In this study, we will evaluate if these HME subjects are characterized by impaired postprandial lipid clearance compared to otherwise healthy control subjects
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
- Lipid metabolism disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Changes in postprandial trygliceride levels in HME subjects vewith either EXT1
or EXT2 mutation compared to unaffected, healthy control subjects
Secondary outcome
Changes in cardiovascular risk profile (lipidprofile, ECG changes) in HME
subjects vewith either EXT1 or EXT2 mutation compared to unaffected, healthy
control subjects
Background summary
Postprandial dyslipidemia is contributing to an atherogenic state and
subsequent cardiovascular disease. Novel insights in the pathophysiology are
urgently needed. Recent studies in mice have suggested that endothelial and
hepatic heparansulfates are involved in (postprandial) lipid clearance.
Patients with EXT-1 and EXT-2 mutations are characterized by the hereditary
multiple exostoses/multiple osteochondromas (HME/MO) syndrome, an autosomal
dominant syndrome causing multiple benign epiphysial bone tumors during (pre-)
puberty due to 50% reduction in heparansulfate synthesis.
Study objective
In this study, we will evaluate if these HME subjects are characterized by
impaired postprandial lipid clearance compared to otherwise healthy control
subjects
Study design
observational study with functional (lipidload and LPL) tests
Study burden and risks
No disadvantageous effects are expected in this study. The ingestion of cream
is unpleasant but unharmful. The LPL test is a test routinely performed at our
outpatient clinic with no know side effects. Hypertriglyceridemia is important
partaker in cardiovascular morbidity and mortality in the coming decades.
Unfortunately, the exact causes for in the development of hypertriglyceridemia
needs further clarification, only then allowing targeted novel strategies to
attenuate this greatly increased cardiovascular risk In the present study we
will compare the impact of a monogenetic heparansulfate mutation (EXTgene) in
HME subjects on postprandial lipidmetabolism to healthy controls.
Meiberdreef 9
Amsterdam Zuid Oost 1105 AZ
NL
Meiberdreef 9
Amsterdam Zuid Oost 1105 AZ
NL
Listed location countries
Age
Inclusion criteria
Male and female subjects at least 18 years of age
Clinically esthablished diagnosis of HME or unaffected, healthy control
willing to stop ATII/ACE inhibitors (5 days) and statin (4 weeks) before lipidload
Exclusion criteria
Current diabetes
Current pregnancy
Malignancy with limited lifespan -Cardiovascular disease
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL42142.018.12 |