Understanding fat metabolism in people with lipoprotein lipase deficiency

Postprandial Fatty Acid Metabolism in Subjects With Lipoprotein Lipase Deficiency

This study is trying to see how lipoprotein lipase deficiency affects how the body processes fats from food in people with this condition.

Quick facts

• Phase: Not applicable
• Study type: Interventional
• Enrollment: 16 (estimated)
• Ages: 18 Years to 75 Years
• Sex: All
• Sponsor: Université de Sherbrooke (Academic / other)
• Locations: 1 site (Sherbrooke, Quebec)
• Trial ID: NCT04227678 on ClinicalTrials.gov

What this trial studies

This study investigates how lipoprotein lipase deficiency (LPLD) affects the metabolism of dietary fatty acids in the body. It involves three visits, including a screening and two metabolic studies where participants will consume a low-fat liquid meal. The studies will be conducted with and without an intravenous heparin treatment to assess its impact on fat metabolism. Advanced imaging and stable isotopic tracer methods will be used to gather data over a nine-hour period following the meal.

Who should consider this trial

Good fit: Ideal candidates include healthy individuals with confirmed lipoprotein lipase deficiency and control subjects without metabolic disorders.

Not a fit: Patients under 18 years old or those with significant cardiovascular, liver, or renal diseases may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved dietary management and treatment options for patients with lipoprotein lipase deficiency.

How similar studies have performed: While there is ongoing research into LPLD, this specific approach to studying organ-specific fatty acid metabolism in LPLD is novel and has not been extensively tested.

Eligibility criteria

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.

Where this trial is running

Sherbrooke, Quebec

• Centre de recherche du CHUS — Sherbrooke, Quebec, Canada (Recruiting)

Study contacts

• Principal investigator: André Carpentier — Université de Sherbrooke
• Study coordinator: Frédérique Frisch

Conditions Lipoprotein Lipase Deficiency