GlaxoSmithKline has been outlining its strategy to treat rare disorders and also has signed an Italian alliance to tackle a form of 'bubble boy disease'.
First up, the drugs major has entered into a strategic pact with Fondazione Telethon, one of the biggest biomedical charities in Italy and its partner Fondazione San Raffaele, gaining an exclusive licence to an investigational gene therapy for ADA severe combined immune deficiency (ADA-SCID) which affects just 350 children worldwide. Phase I/II studies "have demonstrated the potential of this treatment to restore long-term immune function and protect against severe infections in children with ADA deficiency", noted GSK.
ADA-SCID, commonly referred to as the ‘bubble boy disease’, is caused by a mutation in a single gene, and this defect prevents the body from producing the enzyme adenosine deaminase (ADA), which is involved in the creation of disease-fighting immune cells. Patients with this condition are unable to mount their own defence against foreign organisms so without specialist intervention are at risk from life threatening infections. A bone marrow transplant from a matched donor is currently the best treatment option available.
In addition, GSK and its Italian partners will co-develop six further applications of ex vivo stem cell therapy to treat a range of rare disorders. This first of these will be metachromatic leukodystrophy and Wiskott-Aldrich Syndrome, and clinical trials for both of these disorders were initiated last spring. Fondazione Telethon will receive an upfront 10 million euro payment from GSK and is eligible to receive further payments.
The Italian alliance was announced as Marc Dunoyer, head of GSK Rare Diseases unit, laid out the company's plans for the unit. He said that with 6,000–8,000 such diseases, its efforts will need to be focused and "selecting the diseases to target won't be easy and we will need to make difficult choices".
He added that "our aim is to have a list of around 200 priority diseases", which will change over time "as our scientific knowledge and understanding changes". Mr Dunoyer claims that it is therefore "critical that we are close to the rare diseases community and have the most up-to-date information about each disease, such as prevalence and severity, upon which to base our decisions".
He went on to say that "the strong GSK pipeline will give us enormous scope and access to novel compounds with mechanisms we understand that could be utilised to treat rare diseases.” The company will be looking outside as "we know there is a lot of exciting rare diseases work being undertaken at the moment, and we will be looking to augment our in-house capabilities". Mr Dunoyer cited its alliances with Prosensa (Duchenne muscular dystrophy) and JCR Pharmaceuticals (enzyme replacement therapies), as the type of collaboration the firm is looking at.