Familial HypercholesterolaemiaSAFEHEARTNCT02693548
The Spanish Familial Hypercholesterolaemia Cohort Study
An observational study of Familial Hypercholesterolaemia, run by Fundación Hipercolesterolemia Familiar at 1 site in Spain.
Trial summary
SAFEHEART is a large, on-going registry study in molecularly defined patients with heterozygous FH treated in Spain. Read more about this study
- Who is it for?
- Ages 15 years and olderHealthy volunteers can take part
- Conditions the study is for
- Familial Hypercholesterolaemia
- How many people
- 4,141 participants
- Where
- 1 siteSpain
- Study dates
- Jan 2004to Oct 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 15 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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
Who may be able to join
- 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
Who cannot join
- Patient unwillingness
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Spain1 site, 1 recruiting
- Recruiting
Fundacion Hipercolesterolemia Familiar
Madrid, Madrid, 28010
Pedro Mata, MD, 0034915 570 071, fhfsecretaria@colesterolfamiliar.org
Leopoldo Perez de Isla, MD, 0034609084225, leopisla@hotmail.com
About this study
SAFEHEART is a large, on-going registry study in molecularly defined patients with heterozygous FH treated in Spain.
Read the 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.
- Conditions
- Familial Hypercholesterolaemia
- Keywords
- Familial Hypercholesterolaemia, Prognosis, Cardiovascular disease
- Medical subject headings
- Hyperlipoproteinemia Type II, Cardiovascular Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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) |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: up to 12 years
Secondary outcomes (1)
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).
Measured: up to12 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Feb 2016 (estimated)
- Study startJan 2004
- Primary completionOct 2030 (estimated)
- Study completionOct 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (30)Papers the sponsor has linked to this study.
- Other trials for Familial HypercholesterolaemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 4,141 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Fundación Hipercolesterolemia Familiar
- Sponsor type
- University, hospital or other
- Collaborators
- Instituto de Salud Carlos III, Fundación Centro Nacional de Investigaciones Cardiovasculares Carlos III
- Responsible party
- Sponsor
- Investigators
- Pedro Mata, MD, Study chair, Fundacion Hipercolesterolemia Familiar
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02693548
- Sponsor's protocol ID
- SAFEHEART
- Acronym
- SAFEHEART
- Status last verified
- Sep 2026
- First submitted
- 9 Feb 2016
- Last updated
- 4 Sep 2026
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- Undecided: Available access for publication
Publications
Vallejo-Vaz AJ, Kondapally Seshasai SR, Cole D, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Akram A, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Corral P, Descamps O, Dieplinger H, Durst R, Freiberger T, Gaspar IM, Genest J, Harada-Shiba M, Jiang L, Kayikcioglu M, Lam CS, Latkovskis G, Laufs U, Liberopoulos E, Nilsson L, Nordestgaard BG, O'Donoghue JM, Sahebkar A, Schunkert H, Shehab A, Stoll M, Su TC, Susekov A, Widen E, Catapano AL, Ray KK. Familial hypercholesterolaemia: A global call to arms. Atherosclerosis. 2015 Nov;243(1):257-9. doi: 10.1016/j.atherosclerosis.2015.09.021. Epub 2015 Sep 18. No abstract available.
PubMed 26408930Fuentes F, Alcala-Diaz JF, Watts GF, Alonso R, Muniz O, Diaz-Diaz JL, Mata N, Sanchez Munoz-Torrero JF, Brea A, Galiana J, Figueras R, Aguado R, Piedecausa M, Cepeda JM, Vidal JI, Rodriguez-Cantalejo F, Lopez-Miranda J, Mata P; SAFEHEART Investigators. Statins do not increase the risk of developing type 2 diabetes in familial hypercholesterolemia: The SAFEHEART study. Int J Cardiol. 2015 Dec 15;201:79-84. doi: 10.1016/j.ijcard.2015.07.107. Epub 2015 Aug 5.
PubMed 26296047Alonso R, Andres E, Mata N, Fuentes-Jimenez F, Badimon L, Lopez-Miranda J, Padro T, Muniz O, Diaz-Diaz JL, Mauri M, Ordovas JM, Mata P; SAFEHEART Investigators. Lipoprotein(a) levels in familial hypercholesterolemia: an important predictor of cardiovascular disease independent of the type of LDL receptor mutation. J Am Coll Cardiol. 2014 May 20;63(19):1982-9. doi: 10.1016/j.jacc.2014.01.063. Epub 2014 Mar 13.
