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Scientists probe fat mystery in rare disease to pave way for new drugs

NCT ID NCT04227678

Knowledge-focused Sponsor: Université de Sherbrooke Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study looks at how people with lipoprotein lipase (LPL) deficiency, a rare condition that causes extremely high blood fat levels, handle dietary fats. Researchers will use special imaging and breath tests to see where fat goes in the body and how it's used for energy. The goal is to better understand the disease and help develop new treatments. The study involves 16 adults (8 with the condition and 8 healthy volunteers).

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

About 16 people

The number the study aims to enrol. It can still change while the study runs.

Started

Dec 2019

Expected to finish

Mar 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

18 to 75 years

Sex

Anyone

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

familial lipoprotein lipase deficiency

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Lipoprotein lipase deficiency

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Centre de recherche du CHUS

    RECRUITING

    Sherbrooke, Quebec, J1H 5N4, Canada