Cardiovascular Disease in FH Heterozygous

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2014 by Sociedad Española de Arteriosclerosis
Sponsor:
Collaborators:
Hospital Miguel Servet
University of Zaragoza
Information provided by (Responsible Party):
Sociedad Española de Arteriosclerosis
ClinicalTrials.gov Identifier:
NCT01783405
First received: January 29, 2013
Last updated: June 7, 2014
Last verified: June 2014

January 29, 2013
June 7, 2014
February 2013
December 2014   (final data collection date for primary outcome measure)
Age first cardiovascular event [ Time Frame: Baseline ] [ Designated as safety issue: No ]
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
Same as current
Complete list of historical versions of study NCT01783405 on ClinicalTrials.gov Archive Site
  • Age first stroke [ Time Frame: Baseline ] [ Designated as safety issue: No ]
  • Age first coronary event [ Time Frame: Baseline ] [ Designated as safety issue: No ]
  • Age first peripheral vascular disease [ Time Frame: Baseline ] [ Designated as safety issue: No ]
  • Age diagnosis aortic aneurysm [ Time Frame: Baseline ] [ Designated as safety issue: No ]
Same as current
Not Provided
Not Provided
 
Cardiovascular Disease in FH Heterozygous
Cardiovascular Disease in FH Heterozygous

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

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.

Observational
Observational Model: Case Control
Time Perspective: Retrospective
Not Provided
Not Provided
Non-Probability Sample

Heterozygous FH from the Lipid Units of the Sociedad Española de Arteriosclerosis (Spanish Atherosclerosis Society)

Familial Hypercholesterolemia
Not Provided
  • Cases
    FH heterozygous
  • Controls
    Parents of FH heterozygotes with FH
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruiting
1100
December 2014
December 2014   (final data collection date for primary outcome measure)

Inclusion Criteria:

  • Age ≥ 30 and ≤ 70
  • cLDL ≥ 95th percentile
  • Functional mutation in LDLR or APOB in the proband or first degreee relative
  • At least 10 years on statin treatment
  • Lipid values and cardiovascular status of both parents

Exclusion Criteria:

  • Same gender afected brothers of probands
  • Homozygous FH
Both
30 Years to 70 Years
No
Contact: Fernando Civeira, MD, PhD 34976765500 ext 2884 civeira@unizar.es
Spain
 
NCT01783405
D3560L00137
Yes
Sociedad Española de Arteriosclerosis
Sociedad Española de Arteriosclerosis
  • Hospital Miguel Servet
  • University of Zaragoza
Principal Investigator: Fernando Civeira, MD, PhD Universidad de Zaragoza
Sociedad Española de Arteriosclerosis
June 2014

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP