Familial Hypobetalipoproteinaemia - Heterozygous FormNCT03963037
Characterization of Two Novel Mutations in the Apob Gene
An observational study of Familial Hypobetalipoproteinaemia - Heterozygous Form and Low-LDL-syndrome, run by Medical University Innsbruck at 1 site in Austria.
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. Read more about this study
- Who is it for?
- Ages 18 to 85 years
- Conditions the study is for
- Familial Hypobetalipoproteinaemia - Heterozygous Form, Low-LDL-syndrome
- What is being tested?
- Blood draw
- How many people
- 16 participants
- Where
- 1 siteAustria
- Study dates
- 24 Jan 2019to Jan 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 85 years
- All sexes
- Adult, Older adult
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.
Who may be able to join
- Full legal age
- Written Informed Consent
- Diagnosed hypobetalipoproteinemia
- Exception of it are the controls
- Controls have to be family members
Who cannot join
- No diagnosed hypobetalipoproteinemia
- No truncating mutation in the Apo B gene
- Exception of it ar the controls
Trial locations and contacts
1 site in 1 country.
Christoph Ebenbichler, MD, Prof. contact
Austria1 site, 1 recruiting
- Recruiting
Medical University Innsbruck
Innsbruck, Tyrol, 6020
Christoph Ebenbichler, MD, Prof., christoph.ebenbichler@i-med.ac.at
Christoph Ebenbichler, MD, Prof.
About this study
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.
- Being tested
- Blood draw
- Keywords
- Apolipoprotein B, Cholesterol, Lipoprotein, Metabolism, Steatosis, Cirrhosis, Hepatocellular Carcinoma
- Medical subject headings
- Fatty Liver, Fibrosis, Carcinoma, Hepatocellular
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood drawOther
Draw venous blood for baseline blood parameters and plasma samples for lipoprotein fractionation.
| Study group | Role | What they receive |
|---|---|---|
| Patients | The family members of our two kindreds who carry the truncating mutation in the Apolipoprotein B gene. Receives: Other: Blood draw | |
| Controls | The family members of our two kindreds who are no carriers of the truncating mutation in the Apolipoprotein B gene. Receives: Other: Blood draw |
What is being measured
The primary outcome is the main question the study is designed to answer.
Difference in lipoprotein profiles
Lipoprotein profiles are measured via Fast Protein Liquid Chromatography in both groups and compared.
Measured: 6 months
Differences in amounts of liver fat
Liver fat is non-invasive quantified by MRI scan
Measured: 12 months
Differences in HDL-efflux
Compare the results between groups of HDL-efflux assays
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 May 2019
- Study start24 Jan 2019
- Primary completionJan 2021 (estimated)
- Study completionJan 2022 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Familial Hypobetalipoproteinaemia - Heterozygous FormStudies of the same condition, open and under way.
- More trials run by Medical University InnsbruckThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Prospective
- Enrolment
- 16 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Medical University Innsbruck
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Christoph Ebenbichler, MD, Prof., Principal investigator, Department of Internal Medicine I, Medical University of Innsbruck, Austria
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03963037
- Sponsor's protocol ID
- 20190130-1943
- Status last verified
- Feb 2020
- First submitted
- 22 May 2019
- Last updated
- 20 Feb 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Welty FK. Hypobetalipoproteinemia and abetalipoproteinemia. Curr Opin Lipidol. 2014 Jun;25(3):161-8. doi: 10.1097/MOL.0000000000000072.
PubMed 24751931Di Costanzo A, Di Leo E, Noto D, Cefalu 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.
PubMed 28733173Schonfeld G. Familial hypobetalipoproteinemia: a review. J Lipid Res. 2003 May;44(5):878-83. doi: 10.1194/jlr.R300002-JLR200. Epub 2003 Mar 16.
PubMed 12639976Hooper 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.
PubMed 26323024
Study at a glance
From the registry record, last updated by the sponsor on 20 Feb 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of Two Novel Truncating Mutations in the Apob Gene Leading to Hypobetalipoproteinemia: A Pilot Study
- ClinicalTrials.gov ID
- NCT03963037
- Acronym / sponsor ID
- 20190130-1943
- Keywords
- Apolipoprotein B, Cholesterol, Lipoprotein, Metabolism, Steatosis, Cirrhosis, Hepatocellular Carcinoma
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 16 participants (estimated)
- Lead sponsor
- Medical University InnsbruckUniversity, hospital or other
- Study start
- 24 Jan 2019 (actual)
- Primary completion
- Jan 2021 (estimated)
- Study completion
- Jan 2022 (estimated)
- First posted
- 24 May 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients | – | Other: Blood drawThe family members of our two kindreds who carry the truncating mutation in the Apolipoprotein B gene. |
| Controls | – | Other: Blood drawThe family members of our two kindreds who are no carriers of the truncating mutation in the Apolipoprotein B gene. |
Who may qualify
- Ages
- 18 to 85 years
- Sex
- All
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- Full legal age
- Written Informed Consent
- Diagnosed hypobetalipoproteinemia
- Exception of it are the controls
- Controls have to be family members
Key exclusion criteria (3 listed)
- No diagnosed hypobetalipoproteinemia
- No truncating mutation in the Apo B gene
- Exception of it ar the controls
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood drawDraw venous blood for baseline blood parameters and plasma samples for lipoprotein fractionation. | Other | Controls, Patients |
Primary outcome
Difference in lipoprotein profiles
Time frame: 6 months
Lipoprotein profiles are measured via Fast Protein Liquid Chromatography in both groups and compared.
Differences in amounts of liver fat
Time frame: 12 months
Liver fat is non-invasive quantified by MRI scan
Differences in HDL-efflux
Time frame: 6 months
Compare the results between groups of HDL-efflux assays
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Feb 2020.
- Background: PubMed 24751931Welty FK. Hypobetalipoproteinemia and abetalipoproteinemia. Curr Opin Lipidol. 2014 Jun;25(3):161-8. doi: 10.1097/MOL.0000000000000072.
- Background: PubMed 28733173Di Costanzo A, Di Leo E, Noto D, Cefalu 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.
- Background: PubMed 12639976Schonfeld G. Familial hypobetalipoproteinemia: a review. J Lipid Res. 2003 May;44(5):878-83. doi: 10.1194/jlr.R300002-JLR200. Epub 2003 Mar 16.
- Background: PubMed 26323024Hooper 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.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Christoph Ebenbichler, MD, Prof. contact
Christoph Ebenbichler, MD, Prof. principal investigator
Department of Internal Medicine I, Medical University of Innsbruck, Austria
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Familial Hypobetalipoproteinaemia - Heterozygous Form and Low-LDL-syndrome, run by Medical University Innsbruck at 1 site in Austria.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 20 Feb 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Austria. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Clemens Engler, MD (+43 512 504 83659, clemens.engler@i-med.ac.at), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Difference in lipoprotein profiles (time frame: 6 months). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03963037, which also lists 4 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Feb 2020.