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This study examines postprandial (after-meal) fatty acid metabolism in people with lipoprotein lipase deficiency, using a liquid meal and heparin. It enrolls people with lipoprotein lipase deficiency carrying an LPL-gene mutation, along with healthy control participants (aged 18 to 75) for comparison. It is a study without an assigned phase and is currently recruiting participants.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
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.