Clinical trial NCT02933138: Plasma Triglyceride Lipolysis in Multifactorial Chylomicronemia
Official title: Systematic Study of Post Herapin Lipoprotein Lipase Activity and Lipoprotein Remodelling in Multifactorial Chylomicronemia
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Hyperlipoproteinemia
Keywords: Lipoprotein Lipase
Hypertriglyceridemia
Triglycerides
Lipolysis
Multifactorial Chylomicronemia
Lead sponsor: Hospices Civils de Lyon
Sponsor class: OTHER
First posted: 2016-10-14
Enrollment: 62
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: patient with a documented history of MCM (Plasma TG concentration (TG) \> 15 mmol/l or familial history of hypertriglyceridemia with TG \>10 mmol/l) who had no contraindication for a single heparin injection for ex vivo LPL activity assessment

Brief summary: Purpose: The mechanism of most of the multifactorial chylomicronemia (MCM) remains elusive. In order to decipher the mechanisms involved in the occurrence of this disease, plasma TG lipolysis characteristics will be monitored for 60 minutes after heparin injection instead of the 10 minutes gold standard, in a large group of genotyped MCM patients.

Detailed description: Purpose: The mechanism of most of the multifactorial chylomicronemia (MCM) remains elusive. In order to decipher the mechanisms involved in the occurrence of this disease, plasma TG lipolysis characteristics will be monitored for 60 minutes after heparin injection instead of the 10 minutes gold standard, in a large group of genotyped MCM patients.

Method: LPL, APOC2, APOA5, GPIHB1and APOE genotypes will be determined for each patient. Basal lipid profiles including Apo B, CII, CIII, and lipoprotein lipase (LPL) concentration will be measured in 62 MCM patients, in addition to LPL activity (PHLA) T0, T10 T30 T60 minutes, Assessment of TG chylomicron decrease Study of lipoprotein remodelling by agarose gel electrophoresis.

Hypothesis To confirm the preliminary finding of high LPL activity in multifactorial chylomicronemia To explore the interest of a longer assessment of LPL activity following heparin injection. To establish if specific phenotypes could be identified among MCM patient supporting the hypothesis of different mechanisms involved (ie overproduction or defect in hepatic clearance)

Eligibility criteria: Inclusion Criteria:

* patient with a documented history of MCM (Plasma TG concentration (TG) \> 15 mmol/l or familial history of hypertriglyceridemia with TG \>10 mmol/l)
* no contraindication for a single heparin injection for ex vivo LPL activity assessment

Exclusion Criteria:

* patients carriers of homozygous or compound heterozygous mutations on LPL, GPIHBP1, APOA5, APOC2 or APOE genes

Primary outcomes:
measure: Lipoprotein Lipase concentration
timeFrame: 60 minutes after heparin injection
Secondary outcomes:
measure: Basal lipid profiles
timeFrame: maximum 60 min before heparin injection
measure: Lipoprotein electrophoresis
timeFrame: maximum 60 minutes after heparin injection
measure: Total triglycerides decrease
timeFrame: maximum 60 minutes after heparin injection
Other outcomes:
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Study officials:
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