite the use of statins, this population still have a high risk for the development of premature CAD. Th
Sponsor: Fundación Hipercolesterolemia Familiar

Current Primary Outcome: Prognostic assessment: time to fatal or non-fatal cardiovascular event. [ Time Frame: up to 12 years ]

Time to first cardiovascular event: fatal or non-fatal myocardial infarction, fatal or non-fatal ischemic stroke, coronary revascularization, peripheral artery revascularization, aortic valve replacement or cardiovascular death.


Original Primary Outcome: Same as current

Current Secondary Outcome: LDL-cholesterol level (mg/dl) at entry and at follow-up [ Time Frame: up to12 years ]

LDL-cholesterol measurement at enrolment and after follow-up. At enrolment, a central core lab is in charge of the analysis. During follow-up, a yearly-based phone call is used to contact every subject and a complete lipid profile is obtained from the patient (obtained in his/her usual medical care).


Original Secondary Outcome: Same as current

Information By: Fundación Hipercolesterolemia Familiar

Dates:
Date Received: February 9, 2016
Date Started: January 2004
Date Completion: October 2017
Last Updated: February 23, 2016
Last Verified: February 2016