Clinical Trials Logo

Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT03963037
Other study ID # 20190130-1943
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date January 24, 2019
Est. completion date January 2022

Study information

Verified date February 2020
Source Medical University Innsbruck
Contact Clemens Engler, MD
Phone +43 512 504 83659
Email clemens.engler@i-med.ac.at
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


Recruitment information / eligibility

Status Recruiting
Enrollment 16
Est. completion date January 2022
Est. primary completion date January 2021
Accepts healthy volunteers
Gender All
Age group 18 Years to 85 Years
Eligibility 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

Study Design


Related Conditions & MeSH terms


Intervention

Other:
Blood draw
Draw venous blood for baseline blood parameters and plasma samples for lipoprotein fractionation.

Locations

Country Name City State
Austria Medical University Innsbruck Innsbruck Tyrol

Sponsors (1)

Lead Sponsor Collaborator
Medical University Innsbruck

Country where clinical trial is conducted

Austria, 

References & Publications (4)

Di Costanzo A, Di Leo E, Noto D, Cefalù AB, Minicocci I, Polito L, D'Erasmo L, Cantisani V, Spina R, Tarugi P, Averna M, Arca M. Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia. J Clin Lipidol. 2017 Sep - Oct;11(5):1234-1242. doi: 10.1016/j.jacl.2017.06.013. Epub 2017 Jun 24. — View Citation

Hooper AJ, Heeks L, Robertson K, Champain D, Hua J, Song S, Parhofer KG, Barrett PH, van Bockxmeer FM, Burnett JR. Lipoprotein Metabolism in APOB L343V Familial Hypobetalipoproteinemia. J Clin Endocrinol Metab. 2015 Nov;100(11):E1484-90. doi: 10.1210/jc.2015-2731. Epub 2015 Aug 31. — View Citation

Schonfeld G. Familial hypobetalipoproteinemia: a review. J Lipid Res. 2003 May;44(5):878-83. Epub 2003 Mar 16. Review. — View Citation

Welty FK. Hypobetalipoproteinemia and abetalipoproteinemia. Curr Opin Lipidol. 2014 Jun;25(3):161-8. doi: 10.1097/MOL.0000000000000072. Review. — View Citation

Outcome

Type Measure Description Time frame Safety issue
Primary Difference in lipoprotein profiles Lipoprotein profiles are measured via Fast Protein Liquid Chromatography in both groups and compared. 6 months
Primary Differences in amounts of liver fat Liver fat is non-invasive quantified by MRI scan 12 months
Primary Differences in HDL-efflux Compare the results between groups of HDL-efflux assays 6 months