cholesterol disturbances Dyslipidemia
Conditions
Interventions
None listed
Sponsors
Academisch Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: Included are all healthy heterozygous carriers and non-affected family members of patients diagnosed with congenital disorder of glycosylation, aged 18 or older. Healthy individuals will be included as a control population.
Exclusion criteria
Exclusion criteria: - Known systemic disorders such as hepatic, renal, hematologic, and malignant diseases or any clinically significant medical condition that could interfere with the conduct of the study in the opinion of the investigator. - Standard contra-indications to MRI based on physicians experience and current practices - Claustrophobia - Metal in the body, as a result of e.g. osteosynthetic material, pacemaker implantation or artificial cardiac valves. - Inability or unwillingness to comply with the protocol requirements.;When dyslipidemia is present, exclusion criteria are all secondary causes of dyslipidemia (nephrotic syndrome, adrenal insufficiency, renal insufficiency, hypothyroidism, heavy alcohol use, cholestasis, use of protease inhibitors).
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Correlation between genetic glycosylation defects and lipid profile. | — |
Secondary
| Measure | Time frame |
|---|---|
| - Correlation between genetic glycosylation defects and postprandial triglyceride clearance - Correlation between genetic glycosylation defects and fat percentage found at 1H-MR spectroscopy of the liver. - Difference between vessel wall dimensions (total wall volume, mean wall area, mean wall thickness, normalized walll index measured by MRI), wall shear stress (measured by MRI) between subjects with genetic defects in glycosylation and healthy non-affected family members or healthy control subjects | — |
Countries
Netherlands
Outcome results
None listed