Intra-monocyte Imiglucerase Kinetics in Gaucher Disease (CIMI)
Gaucher Disease
About this trial
This is an interventional treatment trial for Gaucher Disease focused on measuring Gaucher disease, Imiglucerase, Pharmacokinetics
Eligibility Criteria
Inclusion Criteria:
- Patient older than 12 years old with Gaucher disease type 1 or type 3 and having signed an informed consent
- Treated with imiglucerase (Cerezyme ®) with a stable therapeutic strategy for at least 3 months.
OR
- Untreated patient, with no therapeutic indication at the time of inclusion and having a diagnosis older than 2 years (non progressive disease)
- Patients must have a social security system
Exclusion Criteria:
- Age <12 years old
- Gaucher disease unproven
- Gaucher disease treated with therapeutic changes in the previous 3 months, or current treatment different from imiglucerase
- Gaucher disease untreated whose diagnosis was established for under 2 years
Sites / Locations
- CHU Clermont-FerrandRecruiting
Arms of the Study
Arm 1
Experimental
Imiglucerase
Primary purpose: to evaluate the pharmacokinetics of Imiglucerase activity into target cellular compartment depending on dose and frequency of infusions. Secondary purposes : 1) to establish a possible relationship between the intra-monocytic activity of glucocerebrosidase and the clinical and biological activity of Gaucher disease and to define a possible threshold value of enzyme activity; 2) to establish a better correlation with known biomarkers of disease (routine markers and markers recently identified), which would better predict and / or monitor response to treatment ; 3) to compare the residual and natural rate of activity enzyme intra-monocytic for untreated patients (low severity disease).