Rare Fabry Disease May Soon Receive New Treatment


British drugmaker Shire PLC said Tuesday that it has completed pre-approval facility inspections and has filed for US marketing approval of its Fabry disease treatment Replagal (agalsidase alfa).

Replagal is currently available under Food and Drug Administration restrictions. Patients can only receive the medication as a part of an FDA-approved treatment protocol. The company is now seeking full approval. The drug has been approved for use in Europe since 2001.

Fabry disease is a rare, genetic lysosomal storage disorder (LSD) that interferes with the body’s ability to break down a specific fatty substance called globotriaosylceramide (Gb3) which accumulates in the body due to a deficiency of an enzyme called a-galactosidase A or ceramide trihexosidase.


Other names for Fabry's disease include Anderson-Fabry disease, angiokeratoma corporis diffusum and alpha-galactosidase A deficiency.

Replagal is an enzyme replacement therapy for a-Gal A which may slow the progression of the disease. Other treatments include anticonvulsants for the pain in the hands and feet and metoclopramide for gastrointestinal hyperactivity.

Fabry disease affects about 10,000 people worldwide. Symptoms usually begin in childhood or adolescence and include burning sensation in the hands that worsens with exercise and hot weather, and small raised reddish-purple blemishes on the skin. Other signs include cardiovascular problems such as impaired arterial circulation, renal dysfunction, intense or burning pain, gastrointestinal complaints, hearing loss and eye problems such as clouding of the cornea.

Lifespan is typically reduced in patients with Fabry disease by approximately 20 years in men and 15 years in women. The principal causes of death are renal failure, cardiomyopathy, and cerebrovascular events such as stroke.