Advanced liver imaging in Gaucher Disease: a pilot study

• Conditions: Gaucher Disease; lysosomal storage disorder; 10014699; 10019654

• Registration Number: NL-OMON34763
• Lead Sponsor: Academisch Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 6 May 2024

Recruitment & Eligibility

• Status: Pending
• Sex: Not specified
• Target Recruitment: 21

Inclusion Criteria

Patients with Gaucher Disease;
Over 18 years of age;
BMI under 27 kg/m2;
At least 2 years of therapy;
Written informed consent

Exclusion Criteria

Known history of chronic liver disease other than caused by Gaucher Disease;
Alcohol more than 3 units per day for males and more than 2 units per day for females;
Contra-indications for MRI scanning (standard checklist);
younger than 18 years of age;
use of medications that are known to affect the liver (see protocol)

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>The differences between Gaucher Disease patients with high risk versus normal<br /><br>risk and Gaucher Disease patients versus healthy volunteers in:<br /><br>-Elasticity measurements of the liver obtained with MR Elastography and<br /><br>FibroScan<br /><br>-Iron accumulation in the liver assessed by MRI and biochemical values.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>The differences between Gaucher Disease patients with high risk versus normal<br /><br>risk and Gaucher Disease patients versus healthy volunteers in: The spectrum of<br /><br>glucosylceramide in the liver obtained with 1H-MR Spectroscopy.</p><br>