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Trial record 2 of 77 for:    Recruiting, Not yet recruiting, Available Studies | "Hypercholesterolemia"

The Spanish Familial Hypercholesterolaemia Cohort Study (SAFEHEART)

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ClinicalTrials.gov Identifier: NCT02693548
Recruitment Status : Recruiting
First Posted : February 26, 2016
Last Update Posted : August 21, 2018
Sponsor:
Collaborators:
Instituto de Salud Carlos III
Fundación Centro Nacional de Investigaciones Cardiovasculares Carlos III
Information provided by (Responsible Party):
Fundación Hipercolesterolemia Familiar

Tracking Information
First Submitted Date February 9, 2016
First Posted Date February 26, 2016
Last Update Posted Date August 21, 2018
Study Start Date January 2004
Estimated Primary Completion Date October 2020   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: February 23, 2016)
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 Measures Same as current
Change History Complete list of historical versions of study NCT02693548 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: February 23, 2016)
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 Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title The Spanish Familial Hypercholesterolaemia Cohort Study
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 Description

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. Therefore, the need to study the relatives of a known FH case, know as cascade screening, is essential to detect those cases that are younger, probably with a less severe form of FH and are not receiving treatment to prevent cardiovascular disease development.

Although the genetic defect is probably the most important factor in the clinical expression of FH, other genetic (gene-gene interactions), environmental (particularly those relating to diet, tobacco consumption and physical activity) and metabolic factors could play an important role in modulating the atherosclerotic burden in this population.

To gain insight into the prognostic factors and mechanisms that influence the development of CAD and mortality in FH, a long-term prospective follow-up of a molecularly well-defined FH cohort using a multidisciplinary approach is necessary. This cohort is an excellent tool of translational research to evaluate and determine the principal prognostic factors related to CAD morbidity and mortality.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
Description:
Venous blood samples were taken after 12 hours of fasting. Serum, plasma and DNA samples were aliquoted and preserved at -80°C. Serum total cholesterol, triglycerides and HDL-cholesterol levels were measured in a centralized laboratory using enzymatic methods
Sampling Method Non-Probability Sample
Study Population Index cases with genetic diagnosis of FH and their relatives over 15 years old with a genetic diagnosis of FH and their unaffected relatives
Condition Familial Hypercholesterolaemia
Intervention Not Provided
Study Groups/Cohorts
  • Familial hypercholesterolaemia patients
    Index cases with genetic diagnosis of FH and their relatives over 15 years old with a genetic diagnosis of FH.
  • Unaffected relatives
    Relatives of FH patients without FH (genetically defined)
Publications *

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Recruiting
Estimated Enrollment
 (submitted: February 23, 2016)
4141
Original Estimated Enrollment Same as current
Estimated Study Completion Date October 2020
Estimated Primary Completion Date October 2020   (Final data collection date for primary outcome measure)
Eligibility Criteria

Inclusion Criteria:

  • Index cases with genetic diagnosis of FH and their relatives over 15 years old with a genetic diagnosis of FH and their first-degree relatives

Exclusion Criteria:

  • Patient unwillingness
Sex/Gender
Sexes Eligible for Study: All
Ages 15 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers Yes
Contacts
Contact: Pedro Mata, MD 0034915570071 pmata@colesterolfamiliar.org
Contact: Leopoldo Perez de Isla, MD 0034609084225 leopisla@hotmail.com
Listed Location Countries Spain
Removed Location Countries  
 
Administrative Information
NCT Number NCT02693548
Other Study ID Numbers SAFEHEART
Has Data Monitoring Committee Yes
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: Undecided
Plan Description: Available access for publication
Responsible Party Fundación Hipercolesterolemia Familiar
Study Sponsor Fundación Hipercolesterolemia Familiar
Collaborators
  • Instituto de Salud Carlos III
  • Fundación Centro Nacional de Investigaciones Cardiovasculares Carlos III
Investigators
Study Chair: Pedro Mata, MD Fundacion Hipercolesterolemia Familiar
PRS Account Fundación Hipercolesterolemia Familiar
Verification Date August 2018