Jose Manuel Morales MD, PhD, Presenter: Nothing to Disclose

Antonio Cano-Rodriguez MD, Abstract Co-Author: Nothing to Disclose

Victor Manuel Encinas MD, Abstract Co-Author: Nothing to Disclose

To study the reversibility of therapeutic effects upon interruption of enzymatic therapy after a prolonged shortage of human recombinant glucocerebrosidase treatment (Imiglucerase, Cerezyme® Sanofi), and to determine the posterior replacement by physiological lipids after the restart of it.

Fourteen patients with Gaucher’s disease underwent long-term enzyme replacement therapy in our hospital. All of them had been clinically, biochemically and radiologically stable for at least four years before production of the enzyme was abruptly interrupted. Of these fourteen patients, six were excluded from the study for not having had a previous MRI scan, or for displaying results with artifacts. In the remaining eight, the last MRI scan prior to the beginning of the supply shortage (A: “baseline MRI” scan) was compared with the first of the scans performed when the shortage ended (B: “post-deprivation MRI” scan). To assess the reversibility of the pathological infiltration following the resumption of treatment, we compare this second study with a third MRI scan, performed after the restart of the therapy (C: “post-resumption” MRI).

In seven of these eight patients, a diffuse progression was confirmed in the infiltration of vertebral marrow by pathological Gaucher tissue when the post-deprivation images were compared with images corresponding to the baseline studies In all of these seven cases, the post-resumption MRI showed a tendency to recover the basal state, following the restoration of the usual enzyme dose.

The forced deprivation of enzyme treatment in the population of patients with Gaucher’s disease caused by the global enzyme supply shortage which followed the interruption of its production from September 2009 to October 2010, allowed us to confirm, in the majority of our patients, both the reversibility of the therapeutic effects of imiglucerase on bone marrow once its periodic administration is interrupted, and the tendency of this pathological infiltration to disappear following re-administration of this enzyme.

To our knowledge, the accidental world shortage of the enzyme replacement therapy, allows for the first time to prove the reversibility of the therapeutic effects of imiglucerase on bone marrow.

Morales, J, Cano-Rodriguez, A, Encinas, V, Imiglucerase Shortage: Effects in Patients with Gaucher Disease.  Radiological Society of North America 2014 Scientific Assembly and Annual Meeting, - ,Chicago IL. http://archive.rsna.org/2014/14002667.html