Postprandial Fatty Acid Metabolism in Subjects With Lipoprotein Lipase Deficiency (AGL12)
Lipoprotein Lipase Deficiency
About this trial
This is an interventional basic science trial for Lipoprotein Lipase Deficiency
Eligibility Criteria
Inclusion Criteria:
- 8 healthy LPL-deficient individuals (LPLD subjects) with history of fasting TG > 5 mmol/l and homozygote or compound heterozygote for a LPL-gene mutation;
- 8 control subjects (fasting glucose < 5.6, 2-hour post 75g OGTT glucose < 7.8 mmol/l and HbA1c < 5.8%; fasting TG < 1.5 mmol/l);
- age 18 to 75 yo;
- To be willing and able to adhere to the specifications of the protocol;
- To have signed an informed consent document indicating that they understood the purpose
Exclusion Criteria:
- age < 18 yo;
- overt cardiovascular disease as assessed by medical history, physical exam, and abnormal ECG
- Treatment with a fibrate, thiazolidinedione, beta-blocker or other drug known to affect lipid or carbohydrate metabolism (except statins, metformin, and other antihypertensive agents that can be safely interrupted);
- Treatment with anti-hypertensive medication (only for LPL-deficient individuals);
- presence of liver or renal disease; uncontrolled thyroid disorder;
- previous diagnosis of heparin-induced thrombocytopenia;
- Treatment with oral anticoagulation medication or platelet aggregation inhibiting drugs;
- A history of major hemorrhagic event;
- smoking (>1 cigarette/day) and/or consumption of >2 alcoholic beverages per day;;
- Female of child-bearing potential who is pregnant, breast feeding or intends to become pregnant or pre-menopausal female with a positive serum pregnancy test at the time of enrollment.
Sites / Locations
- Centre de recherche du CHUSRecruiting
Arms of the Study
Arm 1
Arm 2
Arm 3
Arm 4
Other
Other
Other
Other
Control group- A0
LPLD group-A0
Control group-A1
LPLD group-A1
Control group: Healthy subjects with fasting glucose < 5.6, 2-hour post 75g Oral Glucose Tolerance Test (OGTT) glucose < 7.8 mmol/l and HbA1c < 5.8%; fasting TG < 1.5 mmol/l); A0: without heparin administered
LPLD group: LPL deficient subjects with history of fasting TG > 5 mmol/l and homozygote or compound heterozygote for a LPL-gene mutation; A0: without heparin administered
Control group: Healthy subjects with fasting glucose < 5.6, 2-hour post 75g OGTT glucose < 7.8 mmol/l and HbA1c < 5.8%; fasting TG < 1.5 mmol/l); A1: with an intravenous (i.v.) heparin bolus (50 IU/kg i.v.) followed by 250 IU/h i.v. during 6 hours starting 15 minutes before ingestion of liquid meal.
LPLD group: LPL deficient subjects with history of fasting TG > 5 mmol/l and homozygote or compound heterozygote for a LPL-gene mutation; A1: with an intravenous (i.v.) heparin bolus (50 IU/kg i.v.) followed by 250 IU/h i.v. during 6 hours starting 15 minutes before ingestion of liquid meal.