Rare Disease Report

Diagnosing Gaucher Disease Still A Problem

JANUARY 10, 2015

In this exclusive interview with Neal Weinreb MD, FACP, Director of the  University Research Foundation for Lysosomal Storage Diseases Inc in Coral Springs and Boca Raton, Florida, Dr. Weinreb discusses one of the major problems still facing the Gaucher patient - being diagnosed.

About Gaucher Disease

Gaucher disease is an inherited lysosomal storage disorder in which a deficiency of the enzyme glucocerebrosidase leads to the accumulation of the lipid glucocerebroside within the lysosomes of the monocyte-macrophage system. The most common form of this rare disease is Gaucher type 1 and its current treatment options are:
  • Cerezyme (imiglucerase for injection):  Cerezyme is the gold standard for ERT and has been treating people with Gaucher disease since 1994. It is administered by intravenous infusion every 2 weeks
  • Elelyso (taliglucerase alfa): Elelyso was approved by the FDA in June 2012 for the treatment of Gaucher disease type 1 in adults and approved August 2014 for treatment in children.  The key biochemical difference of Elelyso compared to the above enzyme replacement therapies is that it is derived from plant (carrot). It is administered by intravenous infusion every 2 weeks.
  • Vpriv (velaglucerase alfa for injection): Vpriv was approved in March 2010 of Vpriv and has also been shown to relieve or reverse many of the signs and symptoms of Type 1 Gaucher disease.  It is also an enzyme replacement therapy and administered by intravenous infusion every 2 weeks.
  • Zavesca (miglustat). In addition to the above ERTs, there is also the option of using substrate reduction therapy for adult patients who cannot take enzyme replacement therapy. Zavesca was approved by the FDA in July 2003. It is an oral medication (3 times per day).
  • Cerdelga (eliglustat): Cerdlelga is the first non ERT that can be used instead of ERT (unlike Zavesca that is only approved for patients who cannot take ERT). It was approved in August 2014.

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