Whole-body MRI in Gaucher disease; monitoring disease activity, early detection of complications and treatment decision-making

Completed

• Conditions: Gaucher disease; glucosylceramidosis; 10000546

• Registration Number: NL-OMON44801
• Lead Sponsor: Academisch Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 29 April 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 80

Inclusion Criteria

Age >18 years
Ability to provide informed consent
Patients: confirmed diagnosis Gaucher disease
Controls: resemblance in age and sex to matched patient

Exclusion Criteria

Age <18 years
Contra-indication MRI
Controls:
- known disease/abnormalities of liver, spleen or bone marrow. Or any of these in medical history.
- possible causes of iron overload

Study & Design

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

Primary Outcome Measures

Name	Time	Method
<p>The main study parameter is the difference in the measured ironlevels<br /><br>(expressed as R2*, a MRI based value correlating with ironconcentration (µmol/<br /><br>g)) between Gaucherpatients and healthy controls.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>- Comparison of ironmeasurements with standard care monitoring, that is liver-<br /><br>and spleenvolumes, QCSI and BMB-scores.<br /><br>- Relation ironmeasurements with biochemical GD markers<br /><br>- The value of extending the QCSI measurements, including tibia and fibula<br /><br>- Reproducibility of the whole-body MRI protocol</p><br>