Recruiting

Lipoprotein Lipase Deficiency

Sponsor:

Université de Sherbrooke

Code:

NCT04227678

Conditions

Lipoprotein Lipase Deficiency

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Accepted

Interventions

Heparin

liquid meal

Study Details

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.

Conditions

Lipoprotein Lipase Deficiency

Study ID

NCT04227678

Start date

Dec 9, 2019

Status verified date

Feb, 2026

Completion date

Mar 30, 2027

Anticipated

Primary completion date

Dec 30, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Accepted

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

Enrollment

16 participants

Anticipated

Allocation

Randomized

Intervention Model

Parallel Assignment

Primary purpose

Basic Science

Interventions and Outcome Measures

Arms

other: Control group- A0

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

other: LPLD group-A0

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

other: Control group-A1

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.

other: LPLD group-A1

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.

Interventions

Heparin

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

liquid meal

low fat meal: (500 mL, 898 Kcal, 13% fat, 20.3% protein and 62.3% carbohydrates) will be ingested over 20 minutes

Primary outcome measure

  • Organ-specific Dietary Fatty Acid (DFA) partitioning [ Time Frame: 2 months ]
  • Myocardial DFA uptake [ Time Frame: 2 months ]

Central Contacts and Locations

Central contacts

Frédérique Frisch

819-346-1110- ext12394frederique.frisch@usherbrooke.ca

Locations

Centre de recherche du CHUS

Recruiting

Sherbrooke, Quebec, Canada, J1H 5N4

Contacts

Frédérique Frisch

819-346-1110- ext12394frederique.frisch@usherbrooke.ca

More Information

Sponsor

Université de Sherbrooke

Last update posted

Feb 10, 2026

Last verified

Feb, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Université de Sherbrooke on 2026-02-10.