PubMed 24632281Alonso R, Mata P, Zambon D, Mata N, Fuentes-Jimenez F. Early diagnosis and treatment of familial hypercholesterolemia: improving patient outcomes. Expert Rev Cardiovasc Ther. 2013 Mar;11(3):327-42. doi: 10.1586/erc.13.7.
PubMed 23469913Aledo R, Alonso R, Mata P, Llorente-Cortes V, Padro T, Badimon L. LRP1 gene polymorphisms are associated with premature risk of cardiovascular disease in patients with familial hypercholesterolemia. Rev Esp Cardiol (Engl Ed). 2012 Sep;65(9):807-12. doi: 10.1016/j.recesp.2012.03.013. Epub 2012 Jul 20. English, Spanish.
PubMed 22819221Vazquez C, Alonso R, Garriga M, de Cos A, de la Cruz JJ, Fuentes-Jimenez F, Salas-Salvado J, Mata P. Validation of a food frequency questionnaire in Spanish patients with familial hypercholesterolaemia. Nutr Metab Cardiovasc Dis. 2012 Oct;22(10):836-42. doi: 10.1016/j.numecd.2011.01.007. Epub 2011 Jun 23.
PubMed 21703832Mata N, Alonso R, Badimon L, Padro T, Fuentes F, Muniz O, Perez-Jimenez F, Lopez-Miranda J, Diaz JL, Vidal JI, Barba A, Piedecausa M, Sanchez JF, Irigoyen L, Guallar E, Ordovas JM, Mata P. Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART). Lipids Health Dis. 2011 Jun 10;10:94. doi: 10.1186/1476-511X-10-94.
PubMed 21663647Criado-Garcia J, Fuentes F, Cruz-Teno C, Garcia-Rios A, Jimenez-Morales A, Delgado-Lista J, Mata P, Alonso R, Lopez-Miranda J, Perez-Jimenez F; Spanish Group for the Study of Familiar Hypercholesterolemia. R353Q polymorphism in the factor VII gene and cardiovascular risk in Heterozygous Familial Hypercholesterolemia: a case-control study. Lipids Health Dis. 2011 Apr 9;10:50. doi: 10.1186/1476-511X-10-50.
PubMed 21477332Garcia-Rios A, Perez-Martinez P, Mata P, Fuentes F, Lopez-Miranda J, Alonso R, Caballero J, Mata N, Perez-Jimenez F, Ordovas JM. Polymorphism at the TRIB1 gene modulates plasma lipid levels: insight from the Spanish familial hypercholesterolemia cohort study. Nutr Metab Cardiovasc Dis. 2011 Dec;21(12):957-63. doi: 10.1016/j.numecd.2010.04.002. Epub 2010 Aug 6.
PubMed 20692138Zambon D, Quintana M, Mata P, Alonso R, Benavent J, Cruz-Sanchez F, Gich J, Pocovi M, Civeira F, Capurro S, Bachman D, Sambamurti K, Nicholas J, Pappolla MA. Higher incidence of mild cognitive impairment in familial hypercholesterolemia. Am J Med. 2010 Mar;123(3):267-74. doi: 10.1016/j.amjmed.2009.08.015.
PubMed 20193836Garcia-Rios A, Perez-Martinez P, Fuentes F, Mata P, Lopez-Miranda J, Alonso R, Rodriguez F, Garcia-Olid A, Ruano J, Ordovas JM, Perez-Jimenez F. Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia. Atherosclerosis. 2010 Jun;210(2):486-92. doi: 10.1016/j.atherosclerosis.2010.01.010. Epub 2010 Jan 22.
PubMed 20172523Alonso R, Defesche JC, Tejedor D, Castillo S, Stef M, Mata N, Gomez-Enterria P, Martinez-Faedo C, Forga L, Mata P. Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. Clin Biochem. 2009 Jun;42(9):899-903. doi: 10.1016/j.clinbiochem.2009.01.017. Epub 2009 Feb 6.
PubMed 19318025Alonso R, Mata N, Castillo S, Fuentes F, Saenz P, Muniz O, Galiana J, Figueras R, Diaz JL, Gomez-Enterria P, Mauri M, Piedecausa M, Irigoyen L, Aguado R, Mata P; Spanish Familial Hypercholesterolaemia Group. Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors. Atherosclerosis. 2008 Oct;200(2):315-21. doi: 10.1016/j.atherosclerosis.2007.12.024. Epub 2008 Feb 20.
