Shire plc, a global specialty biopharmaceutical company, today announced that it has submitted a Biologics License Application (BLA) with the FDA for REPLAGAL®, the company’s enzyme replacement therapy for Fabry disease. REPLAGAL first received marketing authorization in the EU in 2001, and is approved for the treatment of Fabry disease in 45 countries.

Fabry disease is a rare X-linked recessive (inherited) lysosomal storage disease that can cause a wide range of systemic symptoms. The disease interferes with the body’s ability to break down a specific fatty substance (globotriaosylceramide or Gb3) which accumulates within the body due to deficiency of a specific enzyme (alpha-galactosidase A). It affects both males and females and can present a number of signs or symptoms of variable degree, such as cardiovascular and/or renal dysfunction, intense or burning pain, heat intolerance, skin lesions, gastrointestinal complaints, hearing loss, and ocular problems. Lifespan is typically reduced in patients with Fabry disease by approximately 20 years in men and 15 years in women, compared with the general population. The principal causes of death are renal failure, cardiomyopathy and cerebrovascular events (e.g. stroke). Fabry disease is rare, affecting an estimated 8,000 to 10,000 people worldwide.

REPLAGAL is available to U.S. patients under an FDA approved treatment protocol. Shire is also supporting emergency IND (Investigational New Drug) requests (an application to use an unapproved product for a single patient). Shire worked closely with the FDA to establish an early access program in response to the ongoing shortage of the currently marketed treatment for Fabry disease in the U.S.

Shire Human Genetic Therapies president, Sylvie Gregoire, said, “We continue to deliver on our commitment to the Fabry community by filing a BLA to support long-term access to REPLAGAL in the United States. We understand that this has been a difficult time for patients and we remain committed to doing all we can to support the Fabry community during the supply shortage and for the long-term.”

Shire expects its REPLAGAL supply to be adequate to meet anticipated global demand.