What is this study trying to find out about Lipoprotein Lipase Deficiency?

This study aims to understand how people with Lipoprotein Lipase Deficiency process dietary fatty acids in their organs and how new treatments might influence this. Researchers want to learn how these fatty acids are stored and used, especially by the heart, to better understand the condition's impact. The study is sponsored by Université de Sherbrooke and involves detailed metabolic testing.

Who may be eligible for this Lipoprotein Lipase Deficiency clinical trial?

Adults aged 18 to 75 years with a diagnosis of Lipoprotein Lipase Deficiency confirmed by gene testing may be eligible. Participants should have a history of high fasting triglycerides and be willing to follow the study protocol. People with certain cardiovascular diseases or on specific medications may not qualify. Please review eligibility criteria for more details.

Is there any cost to participate in this Lipoprotein Lipase Deficiency clinical trial?

Study-related care, including the study drug or procedure and all trial visits, is provided at no cost. However, personal travel expenses and other costs may vary and are not guaranteed to be covered. Participants should plan accordingly for any additional expenses.

Actively Recruiting

Phase Not Applicable

Age: 18Years - 75Years

All Genders

Healthy Volunteers

ID04227678

Study of Fat Metabolism After Eating in Adults With Lipoprotein Lipase Deficiency Compared to Healthy Adults

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

Participants Needed

Research Sites

12 weeks

Total Duration

AI-Summary

What this Trial Is About

This research focuses on people with Lipoprotein Lipase Deficiency LPLD, a condition where the enzyme lipoprotein lipase is lacking, causing very high levels of triglycerides in the blood. These patients often experience symptoms like abdominal pain and dizziness after meals and risk recurrent pancreatitis. The study aims to understand how LPLD affects the way dietary fatty acids are stored and used by organs, especially the heart, and how new treatments might influence this process. Participants will undergo three visits including a screening and two metabolic studies spaced 7 to 14 days apart. Each metabolic study lasts 9 hours and involves eating a low-fat liquid meal while researchers use PET scans and stable isotopic tracers to track fatty acid metabolism. The studies compare conditions with and without an intravenous heparin injection given before the meal. The groups include healthy controls and LPLD patients, each tested with and without heparin. During the study, participants will have detailed evaluations including heart function scans, blood tests, and metabolic assessments at specific intervals. Researchers will measure how dietary fatty acids are distributed to organs, used by the heart, and metabolized overall. The study also monitors insulin sensitivity, glucose turnover, and other metabolic markers over months. This comprehensive monitoring helps understand the disease impact and treatment effects over time.

CONDITIONS

Brief Title

Postprandial Fatty Acid Metabolism in Subjects With Lipoprotein Lipase Deficiency

Who Can Participate

Age: 18Years - 75Years

All Genders

Healthy Volunteers

Eligibility Criteria

You may qualify if you...

Adults aged 18 to 75 years
Lipoprotein Lipase Deficiency (LPLD) subjects with a history of fasting triglycerides over 5 mmol/l and confirmed homozygote or compound heterozygote LPL-gene mutation
Healthy control subjects with fasting glucose below 5.6 mmol/l, 2-hour post 75g OGTT glucose below 7.8 mmol/l, HbA1c below 5.8%, and fasting triglycerides below 1.5 mmol/l
Willing and able to follow the study protocol
Signed informed consent indicating understanding of the study purpose

You will not qualify if you...

Age under 18 years
Known cardiovascular disease as shown by medical history, physical exam, or abnormal ECG
Treatment with fibrates, thiazolidinediones, beta-blockers, or other drugs affecting lipid or carbohydrate metabolism (except statins, metformin, and some antihypertensives that can be paused)
Use of antihypertensive medication (only for LPLD individuals)
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 event
Smoking more than 1 cigarette per day or drinking more than 2 alcoholic beverages daily
Female participants who are pregnant, breastfeeding, planning pregnancy, or pre-menopausal with a positive pregnancy test at enrollment

Research Team

Frédérique Frisch

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