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Lysosomal Storage Disorders: FDA Approves Oral Therapy For Gaucher Disease

August 19, 2014

This is the eleventh Blog Post in a continuing  series that examines Lysosomal Storage Disorders (LSDs) in the rare disease and orphan drug space. This Blog Post reviews the August 19th FDA approval of Genzyme’s orphan drug Cerdelga (Eliglustat). Cerdelga is the only first-line oral therapy approved for the treatment of adults with Gaucher Disease (GD) Type 1.  A small number of adult patients who metabolize Cerdelga more quickly or at an undetermined rate (as detected by an established genetic lab test), will not be eligible for treatment with the drug.  Cerdelga is expected to be available within a month. Marketing applications for Cerdelga are under review by the European Medicines Agency (EMA) and other regulatory authorities.

GD is a LSD caused by a defect in a particular enzyme which breaks down fatty substance, or lipid, called glucocerebroside. As a result, glucocerebroside accumulates in cells and organs in the body, which prevents them from working correctly. There are three subtypes of GD:

•   Type 1 is the most common form of GD with swelling, enlargement, and dysfunction of the spleen and liver; also, lung and bone problems

•   Type 2 causes brain damage and death before two years of age

•   Type 3 is progressive and affects the brain, with patients living often into their early teens and adulthood.

Genzyme has been researching an oral therapy for GF for 15 years.  “The Cerdelga clinical development program is the largest ever conducted in Gaucher disease, with approximately 400 patients treated in 29 countries.” Ceredelga will help to expand and protect Genzyme’s GD franchise and will also increase the company’s market share further. Pharmaceutical companies often develop oral therapies to complement or replace their injectable therapies, as a way to protect their franchise.

According to David Meeker, M.D., Genzyme President and CEO:

“More than 20 years ago, Genzyme introduced the world’s first treatment for Gaucher Disease. We are proud to build on this legacy and continue to improve Gaucher patients’ lives through ongoing research and new therapies ….”.

The current Standard of Care (SOC) for GD, is Genzyme’s orphan drug Cerezyme, an Enzyme Replacement Therapy (ERT) requiring regular intravenous infusions for life. Genzyme pioneered ERT for GD with Cerezyme, which has enjoyed a period of market monopoly. Competition in the form of two new ERTs, Shire’s Vpriv and Pfizer/Protalix BioTherapeutics’ Elelyso, start to appear in 2010 as the new players in the GD marketplace. The GD ERT market is crowded with only a patient population worldwide of less than 10,000.

It is important to note the difference between Cerdelga and the ERTs. Cerdelga is a specific ceramide analogue inhibitor of glucosylceramide synthase, which inhibits the accumulation of fatty deposits in cells. An ERT like Cerezyme, breaks down the fatty deposits that build up in cells.

The following chart shows the three dominating injectable ERTs currently on the market:

Gaucher Disease Injectable ERT Market

Drug Name Sponsor Company FDA Orphan Drug Designation Date/ Indication FDA Approval Date/ Indication
Cerezyme (Imiglucerase ) Genzyme (Sanofi) Nov 1991/ GD Types 1, 2, & 3 May 1994/ GD Type 1
Vpriv (Velaglucerase Alfa) Shire June 2009/ GD Feb 2010/ GD Type 1
Elelyso (Taliglucerase Alfa)  Pfizer/Protalix BioTherapeutics Sept 2009/ GD May 2012/ GD Type 1


Please Note: “First Pigment Analysis (5893349712)” by NASA ICE (First Pigment Analysis Uploaded by russavia) [CC-BY-2.0] | Wikimedia Commons.

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