Treatment

Two FDA approved treatments are currently available for the management of Gaucher disease:  Cerezyme, an enzyme replacement therapy, and Zavesca, a substrate reduction therapy.  It is important to note that neither of these options is curative, so patients must receive treatment for the rest of their lives in order to maintain the therapeutic benefits.

Cerezyme, developed by Genzyme Corporation, was introduced in 1994 and is considered to be the standard treatment for type 1 Gaucher disease.  It serves to supplement the body’s naturally occurring enzyme – glucocerebrosidase – that is present in decreased levels among those affected by Gaucher disease.  Like glucocerebrosidase, Cerezyme works by breaking down the fatty substance that accumulates in the cells.  It is administered intravenously (through the vein), typically on an every 2-week basis.  To find out more, visit www.cerezyme.com

Zavesca, by Actelion Pharmaceuctials, has become available more recently and is only indicated for adults with mild-to-moderate type 1 Gaucher disease for whom enzyme replacement therapy is absolutely not an option (i.e. severe allergic reaction to Cerezyme).  It works by reducing the amount of fatty substance produced by the cells (substrate), thereby enabling the decreased amount of naturally occurring enzyme to better maintain equilibrium.  Zavesca is administered orally 3 times a day.  To obtain additional information, visit www.zavesca.com

Research on Gaucher disease has yielded some promising future treatments, including gene therapy, stem cell transplantation, and pharmacological chaperoning.  For a list of ongoing clinical trials, visit www.clinicaltrials.gov