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Studies how genes affect fat handling in the liver and blood

Studies how gene changes affect liver fat and blood fats in adults.

Plain-language title generated from the registry record
Registry title: Genetic Pathways Leading to Fatty Liver and Atherogenic Dyslipidemia

Key facts

Where
Helsinki, FinlandSee the site

Could this be for you?

Answer for yourself. This is not a decision: only the study team can say whether you can take part.

  • Are you between 18 and 70 years old?

Source: NCT04209816, who can take part

Where in Finland

  • RPU Clinical and Molecular Metabolism, BiomedicumHelsinki, FinlandNo longer taking part

Questions to ask the study team

  1. How often do I need to come in, and for how long each time?
  2. Are travel costs paid?
  3. Can I keep my own doctor?
  4. What happens if I want to stop?
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Trial details

Who runs it
Marja-Riitta Taskinen
Trial code
NCT04209816
Record updated
22 September 2023
Original description
The aims of the study are:Read full original descriptionShow less

Genetic Regulation of Lipid Pathways Contributing to Non-alcoholic Fatty Liver and Atherogenic Dyslipidemia

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.

Inclusion: 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.

Exclusion: Lipid-lowering drugs; 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; ApoE2/2 phenotype, thyrotropin concentration outside normal range,; Blood pressure >160 mmHg systolic and/or > 105 diastolic mmHg; Pregnancy, breastfeeding; Patients with volume depletion.

ClinicalTrials.gov NCT04209816