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Clinical Trial Summary

Familial hypobetalipoproteinemia (FHBL, OMIM # 1707730) is a genetic disorder heterozygotic of LDL-C metabolism. Clinical manifestation range from asymptomatic patients to metabolic (fatty liver, diabetes) or psychiatric disorders still unrecognized. HYPOPSY research, aims to evaluate prevalence of hypobetalipoproteinemia, and to characterize specific related psychiatric disorders.


Clinical Trial Description

Familial hypobetalipoproteinemia (FHBL, OMIM # 1707730) is a genetic disorder heterozygotic of LDL-C metabolism (Low Density Lipoprotein - Cholesterol) whose incidence is measured from 1: 500 to 1: 1000. These heterozygous individuals may be asymptomatic or present some clinical (fatty liver, diabetes) or psychiatric manifestations still unrecognized. Moreover, these individuals have mostly a longevity syndrome and cardiovascular protection. The FHBL is often due to mutations of the APOB (APOlipoprotein B), major component of LDL, VLDL (Very Low Density Lipoprotein) and chylomicrons, and in some cases, loss-of-function mutations of the serine protease PCSK9, endogenous inhibitor of the LDL receptor.

HYPOPSY research, aims to evaluate, in a population with psychiatric disorders, the prevalence of hypobetalipoproteinemia, and to characterize specific related psychiatric disorders. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT02889614
Study type Observational
Source Nantes University Hospital
Contact
Status Completed
Phase N/A
Start date May 2015
Completion date July 31, 2015

See also
  Status Clinical Trial Phase
Active, not recruiting NCT02354079 - HYPOCHOL : A Genetically-based Strategy to Identify New Targets in Cholesterol Metabolism N/A
Completed NCT00005565 - Mechanisms of Low Levels of Apolipoprotein B N/A