Cardiovascular Disease in FH Heterozygous
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT01783405|
Recruitment Status : Unknown
Verified June 2014 by Sociedad Española de Arteriosclerosis.
Recruitment status was: Recruiting
First Posted : February 4, 2013
Last Update Posted : June 10, 2014
|Condition or disease|
Familial hypercholesterolemia (FH) is the most common autosomal dominant disease in most countries, including Spain. Its prevalence is estimated at one in every 350-500 people being higher in certain areas with certain genetic isolation as French Canadians, Christian Lebanese, or "Afrikaners" in South Africa. The HF is characterized by a very high concentration of LDL cholesterol, familial autosomal dominant pattern, tendon xanthomas and increased risk of premature coronary disease. Without drug treatment, approximately 50% of men before age 50 years and the same percentage in women before age 60 will suffer a serious manifestation of cardiovascular disease. It has been estimated that HF limits life expectancy about 20 years for males and about 12 years for women, so that effective treatment is a priority in cardiovascular prevention. Most cases of HF are caused by mutations in the gene encoding the receptor of LDL particles (LDLR). More than 1000 different mutations in the LDLR gene (LDLR) have been described as the cause of HF, many of them specific to a territory or population group. In Spain we have described 235 different mutations and is one of the best studied populations in the world from the genetic point of view. This is because in Spain we have an efficient tool for genetic diagnosis of HF, referred Lipochip ® (Progenika Biopharma, Derio, Vizcaya), and allows us to be pioneers in the world in the diagnosis and treatment of HF.
Most cases of HF in Spain, and especially the cases with a genetic diagnosis, which represents the true diagnosis, are controlled by the Lipid Unit network of the Spanish Atherosclerosis Society (SEA) distributed throughout the national territory, and in many cases using homogeneous clinical criteria for the clinical management of these patients. For the above reasons the SEA is the ideal setting for studies in a wide range of subjects with HF, especially those requiring an accurate diagnosis. The advent of statins has been a landmark for people suffering from HF. Since the late 80s of last century we have this class of drugs. They have reduced and almost normalized LDL concentrations in FH and have substantively altered the natural progression of the disease. However, the health impact brought about by the statins in HF is unknown. Indirect data from the UK Simon Broome Register suggest that subjects with HF now have a better prognosis than 20 years ago but that register has many limitations that make difficult to know the real impact of the treatment.
Retrospective, obervacional, multicenter, based on Lipid Units of the Sociedad Española de Arteriosclerosis.
Our hypothesis is that statins have improved cardiovascular prognosis in recent years in heterozygous FH subjects. The objective of this project is to establish the current prevalence of cardiovascular disease in adult subjects suffering from genetically diagnosed HF, and to know the impact that drug treatment has course in cardiovascular disease when compared with that of their affected parents with a much longer period of exposure to hypercholesterolemia.
To establish the current prevalence of cardiovascular disease in adult subjects suffering from genetically diagnosed HF
To know the impact that drug treatment has resulted in cardiovascular disease when compared with that of their affected parents with a longer period of exposure to hypercholesterolemia.
|Study Type :||Observational|
|Estimated Enrollment :||1100 participants|
|Observational Model:||Case Control|
|Official Title:||Cardiovascular Disease in FH Heterozygous|
|Study Start Date :||February 2013|
|Estimated Primary Completion Date :||December 2014|
|Estimated Study Completion Date :||December 2014|
Parents of FH heterozygotes with FH
- Age first cardiovascular event [ Time Frame: Baseline ]Age of first cardiovascular event is considered at the time of the last visit at the lipid clinic. Inclusion in the study has to be done within 6 moths from the last visit
- Age first stroke [ Time Frame: Baseline ]
- Age first coronary event [ Time Frame: Baseline ]
- Age first peripheral vascular disease [ Time Frame: Baseline ]
- Age diagnosis aortic aneurysm [ Time Frame: Baseline ]
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01783405
|Contact: Fernando Civeira, MD, PhD||34976765500 ext firstname.lastname@example.org|
|Hospital San Jorge||Recruiting|
|Contact: Jose Puzo, MD, PhD|
|Hospital Universitario Miguel Servet||Recruiting|
|Zaragoza, Spain, 50009|
|Contact: Fernando Civeira, MD, PhD 34 976765500 ext 2884 email@example.com|
|Sub-Investigator: Sofia Perez-Calahorra|
|Sub-Investigator: Rocio Mateo-Gallego|
|Sub-Investigator: Estibaliz Jarauta, MD|
|Sub-Investigator: Ana Cenarro, PhD|
|Hospital Royo Villanova||Recruiting|
|Contact: Juan Ferrando, MD|
|Principal Investigator:||Fernando Civeira, MD, PhD||Universidad de Zaragoza|