Dec 8 Gaucher Disease

Gaucher Disease: “Autosomal Recessive Lysosomal Storage Disorder”

Gaucher Disease is an inherited metabolic disorder which occurs due to the deficiency of the enzyme glucocerebrosidase which plays a major role in catalyzing the hydrolysis of glucosylceramide (or glucocerebroside). It ultimately results in the accumulation of harmful quantities of lipids such as the glycolipid glucocerebroside, within the bone marrow, spleen and liver.

Gaucher Disease is classified as Non-Neuronopathic Gaucher Disease and Neuronopathic Gaucher Disease on the basis of neurological involvement. Type 1 GD is Non-Neuronopathic Gaucher Disease in which brain and central nervous system are not involved. Type 2 GD and Type 3 GD is Neuronopathic Gaucher Disease which is characterized by the involvement of the brain and central nervous system.

As per “National Organization for Rare Disease”, approximately 6,000 number of people are suffering from Gaucher Disease in 2013. High prevalent cases of GD are observed in United States as compared to the EU 5 (United Kingdom, France, Germany, Spain and Italy) and Japan. Among the European countries, Germany has the highest prevalent cases whereas United Kingdom has lowest prevalent cases. Type 1 GD is the more prevalent GD as compared to Type 2 GD and Type 1 GD

 

The therapeutic market for Gaucher Disease in seven major markets is expected to USD 1,370 Million by 2027. Among these markets, United States has the largest market share whereas Spain has the lowest market share. The therapeutic market is dominated by the use of Enzyme Replacement Therapy and Substrate Reduction Therapy for the treatment of Gaucher Disease.

Cerezyme (Genzyme), Vpriv (Shire Pharmaceuticals) and Elelyso (Pfizer) are the Enzyme Replacement Therapies approved for the treatment of Gaucher Disease.  Among them, Cerezyme (Genzyme), and Vpriv (Shire Pharmaceuticals) are the most effective Enzyme Replacement Therapy for the treatment of GD.

Substrate reduction therapy such as Cerdelga (Genzyme) and Zavesca (Actelion Pharmaceuticals) aims at reducing the rate of glycosphingolipid synthesis by partially inhibiting the enzyme, GlcCer synthase. Substrate Reduction Therapy provides more convenient dosing as compared to the Enzyme Replacement Therapy.

Approval of the upcoming therapies such as Arimoclomol (Orphazyme ApS) and Venglustat (sanofi-genzyme) in 2024 and 2026 respectively shall fuel the growth of the market in upcoming years. Among those therapies, Arimoclomol (Orphazyme ApS) is a Chaperone Therapy which is the new therapies for the treatment of GD. Introduction of Chaperone Therapy will change the treatment landscape for GD in upcoming years.

The overall market for Gaucher Disease is not expected to show any drastic increase as there are no blockbuster drugs in the pipeline and the drugs present in the pipeline are in the Pre-Clinical and Discovery stages which adds another 15- 20 years for the drug to reach the market.

Insights by:
Diksha Wadhwa

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