GlaxoSmithKline has become the first big pharma firm to file for a European marketing authorisation for a gene therapy to treat a rare immune disease affecting children.

The British firm, along with Italian research partners Fondazione Telethon and the San Raffaele Hospital in Milan, filed an application with the European Medicines Agency for GSK2696273.

The investigational gene therapy is a potential treatment for adenosine deaminase severe combined immunodeficiency syndrome (ADA-SCID) – also known as ‘bubble boy disease’ – for whom no suitable human leukocyte antigen (HLA)-matched related stem cell donor is available.

ADA-SCID is an ultra-rare disease affecting only a dozen or so children in Europe every year. Those born with this condition have a faulty gene inherited from both parents that stops them producing an essential protein called adenosine deaminase (ADA), which the body needs to make lymphocytes (a type of white blood cell).

For more details, go to: http://www.pharmafile.com/news/396244/gsk-files-ultra-rare-disease-application-ema