Glycosylation Defects causing DYslipidemia

Completed

Conditions: 10013317
cholesterol disturbances
Dyslipidemia
10027664

Registration Number: NL-OMON38669

Lead Sponsor: Academisch Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 100

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

- 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).

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Correlation between genetic glycosylation defects and lipid profile.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>- Correlation between genetic glycosylation defects and postprandial<br /><br>triglyceride clearance<br /><br>- Correlation between genetic glycosylation defects and fat percentage found<br /><br>at 1H-MR spectroscopy of the liver.<br /><br>- Difference between vessel wall dimensions (total wall volume, mean wall area,<br /><br>mean wall thickness, normalized walll index measured by MRI), wall shear stress<br /><br>(measured by MRI) between subjects with genetic defects in glycosylation and<br /><br>healthy non-affected family members or healthy control subjects</p><br>