Familial Hypobetalipoproteinaemia - Heterozygous Form Clinical Trial
Official title:
Characterization of Two Novel Truncating Mutations in the Apob Gene Leading to Hypobetalipoproteinemia: A Pilot Study
The pilot study has the target to evaluate the outcomes of two novel mutations in the gene of
Apolipoprotein B (ApoB). ApoB is the main part of the low-density lipoprotein (LDL). LDL is
the main transporter of cholesterol from the liver to the periphery. The two novel mutations
lead to a heavily truncated Apolipoprotein B. Therefore the patients show severely decreased
ApoB and LDL-Cholesterol levels. The acquired disease is known as "Familial
Hypobetalipoproteinemia". Beside the protection from cardiovascular disease due to decreased
LDL-Cholesterol, patients tend to show elevated serum aminotransferases, fatty liver and
occasional cases of cirrhosis and carcinoma.
To elucidate the differences in lipoprotein assembly the investigators aim to characterize
the changes due to the mutations in the patients. Family members not carrying the mutations
are the control group. The assessment includes lipoprotein fractionation, MRI scans of the
liver and a thorough assessment of medical history of all patients to look for potential side
effects of the mutation.
The only intervention needed for the study is to draw blood samples of every participant. The
necessary positive vote from the ethics committee of the Medical University of Innsbruck is
given.
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