Gaucher disease glucosylceramidosis
Conditions
Interventions
None listed
Sponsors
Academisch Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
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
Exclusion criteria: Age
Design outcomes
Secondary
| Measure | Time frame |
|---|---|
| - Comparison of ironmeasurements with standard care monitoring, that is liver- and spleenvolumes, QCSI and BMB-scores. - Relation ironmeasurements with biochemical GD markers - The value of extending the QCSI measurements, including tibia and fibula - Reproducibility of the whole-body MRI protocol | — |
Primary
| Measure | Time frame |
|---|---|
| The main study parameter is the difference in the measured ironlevels (expressed as R2*, a MRI based value correlating with ironconcentration (µmol/ g)) between Gaucherpatients and healthy controls. | — |
Countries
Netherlands
Outcome results
None listed