Actively Recruiting

Phase Not Applicable
Age: 18Years - 75Years
All Genders
Healthy Volunteers
NCT04227678

Postprandial Fatty Acid Metabolism in Subjects With Lipoprotein Lipase Deficiency

Led by Université de Sherbrooke · Updated on 2026-02-10

16

Participants Needed

1

Research Sites

381 weeks

Total Duration

On this page

Sponsors

U

Université de Sherbrooke

Lead Sponsor

I

Institut de Recherches Cliniques de Montreal

Collaborating Sponsor

AI-Summary

What this Trial Is About

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

Official Title

Postprandial Fatty Acid Metabolism in Subjects With Lipoprotein Lipase Deficiency

Who Can Participate

Age: 18Years - 75Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Adults aged 18 to 75 years
  • 8 healthy individuals with lipoprotein lipase deficiency confirmed by gene mutation and history of fasting triglycerides over 5 mmol/l
  • 8 control subjects with normal fasting glucose, normal glucose tolerance, normal HbA1c, and fasting triglycerides below 1.5 mmol/l
  • Willing and able to follow the study protocol
  • Signed informed consent acknowledging understanding of the study purpose
Not Eligible

You will not qualify if you...

  • Age under 18 years
  • Known cardiovascular disease or abnormal ECG
  • Treatment with drugs affecting lipid or carbohydrate metabolism such as fibrates, thiazolidinediones, or beta-blockers (except statins, metformin, and certain antihypertensives that can be stopped safely)
  • Treatment with anti-hypertensive medication (for LPL-deficient individuals only)
  • Presence of liver or kidney disease or uncontrolled thyroid disorder
  • Previous diagnosis of heparin-induced thrombocytopenia
  • Use of oral anticoagulants or platelet aggregation inhibitors
  • History of major bleeding events
  • Smoking more than 1 cigarette per day or consuming more than 2 alcoholic drinks per day
  • Female of childbearing potential who is pregnant, breastfeeding, planning pregnancy, or with a positive pregnancy test at enrollment

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

Centre de recherche du CHUS

Sherbrooke, Quebec, Canada, J1H 5N4

Actively Recruiting

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Research Team

F

Frédérique Frisch

CONTACT

How is the study designed?

Study Type

INTERVENTIONAL

Masking

SINGLE

Allocation

RANDOMIZED

Model

PARALLEL

Primary Purpose

BASIC_SCIENCE

Number of Arms

4

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