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Characterization of Two Novel Mutations in the Apob Gene

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ClinicalTrials.gov Identifier: NCT03963037
Recruitment Status : Recruiting
First Posted : May 24, 2019
Last Update Posted : May 29, 2019
Sponsor:
Information provided by (Responsible Party):
Medical University Innsbruck

Brief 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.


Condition or disease Intervention/treatment
Familial Hypobetalipoproteinaemia - Heterozygous Form Low-LDL-syndrome Other: Blood draw

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Study Type : Observational
Estimated Enrollment : 16 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Characterization of Two Novel Truncating Mutations in the Apob Gene Leading to Hypobetalipoproteinemia: A Pilot Study
Actual Study Start Date : January 24, 2019
Estimated Primary Completion Date : January 2020
Estimated Study Completion Date : January 2022


Group/Cohort Intervention/treatment
Patients
The family members of our two kindreds who carry the truncating mutation in the Apolipoprotein B gene.
Other: Blood draw
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.
Other: Blood draw
Draw venous blood for baseline blood parameters and plasma samples for lipoprotein fractionation.




Primary Outcome Measures :
  1. Difference in lipoprotein profiles [ Time Frame: 6 months ]
    Lipoprotein profiles are measured via Fast Protein Liquid Chromatography in both groups and compared.

  2. Differences in amounts of liver fat [ Time Frame: 12 months ]
    Liver fat is non-invasive quantified by MRI scan

  3. Differences in HDL-efflux [ Time Frame: 6 months ]
    Compare the results between groups of HDL-efflux assays


Biospecimen Retention:   Samples Without DNA
Whole blood.


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Ages Eligible for Study:   18 Years to 85 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Sampling Method:   Non-Probability Sample
Study Population
The participants descend from two families. Each family carries a novel truncating mutation in the ApoB gene. The family members decided to participate in our pilotstudy to elucidate the changes caused by the mutations. Familial hypobetalipoproteinemia is a codominant disorder, so family members not carrying the mutations serve as control group.
Criteria

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

Exclusion Criteria:

  • No diagnosed hypobetalipoproteinemia
  • No truncating mutation in the Apo B gene
  • Exception of it ar the controls

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03963037


Contacts
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Contact: Clemens Engler, MD +43 512 504 83659 clemens.engler@i-med.ac.at
Contact: Christoph Ebenbichler, MD, Prof. christoph.ebenbichler@i-med.ac.at

Locations
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Austria
Medical University Innsbruck Recruiting
Innsbruck, Tyrol, Austria, 6020
Contact: Christoph Ebenbichler, MD, Prof.       christoph.ebenbichler@i-med.ac.at   
Principal Investigator: Christoph Ebenbichler, MD, Prof.         
Sub-Investigator: Clemens Engler, MD         
Sponsors and Collaborators
Medical University Innsbruck
Investigators
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Principal Investigator: Christoph Ebenbichler, MD, Prof. Department of Internal Medicine I, Medical University of Innsbruck, Austria

Publications:
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Responsible Party: Medical University Innsbruck
ClinicalTrials.gov Identifier: NCT03963037     History of Changes
Other Study ID Numbers: 20190130-1943
First Posted: May 24, 2019    Key Record Dates
Last Update Posted: May 29, 2019
Last Verified: January 2019

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Medical University Innsbruck:
Apolipoprotein B
Cholesterol
Lipoprotein
Metabolism
Steatosis
Cirrhosis
Hepatocellular Carcinoma
Additional relevant MeSH terms:
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Hypobetalipoproteinemias
Hypolipoproteinemias
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Dyslipidemias
Lipid Metabolism Disorders
Metabolic Diseases