Hypobetalipoproteinemia Clinical Trial
Official title:
Prevalence Assessment and Characterization of Psychological Disorders Associated With Hypobetalipoproteinemia
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.
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.
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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 |