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Characterization of Two Novel Mutations in the Apob Gene

NCT03963037 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 16

Last updated 2020-02-20

No results posted yet for this study

Summary

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.

Conditions

  • Familial Hypobetalipoproteinaemia - Heterozygous Form
  • Low-LDL-syndrome

Interventions

OTHER

Blood draw

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

Sponsors & Collaborators

  • Medical University Innsbruck

    lead OTHER

Principal Investigators

  • Christoph Ebenbichler, MD, Prof. · Department of Internal Medicine I, Medical University of Innsbruck, Austria

Eligibility

Min Age
18 Years
Max Age
85 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2019-01-24
Primary Completion
2021-01-31
Completion
2022-01-31

Countries

  • Austria

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03963037 on ClinicalTrials.gov