PubMed 18243212Merino-Ibarra E, Castillo S, Mozas P, Cenarro A, Martorell E, Diaz JL, Suarez-Tembra M, Alonso R, Civeira F, Mata P, Pocovi M; Spanish Group of Familial Hypercholesterolemia. Screening of APOB gene mutations in subjects with clinical diagnosis of familial hypercholesterolemia. Hum Biol. 2005 Oct;77(5):663-73.
PubMed 16596945Civeira F, Castillo S, Alonso R, Merino-Ibarra E, Cenarro A, Artied M, Martin-Fuentes P, Ros E, Pocovi M, Mata P; Spanish Familial Hypercholesterolemia Group. Tendon xanthomas in familial hypercholesterolemia are associated with cardiovascular risk independently of the low-density lipoprotein receptor gene mutation. Arterioscler Thromb Vasc Biol. 2005 Sep;25(9):1960-5. doi: 10.1161/01.ATV.0000177811.14176.2b. Epub 2005 Jul 14.
PubMed 16020744
Study at a glance
From the registry record, last updated by the sponsor on 4 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Spanish Familial Hypercholesterolaemia Cohort Study
- ClinicalTrials.gov ID
- NCT02693548
- Acronym / sponsor ID
- SAFEHEART / SAFEHEART
- Conditions
- Familial Hypercholesterolaemia
- Keywords
- Familial Hypercholesterolaemia, Prognosis, Cardiovascular disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 4,141 participants (estimated)
- Lead sponsor
- Fundación Hipercolesterolemia FamiliarUniversity, hospital or other
- Collaborators
- Instituto de Salud Carlos III, Fundación Centro Nacional de Investigaciones Cardiovasculares Carlos III
- Study start
- Jan 2004 (actual)
- Primary completion
- Oct 2030 (estimated)
- Study completion
- Oct 2030 (estimated)
- First posted
- 26 Feb 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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) |
Who may qualify
- Ages
- 15 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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
Key inclusion criteria (1 listed)
- 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
Key exclusion criteria (1 listed)
- Patient unwillingness
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
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.
1 secondary outcome
LDL-cholesterol level (mg/dl) at entry and at follow-up
Time frame: up to12 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Sep 2026.
- Background: PubMed 26408930Vallejo-Vaz AJ, Kondapally Seshasai SR, Cole D, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Akram A, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Corral P, Descamps O, Dieplinger H, Durst R, Freiberger T, Gaspar IM, Genest J, Harada-Shiba M, Jiang L, Kayikcioglu M, Lam CS, Latkovskis G, Laufs U, Liberopoulos E, Nilsson L, Nordestgaard BG, O'Donoghue JM, Sahebkar A, Schunkert H, Shehab A, Stoll M, Su TC, Susekov A, Widen E, Catapano AL, Ray KK. Familial hypercholesterolaemia: A global call to arms. Atherosclerosis. 2015 Nov;243(1):257-9. doi: 10.1016/j.atherosclerosis.2015.09.021. Epub 2015 Sep 18. No abstract available.
- Background: PubMed 26296047Fuentes F, Alcala-Diaz JF, Watts GF, Alonso R, Muniz O, Diaz-Diaz JL, Mata N, Sanchez Munoz-Torrero JF, Brea A, Galiana J, Figueras R, Aguado R, Piedecausa M, Cepeda JM, Vidal JI, Rodriguez-Cantalejo F, Lopez-Miranda J, Mata P; SAFEHEART Investigators. Statins do not increase the risk of developing type 2 diabetes in familial hypercholesterolemia: The SAFEHEART study. Int J Cardiol. 2015 Dec 15;201:79-84. doi: 10.1016/j.ijcard.2015.07.107. Epub 2015 Aug 5.
- Background: PubMed 24632281Alonso R, Andres E, Mata N, Fuentes-Jimenez F, Badimon L, Lopez-Miranda J, Padro T, Muniz O, Diaz-Diaz JL, Mauri M, Ordovas JM, Mata P; SAFEHEART Investigators. Lipoprotein(a) levels in familial hypercholesterolemia: an important predictor of cardiovascular disease independent of the type of LDL receptor mutation. J Am Coll Cardiol. 2014 May 20;63(19):1982-9. doi: 10.1016/j.jacc.2014.01.063. Epub 2014 Mar 13.
- Background: PubMed 23469913Alonso R, Mata P, Zambon D, Mata N, Fuentes-Jimenez F. Early diagnosis and treatment of familial hypercholesterolemia: improving patient outcomes. Expert Rev Cardiovasc Ther. 2013 Mar;11(3):327-42. doi: 10.1586/erc.13.7.
