Shire Plc, the global specialty biopharmaceutical company, has submitted a MAA to the European Medicines Agency for velaglucerase alfa, the company’s enzyme replacement therapy in development for the treatment of type-1 Gaucher disease. This is the third marketing application for velaglucerase alfa that has been submitted, with previous submissions in the United States and Canada.

Based on a global supply shortage of the currently approved and marketed treatment for patients with Gaucher disease, and positive results from all three velaglucerase alfa Phase III trials, CHMP has accepted the company’s request for an accelerated assessment of the velaglucerase alfa MAA. The MAA review is expected to begin in the December cycle. Under accelerated assessment, the review timeline of the MAA is shortened from 210 days to 150 days.

“Gaucher disease is a debilitating condition and the continuing imiglucerase supply shortage has had a significant impact on patients who have lacked an alternative supply of enzyme therapy,” said Timothy Cox, professor of Medicine at the University of Cambridge and the founder of the National Centre for the Treatment of Gaucher disease at Addenbrooke’s Hospital. “Shire’s partnership with health regulators and physicians to devise and implement expanded access programs for velaglucerase alfa is greatly appreciated by treating physicians and the Gaucher community at large. We welcome the news of the submission of the velaglucerase alfa MAA in Europe.”

In Europe and other countries outside the US patients continue to receive velaglucerase alfa through pre-approval access programs that were developed in partnership with national and regional authorities and designed specifically to address the continuing supply shortage. In the US, patients continue to be enrolled in an FDA-approved treatment protocol that has been open since September 2009.

Gaucher disease is an autosomal recessive disorder caused by mutations in the GBA gene which results in a deficiency of the lysosomal enzyme beta-glucocerebrosidase. This enzymatic deficiency causes an accumulation of glucocerebroside, primarily in macrophages. In this lysosomal storage disorder (LSD), clinical features are reflective of the distribution of Gaucher cells in the liver, spleen, bone marrow, skeleton, and lungs. The accumulation of glucocerebrosidase in the liver and spleen leads to organomegaly. Bone involvement results in skeletal abnormalities and deformities as well as bone pain crises. Deposits in the bone marrow and splenic sequestration lead to clinically significant anemia and thrombocytopenia.