Gaucher Disease Clinical Trial
Official title:
Study of Intra-monocytic Imiglucerase Kinetic and Its Correlation With Clinical and Biological Gaucher Disease
Rational: Imiglucerase has been used to treat Gaucher disease since 1997 but data about its
pharmacokinetics have been partial; investigators know that imiglucerase undergoes a quick
clearance from plasma compartment following the infusion (1/2 life: 1-6 min, from tissue:
<24h), an observation apparently contradictory with usual infusion rhythm (one infusion
every two weeks). Furthermore, by going by GD response, the rhythm of Infusion is sometimes
diminished (for example, every 3 or 4 wks) without pharmacological rational ; In parallel,
investigators demonstrated that monocytes represent a satisfactory surrogate of GD target
cells and that enzyme activity into monocytes varies between individuals.
Our hypothesis is that enzyme activity into monocyte compartment could be different and
could be related to GD response.
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).
Rational: Imiglucerase has been used to treat Gaucher disease since 1997 but data about its
pharmacokinetics have been partial; investigators know that imiglucerase undergoes a quick
clearance from plasma compartment following the infusion (1/2 life: 1-6 min, from tissue:
<24h), an observation apparently contradictory with usual infusion rhythm (one infusion
every two weeks). Furthermore, by going by GD response, the rhythm of Infusion is sometimes
diminished (for example, every 3 or 4 wks) without pharmacological rational ; In parallel,
investigators demonstrated that monocytes represent a satisfactory surrogate of GD target
cells and that enzyme activity into monocytes varies between individuals. Our hypothesis is
that enzyme activity into monocyte compartment could be different and could be related to GD
response.
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).
;
Allocation: Non-Randomized, Endpoint Classification: Pharmacokinetics Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment
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