An interventional study of Heparin and liquid meal in Lipoprotein Lipase Deficiency, sponsored by Université de Sherbrooke. Recruiting at 1 site in Canada. Open to participants aged 18 Years to 75 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-02-10.
Sponsored by Université de Sherbrooke · Not applicable, Interventional, and Basic science
Lipoprotein lipase (LPL) is an enzyme that plays an important role in removing triglycerides (TG) (molecules that transport dietary fat) from the blood. Patients with LPL deficiency (LPLD) display during their whole life very high plasma TG levels often associated with episodes of postprandial abdominal pain, malaise, blurred vision, dizziness (hyperchylomicronemia syndrome) that may lead to recurrent pancreatitis episodes. Because of their very slow clearance in blood of their chylomicron-TG, these patients need to severely restrict their dietary fat intake to avoid these complications. Fortunately, novel treatments are being developed to circumvent LPL deficiency (LPLD) metabolic effect on chylomicron-TG clearance. However, there is no data on how LPLD affect organ-specific dietary fatty acid metabolism nor how the novel therapeutic agents may change this metabolism. For example, it is currently not understood how subjects with LPLD store their DFA into adipose tissues and whether they are able to use DFA as a fuel to sustain their cardiac metabolism, as healthy individuals do. This study aims to better understand theses two questions.
The study protocol includes 3 visits: the screening visit and 2 postprandial metabolic studies performed in random order at an interval of 7 to 14 days, and performed with (A1) and without (A0) an intravenous (i.v.) heparin bolus followed by 250 IU/h i.v during 6 hours. Each metabolic study will last 9 hours (with 6 hours postprandial) and will include PET and stable isotopic tracer methods. At time 0, a low fat liquid meal will be ingested over 20 minutes.
Exclusion Criteria:
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
Dietary Supplement: 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; A0: without heparin administered
Dietary Supplement: liquid meal
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.
Drug: Heparin · Dietary Supplement: 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.
Drug: Heparin · Dietary Supplement: liquid meal
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
low fat meal: (500 mL, 898 Kcal, 13% fat, 20.3% protein and 62.3% carbohydrates) will be ingested over 20 minutes
Organ-specific Dietary Fatty Acid (DFA) partitioning
will be determined using oral administration of \[18F \]-Fluoro-6-Thia- Heptadecanoic Acid (FTHA ) during whole-body acquisition.
Time frame: 2 months
Myocardial DFA uptake
will be assessed using oral administration of \[18F\]-FTHA during dynamic PET acquisition.
Time frame: 2 months
Myocardial nonesterified fatty acids (NEFA) metabolism
will be determined using \[11C\]-palmitate during dynamic PET acquisition.
Time frame: 2 months
Dietary fatty acid oxidation rate
will be measured using breath \[13C\]-carbon dioxide enrichment
Time frame: 6 months
Total oxidation rate
will be determined by indirect calorimetry
Time frame: 2 months
postprandial plasma NEFA turnover
will be determined using stable isotope tracers of fatty acids
Time frame: 6 months
postprandial plasma glucose turnover
will be determined using stable isotope tracers of glucose
Time frame: 6 months
Left ventricular function by Positron Emitting Positron (PET) ventriculography
will be determined using \[11C\]-acetate PET/CT. 180 megabecquerel (MBq) will be administered by bolus injection
Time frame: 2 months
Myocardial oxidative metabolism
will be determined using i.v. \[11C\]-acetate during dynamic PET/CT scanning.
Time frame: 2 months
Insulin sensitivity
will be determined using a multiplex ELISA which will measure multiple analytes in a single experiment.
Time frame: 6 months
Liver nonesterified fatty acids (NEFA) metabolism
will be determined using \[11C\]-palmitate during dynamic PET acquisition.
Time frame: 2 months
Metabolites distribution in plasma
will be determined using oral administration of \[18F\]-FTHA
Time frame: 2 months
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Université de Sherbrooke