NCT04209816Enrolling by invitation
Genetic Pathways Leading to Fatty Liver and Atherogenic Dyslipidemia
Genetic Regulation of Lipid Pathways Contributing to Non-alcoholic Fatty Liver and Atherogenic Dyslipidemia
Source: ClinicalTrials.gov · Last updated 22 Sept 2023 · Not updated for over 12 months - ask the site whether it is still open
Brief summary (registry, in English)
The aims of the study are: 1. To investigate if carriers of apolipoprotein (apo) CIII loss-of-function (LOF) mutations produce less apo-CIII that results in reduction of large very low-density lipoprotein (VLDL) particle secretion as compared to non-carriers of these variants and compare the results with carriers of apo-CIII gain-of-function (GOF) to elucidate the role of apo-CIII in hepatic lipid metabolism. 2. To study if carriers of the TM6SF2 E167K and PNLPLA3 I148M mutations produce less large VLDL particles to transport fat out of the liver as compared to non-carriers. 3. To test whether the specific mutations in the apo-CIII, TM6SF2 and PNLPLA3 genes are reflected in changes of liver de novo lipogenesis (DNL), liver fat, Homeostatic Model Assessment for Insulin Resistance (HOMA-IR), plasma lipid and apolipoprotein kinetics and fasting concentrations in carriers of the TM6SF2 E167K and PNLPLA3 I148M mutations as compared to non-carriers. 4. To study the effects of APOE, angiopoietin (ANGPTL3 and ANGPTL8) or endothelial lipase (LIPG) genotypes on liver fat metabolism, lipid and apolipoprotein metabolism and lipid phenotypes.
- Status (registry)
- Enrolling by invitation
- Study type
- Observational
- Enrollment
- 100 (estimated)
- First submitted
- 19 Dec 2019
- Start date
- 1 Dec 2019
- Primary completion date
- Jun 2024
- Lead sponsor
- Marja-Riitta Taskinen
- Diseases
- Fatty liver disease (MASLD/MASH)
- NCT number
- NCT04209816
What you commit to
- Study type: Observational
- Planned participants: 100
- From 1 Dec 2019 to the primary completion date, Jun 2024
- 2 sites in 2 countries
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Lipid-lowering drugs
Other illness
- Patients with Type 1 and 2 diabetes, BMI \> 40 kg/m2,
- Liver failure or abnormal liver function tests \>3 x upper limit of normal
- Intestinal disease
Other
- ApoE2/2 phenotype, thyrotropin concentration outside normal range,
- Blood pressure \>160 mmHg systolic and/or \> 105 diastolic mmHg
- Pregnancy, breastfeeding
- Patients with volume depletion
Who the study is looking for
- persons who have provided written consent
- apo-CIII loss-of-function mutation (heterozygous) or apo-CIII gain-of-function mutations (heterozygous) or TM6SF2 E167K mutation (homozygous) or PNLPLA3 I148M or apoE or LIPG or ANGPTL3 or ANGPTL8 LOF and GOF variants. Control group without any of known risk variants in these genes.
- Hemoglobin A1c \< 6.5%
- Body mass index between 18.5 and 40 kg/m²
- Estimated glomerular filtration rate \> 60 ml/min/1.73 m² at inclusion
Age in the registry: 18 years to 70 years · Sex: All · Does not accept healthy volunteers
Sites (2)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| RPU Clinical and Molecular Metabolism, Biomedicum Coordinator of this site? Confirm its status | Helsinki | Finland | Unknown status |
| Wallenberg Laboratory Coordinator of this site? Confirm its status | Gothenburg | Sweden | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.