- Background: PubMed 22819221Aledo R, Alonso R, Mata P, Llorente-Cortes V, Padro T, Badimon L. LRP1 gene polymorphisms are associated with premature risk of cardiovascular disease in patients with familial hypercholesterolemia. Rev Esp Cardiol (Engl Ed). 2012 Sep;65(9):807-12. doi: 10.1016/j.recesp.2012.03.013. Epub 2012 Jul 20. English, Spanish.
- Background: PubMed 21703832Vazquez C, Alonso R, Garriga M, de Cos A, de la Cruz JJ, Fuentes-Jimenez F, Salas-Salvado J, Mata P. Validation of a food frequency questionnaire in Spanish patients with familial hypercholesterolaemia. Nutr Metab Cardiovasc Dis. 2012 Oct;22(10):836-42. doi: 10.1016/j.numecd.2011.01.007. Epub 2011 Jun 23.
- Background: PubMed 21663647Mata N, Alonso R, Badimon L, Padro T, Fuentes F, Muniz O, Perez-Jimenez F, Lopez-Miranda J, Diaz JL, Vidal JI, Barba A, Piedecausa M, Sanchez JF, Irigoyen L, Guallar E, Ordovas JM, Mata P. Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART). Lipids Health Dis. 2011 Jun 10;10:94. doi: 10.1186/1476-511X-10-94.
- Background: PubMed 21477332Criado-Garcia J, Fuentes F, Cruz-Teno C, Garcia-Rios A, Jimenez-Morales A, Delgado-Lista J, Mata P, Alonso R, Lopez-Miranda J, Perez-Jimenez F; Spanish Group for the Study of Familiar Hypercholesterolemia. R353Q polymorphism in the factor VII gene and cardiovascular risk in Heterozygous Familial Hypercholesterolemia: a case-control study. Lipids Health Dis. 2011 Apr 9;10:50. doi: 10.1186/1476-511X-10-50.
- Background: PubMed 20692138Garcia-Rios A, Perez-Martinez P, Mata P, Fuentes F, Lopez-Miranda J, Alonso R, Caballero J, Mata N, Perez-Jimenez F, Ordovas JM. Polymorphism at the TRIB1 gene modulates plasma lipid levels: insight from the Spanish familial hypercholesterolemia cohort study. Nutr Metab Cardiovasc Dis. 2011 Dec;21(12):957-63. doi: 10.1016/j.numecd.2010.04.002. Epub 2010 Aug 6.
- Background: PubMed 20193836Zambon D, Quintana M, Mata P, Alonso R, Benavent J, Cruz-Sanchez F, Gich J, Pocovi M, Civeira F, Capurro S, Bachman D, Sambamurti K, Nicholas J, Pappolla MA. Higher incidence of mild cognitive impairment in familial hypercholesterolemia. Am J Med. 2010 Mar;123(3):267-74. doi: 10.1016/j.amjmed.2009.08.015.
- Background: PubMed 20172523Garcia-Rios A, Perez-Martinez P, Fuentes F, Mata P, Lopez-Miranda J, Alonso R, Rodriguez F, Garcia-Olid A, Ruano J, Ordovas JM, Perez-Jimenez F. Genetic variations at ABCG5/G8 genes modulate plasma lipids concentrations in patients with familial hypercholesterolemia. Atherosclerosis. 2010 Jun;210(2):486-92. doi: 10.1016/j.atherosclerosis.2010.01.010. Epub 2010 Jan 22.
- Background: PubMed 19318025Alonso R, Defesche JC, Tejedor D, Castillo S, Stef M, Mata N, Gomez-Enterria P, Martinez-Faedo C, Forga L, Mata P. Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform. Clin Biochem. 2009 Jun;42(9):899-903. doi: 10.1016/j.clinbiochem.2009.01.017. Epub 2009 Feb 6.
- Individual participant dataSharing planned: Undecided. Available access for publication
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Pedro Mata, MD study chair
Fundacion Hipercolesterolemia Familiar
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Hypercholesterolaemia, run by Fundación Hipercolesterolemia Familiar at 1 site in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 4 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Pedro Mata, MD (0034915570071, pmata@colesterolfamiliar.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prognostic assessment: time to fatal or non-fatal cardiovascular event. (time frame: up to 12 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02693548, which also lists 30 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Sep 2026.