test tubes

EU approves Ultragenyx treatment for ultra rare lysosomal storage disorder

Mepsevii has been approved for use in Europe to treat the ultra-rare disease mucopolysaccharidosis type VII (MPS VII), offering patients an approved treatment for the very first time.

MPS VII, also known as Sly Syndrome, is a genetic metabolic lysosomal storage disorder, caused by the deficiency of beta-glucuronidase, an enzyme required for the breakdown of the glycosaminoglycans (GAGs) dermatan sulphate, chondroitin sulphate and heparin sulphate.

The inability to properly break down GAGs leads to a progressive accumulation in many tissues and results in multisystem tissue and organ damage.

Mepsevii (vestronidase alfa) is an enzyme replacement therapy designed to prevent this accumulation of GAGs, approved by the European Commission for the treatment of non-neurological manifestations of the condition.

“Dr William Sly’s science for this treatment has been around for over 25 years and we are honoured to be able to develop and finally make this medicine available to MPS VII patients and families in Europe, people who did not know whether a therapy would ever be available to them,” said Emil Kakkis, chief executive and president of Ultragenyx.

The disease affects approximately 1 in 250,000 new-borns worldwide.

Source: PharmaTimes