EU/3/11/877

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Orphan designation

On 21 June 2011, orphan designation (EU/3/11/877) was granted by the European Commission to Laboratorios del Dr. Esteve, S.A., Spain, for adeno-associated viral vector serotype 9 containing the human sulfamidase gene for the treatment of mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

What is mucopolysaccharidosis type IIIA?

Mucopolysaccharidosis type IIIA (also known as Sanfilippo A syndrome) is an inherited disease that is caused by the lack of an enzyme (a specialised type of protein) called N-sulfoglucosamine sulfohydrolase. This enzyme is needed to break down a substance in the body called heparan sulphate. Because patients with mucopolysaccharidosis type IIIA cannot break this substance down, it gradually builds up in cells in the body, particularly in the brain, and damages them. This causes a wide range of symptoms, including behavioural problems, learning disabilities, difficulty moving and sleep disturbances. The disease is usually diagnosed in children between two