RecruitingNAINTERVENTIONAL

Postprandial Fatty Acid Metabolism in Subjects With Lipoprotein Lipase Deficiency

This study aims to understand how people with a rare genetic condition called Lipoprotein Lipase Deficiency (LPLD) process fats from their diet. People with LPLD often have very high levels of fat in their blood, which can lead to stomach pain, blurred vision, and dizziness, and sometimes serious problems like pancreatitis. Because of this, they must severely limit the fat in their diet. Researchers are developing new treatments, but we don't fully understand how LPLD affects how different organs, like the heart, use or store these dietary fats. This study will help us learn more, potentially leading to improved care and more effective treatments for those living with LPLD.

At a glance

Status

Recruiting

Phase

Sponsor

Université de Sherbrooke

Enrolment target

Start

09 Dec 2019

Estimated completion

30 Mar 2027

Lipoprotein Lipase Deficiency

What is this study about?

This study is about a rare genetic condition called Lipoprotein Lipase Deficiency, or LPLD. If you have LPLD, your body doesn't produce enough of a specific enzyme called lipoprotein lipase. This enzyme is crucial for breaking down and clearing fats from the food you eat (called triglycerides) from your blood. Without enough of this enzyme, these fats build up to very high levels.

Having high levels of fats in your blood can cause various problems. You might experience symptoms like stomach pain, feeling generally unwell, blurry vision, or dizziness, especially after eating. In more serious cases, it can lead to repeated attacks of a painful condition called pancreatitis. Because of these risks, people with LPLD usually have to follow a very strict low-fat diet throughout their lives.

Doctors and scientists are working on new treatments for LPLD. However, we don't fully understand exactly how LPLD affects the body's ability to use these dietary fats in specific organs, or how new treatments might change this. For example, we aren't sure how people with LPLD store fats in their body fat (adipose tissue) or if their heart can use these fats for energy, as it does in healthy people. This study aims to answer these important questions, which could help in developing and improving future treatments.

Key takeaways

Study focuses on understanding fat processing in people with Lipoprotein Lipase Deficiency (LPLD).
Aims to learn how organs like the heart use dietary fats.
Participation involves three visits, with two lasting 9 hours each.
One visit includes a brief infusion of a medication called Heparin.
Findings could help develop better treatments for LPLD.
All participants must be between 18 and 75 years old.

Who may be eligible?

This study is looking for two groups of people: healthy volunteers and people diagnosed with Lipoprotein Lipase Deficiency (LPLD). All participants must be between 18 and 75 years old and be willing to follow the study instructions carefully. If you have LPLD, you'll need to have a history of high fat levels in your blood and a confirmed genetic diagnosis of the condition.

There are also some reasons why you might not be able to join. For instance, if you are under 18, have certain heart, liver, or kidney problems, or have uncontrolled thyroid issues, you won't be eligible. You also can't take part if you are pregnant, breastfeeding, or plan to become pregnant, or if you take certain medications that affect fat or sugar levels, blood thinners, or regularly smoke or drink more than a couple of alcoholic drinks per day. If you have LPLD, you generally shouldn't be taking blood pressure medication (unless it can be safely stopped for the study).

If you're unsure whether you qualify, it's always best to discuss it with your doctor or the study team. They can help check if this study is suitable for you.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you between 18 and 75 years old?
If you have LPLD, do you have a confirmed genetic diagnosis and a history of high blood fats?
Are you willing and able to attend all study visits and follow instructions?
Are you NOT pregnant or breastfeeding, and not planning to become pregnant?
Do you NOT have serious heart, liver, or kidney problems?
Are you NOT currently taking certain specific medications (please discuss with study team)?

Answer every question to see your result.

What does participation involve?

If you decide to join this study, your participation will involve three visits to the clinic. First, you'll have a screening visit to make sure you're suitable for the study. After that, you'll have two main study visits, happening about 1 to 2 weeks apart, in a random order. Each of these main visits will last for 9 hours.

During these 9-hour visits, you'll have a special liquid meal over 20 minutes at the beginning. We'll monitor how your body processes the fats from this meal for 6 hours afterwards. One of these visits will involve receiving a small amount of a medication called Heparin through a drip (intravenous) for a few hours. The procedures during these visits will include special scans (PET scans) and using safe tracing substances (stable isotopic tracers) to track how fats move through your body. You'll need to follow specific instructions throughout the study.

Potential risks and benefits

By taking part in this study, you could help us learn more about Lipoprotein Lipase Deficiency and how new treatments might work, which could benefit others with the condition in the future. As with any medical study, there are potential risks, including the minor discomfort from blood tests, the effects of receiving Heparin (which will be carefully monitored), and any mild side effects from the liquid meal or tracers. All procedures will be performed by experienced medical staff. You have the right to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (1)

Centre de recherche du CHUS
Verified postcode
Sherbrooke, Canada· Recruiting

Common questions

What is Lipoprotein Lipase Deficiency (LPLD)?

LPLD is a rare genetic condition where your body doesn't produce enough of an enzyme needed to break down fats from your food, leading to very high fat levels in your blood.

Why is this study important?

This study aims to understand how LPLD affects how different organs, like the heart, use fats from food. This knowledge can help develop and improve treatments for LPLD.

Will I have to take new medication?

One of the study visits will involve receiving a short dose of a medication called Heparin through a drip to see how it affects fat processing.

How long will I be involved in the study?

You'll have a screening visit, followed by two main study visits, each lasting 9 hours. These main visits will be spaced 1-2 weeks apart.

Are there any restrictions on what I can eat or do?

Yes, you'll likely need to follow specific dietary instructions before and during the study visits, and there will be other study guidelines to follow.

How to find out more

Frédérique Frisch

frederique.frisch@usherbrooke.ca 819-346-1110- ext12394 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.