An observational study in Familial Hypercholesterolaemia, sponsored by Fundación Hipercolesterolemia Familiar. Recruiting at 1 site in Spain. Open to participants aged 15 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-09-04.
Sponsored by Fundación Hipercolesterolemia Familiar · Observational
Among 20 studies in Hyperlipoproteinemia Type II with a site in Spain — 5 open to participants now, 5 under way, 3 of them phase 3. Hyperlipoproteinemia Type II · Spain.
Among the 20 studies in Hyperlipoproteinemia Type II with a site in Spain, this one is the only one that started in 2004, is one of 4 observational ones, and was the 10th registered.
249 studies on the registry are indexed under Hyperlipoproteinemia Type II; 56 are open to participants now.
Browse Hyperlipoproteinemia Type II studies →5 of the 20 studies in Hyperlipoproteinemia Type II with a site in Spain are open now. Recruiting first, the newest first:
Merck Sharp & Dohme LLC · Sites in Spain, United States, Australia and 17 more countries
Ages 6–17
Novartis Pharmaceuticals · Sites in Spain, United States, Argentina and 20 more countries
Ages 6–11
Novartis Pharmaceuticals · Sites in Spain, United States, Argentina and 23 more countries
Ages 2–100
Institut Investigacio Sanitaria Pere Virgili · Sites in Spain
Ages 2–18
A study can be open while its sites in Spain have not opened yet or have stopped. Only those recruiting at a site in Spain →
Of the 36 Hyperlipoproteinemia Type II studies recruiting now, 17 (47%) set no upper age limit and 15 (42%) stop at 75 or younger; 17 take children under 18; 5 take healthy volunteers.
This study: 15 Years and older · all sexes · healthy volunteers too.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
20 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 2 4 · Phase 3 14 · Phase 4 1
First in 2004; this study’s year is marked. 1 started in 2004.
By drug class, each counting the studies that test any of its medicines:
This study's planned enrollment of 4,141 is above the median of 770 across 64 observational studies indexed under Hyperlipoproteinemia Type II.
Median enrollment 168 across the 16 interventional studies, 1,000 across the 4 observational. Of the 13 that completed or were terminated, 11 (85%) have results posted.
This tab as a report to print or save as PDF → With an account.
15 of 20 have an industry lead sponsor. The 10 most frequent:
Fundación Hipercolesterolemia Familiar is the lead sponsor of 2 studies on the registry; 1 is open to participants now.
Fundación Hipercolesterolemia Familiar has 2 studies filed under Hyperlipoproteinemia Type II — fewer than ten, so there is no comparison to draw.
None of the studies under way reaches primary completion within a year.
Among the 20 studies in Hyperlipoproteinemia Type II with a site in Spain, from their registry updates:
Nothing recorded among them since 2026-09-25.
This tab as a report to print or save as PDF → With an account.
SAFEHEART is a large, on-going registry study in molecularly defined patients with heterozygous FH treated in Spain.
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.
Index cases with genetic diagnosis of FH and their relatives over 15 years old with a genetic diagnosis of FH and their unaffected relatives
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Index cases with genetic diagnosis of FH and their relatives over 15 years old with a genetic diagnosis of FH.
Relatives of FH patients without FH (genetically defined)
Prognostic assessment: time to fatal or non-fatal cardiovascular event.
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.
Time frame: up to 12 years
LDL-cholesterol level (mg/dl) at entry and at follow-up
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).
Time frame: up to12 years
Plan to share: Undecided — Available access for publication
Started Jan 2004 (actual). Primary completion is estimated for Oct 2030, 321 months after the start.
Of 32 observational studies under Hyperlipoproteinemia Type II, half reached primary completion within 76 months of starting (the median), counting those still running; a quarter within 23. This study's planned 321 months is above that.
How these figures are worked out, and which studies are left out of them.
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Hyperlipoproteinemia Type II →
Fundación Hipercolesterolemia Familiar