Gaucher disease is a rare genetic
disorder in which a person lacks an
enzyme called glucocerebrosidase.
The illness causes fatty materials to
collect in the liver and spleen.
About one percent of the total
population in the US carries the
disease, while among Ashkenazi Jews
carriers can number as many as 10%
of the population.
FDA APPROVES ELELYSO
In May 2012 the FDA approved a new
orphan drug to treat a form of Gaucher
Elelyso (taliglucerase alfa), made by
Protalix BioTherapeutics Inc and Pfizer,
is a long-term enzyme replacement
therapy to treat a form of Gaucher
disease, a rare genetic disorder.
The major signs of Gaucher disease
include liver or spleen damage, low red
blood cell counts (anemia), low blood
platelet counts, and bone problems.
Elelyso is an injection that replaces the
missing enzyme in patients with a
confirmed diagnosis of Type 1
(non-neuropathic) Gaucher disease
and should be administered by a
health care professional every other
week. Type 1 Gaucher disease is
estimated to affect about 6,000 people
in the United States.
Due to the small number of affected
patients, the efficacy of Elelyso was
evaluated in a total of 56 patients with
Type 1 Gaucher disease enrolled in
two clinical trials. Many of these
patients continued treatment on a
longer-term extension study.
Patients were randomly selected to
receive Elelyso at a dose of either 30
units per kilogram or 60 units/kg.
At both doses, Elelyso was effective in
reducing spleen volume, the study's
primary endpoint, from baseline by an
average of 29 percent in patients
receiving the 30 units/kg dose and by
an average of 40 percent in patients
receiving the 60 units/kg dose after
nine months of treatment.
Improvements in liver volume, blood
platelet counts, and red blood cell
(hemoglobin) levels also were
Elelyso is a plant cell-expressed form
of the glucocerebrosidase (GCD)
While Gaucher disease is a rare
condition, the market is lucrative
because of "the severity of the
symptoms and chronic nature of the
disease," according to Carmiel,
Israel-based Protalix's website.
Elelyso will compete with Sanofi's
Cerezyme, approved in 1994, and
Shire Plc's Vpriv, approved in 2010.