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Postprandial Fatty Acid Metabolism in Subjects With Lipoprotein Lipase Deficiency

Not Applicable
Recruiting
Conditions
Lipoprotein Lipase Deficiency
Interventions
Dietary Supplement: liquid meal
Registration Number
NCT04227678
Lead Sponsor
Université de Sherbrooke
Brief Summary

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.

Detailed Description

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.

Recruitment & Eligibility

Status
RECRUITING
Sex
All
Target Recruitment
16
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.

Study & Design

Study Type
INTERVENTIONAL
Study Design
PARALLEL
Arm && Interventions
GroupInterventionDescription
Control group- A0liquid mealControl 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-A0liquid mealLPLD 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-A1HeparinControl 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.
Control group-A1liquid mealControl 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-A1liquid mealLPLD 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.
LPLD group-A1HeparinLPLD 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.
Primary Outcome Measures
NameTimeMethod
Organ-specific Dietary Fatty Acid (DFA) partitioning2 months

will be determined using oral administration of \[18F \]-Fluoro-6-Thia- Heptadecanoic Acid (FTHA ) during whole-body acquisition.

Myocardial DFA uptake2 months

will be assessed using oral administration of \[18F\]-FTHA during dynamic PET acquisition.

Secondary Outcome Measures
NameTimeMethod
postprandial plasma glucose turnover6 months

will be determined using stable isotope tracers of glucose

Myocardial oxidative metabolism2 months

will be determined using i.v. \[11C\]-acetate during dynamic PET/CT scanning.

Insulin sensitivity6 months

will be determined using a multiplex ELISA which will measure multiple analytes in a single experiment.

Myocardial nonesterified fatty acids (NEFA) metabolism2 months

will be determined using \[11C\]-palmitate during dynamic PET acquisition.

Total oxidation rate2 months

will be determined by indirect calorimetry

Left ventricular function by Positron Emitting Positron (PET) ventriculography2 months

will be determined using \[11C\]-acetate PET/CT. 180 megabecquerel (MBq) will be administered by bolus injection

Liver nonesterified fatty acids (NEFA) metabolism2 months

will be determined using \[11C\]-palmitate during dynamic PET acquisition.

Metabolites distribution in plasma2 months

will be determined using oral administration of \[18F\]-FTHA

Dietary fatty acid oxidation rate6 months

will be measured using breath \[13C\]-carbon dioxide enrichment

postprandial plasma NEFA turnover6 months

will be determined using stable isotope tracers of fatty acids

Trial Locations

Locations (1)

Centre de recherche du CHUS

🇨🇦

Sherbrooke, Quebec, Canada

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