Characterization of Two Novel Mutations in the Apob Gene

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

16 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-01-24

Study Completion Date

2022-01-31

Brief Summary

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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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Detailed Description

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Conditions

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Familial Hypobetalipoproteinaemia - Heterozygous Form Low-LDL-syndrome

Study Design

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Observational Model Type

FAMILY_BASED

Study Time Perspective

PROSPECTIVE

Study Groups

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Patients

The family members of our two kindreds who carry the truncating mutation in the Apolipoprotein B gene.

Blood draw

Intervention Type OTHER

Draw venous blood for baseline blood parameters and plasma samples for lipoprotein fractionation.

Controls

The family members of our two kindreds who are no carriers of the truncating mutation in the Apolipoprotein B gene.

Blood draw

Intervention Type OTHER

Draw venous blood for baseline blood parameters and plasma samples for lipoprotein fractionation.

Interventions

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Blood draw

Draw venous blood for baseline blood parameters and plasma samples for lipoprotein fractionation.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Full legal age
* Written Informed Consent
* Diagnosed hypobetalipoproteinemia
* Exception of it are the controls
* Controls have to be family members
* Exclusion of a truncating mutation in the ApoB gene