Gaucher Disease lysosomal storage disorder
Conditions
Interventions
None listed
Sponsors
Academisch Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
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
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)
Design outcomes
Secondary
| Measure | Time frame |
|---|---|
| The differences between Gaucher Disease patients with high risk versus normal risk and Gaucher Disease patients versus healthy volunteers in: The spectrum of glucosylceramide in the liver obtained with 1H-MR Spectroscopy. | — |
Primary
| Measure | Time frame |
|---|---|
| The differences between Gaucher Disease patients with high risk versus normal risk and Gaucher Disease patients versus healthy volunteers in: -Elasticity measurements of the liver obtained with MR Elastography and FibroScan -Iron accumulation in the liver assessed by MRI and biochemical values. | — |
Countries
Netherlands
Outcome results
None listed