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
  Purpose

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


Condition
Familial Hypercholesterolemia

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Retrospective
Official Title: Cardiovascular Disease in FH Heterozygous

Resource links provided by NLM:


Further study details as provided by Sociedad Española de Arteriosclerosis:

Primary Outcome Measures:
  • 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


Secondary Outcome Measures:
  • 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 ]

Estimated Enrollment: 1100
Study Start Date: February 2013
Estimated Study Completion Date: December 2014
Estimated Primary Completion Date: December 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts
Cases
FH heterozygous
Controls
Parents of FH heterozygotes with FH

Detailed Description:

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.

  Eligibility

Ages Eligible for Study:   30 Years to 70 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

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

Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01783405

Contacts
Contact: Fernando Civeira, MD, PhD 34976765500 ext 2884 civeira@unizar.es

Locations
Spain
Hospital San Jorge Recruiting
Huesca, Spain
Contact: Jose Puzo, MD, PhD         
Hospital Universitario Miguel Servet Recruiting
Zaragoza, Spain, 50009
Contact: Fernando Civeira, MD, PhD    34 976765500 ext 2884    civeira@unizar.es   
Sub-Investigator: Sofia Perez-Calahorra         
Sub-Investigator: Rocio Mateo-Gallego         
Sub-Investigator: Estibaliz Jarauta, MD         
Sub-Investigator: Ana Cenarro, PhD         
Hospital Royo Villanova Recruiting
Zaragoza, Spain
Contact: Juan Ferrando, MD         
Sponsors and Collaborators
Sociedad Española de Arteriosclerosis
Hospital Miguel Servet
University of Zaragoza
Investigators
Principal Investigator: Fernando Civeira, MD, PhD Universidad de Zaragoza
  More Information

No publications provided

Responsible Party: Sociedad Española de Arteriosclerosis
ClinicalTrials.gov Identifier: NCT01783405     History of Changes
Other Study ID Numbers: D3560L00137
Study First Received: January 29, 2013
Last Updated: June 7, 2014
Health Authority: Spain: Spanish Agency of Medicines

Keywords provided by Sociedad Española de Arteriosclerosis:
LDLR mutation
Statin
Cardiovascular disease

Additional relevant MeSH terms:
Cardiovascular Diseases
Hypercholesterolemia
Hyperlipoproteinemia Type II
Hyperlipidemias
Dyslipidemias
Lipid Metabolism Disorders
Metabolic Diseases
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Hyperlipoproteinemias

ClinicalTrials.gov processed this record on September 18, 2014