GlaxoSmithKline (GSK)GlaxoSmithKline (GSK) has announced the formation of a new standalone unit specialising in the development and commercialisation of medicines for rare diseases. Over 5,500 rare diseases have been identified(1) of which less than 10% are currently being treated(2), presenting a significant unmet medical need. Despite the rarity of each condition, the number of diseases means that between 6-8% of the population(3) may be affected by a rare disease.

Many are genetic in origin, start in childhood and cause lifelong debility and premature death.

Operating under a lean structure, Marc Dunoyer, GSK's President of Asia Pacific and Chairman of Japan, will lead this new operation, working closely with Patrick Vallance, GSK's Senior Vice President of Drug Discovery. The new unit will seek to leverage existing capabilities and partnerships and establish further in-licensing opportunities.

During 2009, GSK entered into strategic collaborations with two specialist companies, Prosensa and JCR Pharmaceuticals.

The alliance with Prosensa, announced in October 2009, focuses on nucleic acid based therapeutics, correcting gene expression in diseases with large unmet medical needs. The scope of the alliance includes four RNA-based compounds intended to treat specific, but different, subpopulations of patients suffering from Duchenne Muscular Dystrophy (DMD).

As part of the agreement with JCR Pharmaceuticals, a Japanese developer and manufacturer of bioactive products, GSK has obtained global rights to a number of enzyme replacement therapies that could, upon approval, be used to treat orphan diseases such as Hunter syndrome, Fabry disease and Gaucher disease.

Marc Dunoyer, GSK's President of Asia Pacific and Chairman of Japan, said: "In addition to our existing discovery effort, alternative opportunities need to be explored to make treatments available for rare diseases. This complementary approach will combine our existing global expertise with specialist partners. Overtime, this new unit has the potential to deliver multiple therapies responding to high medical needs of underserved populations of patients."

Patrick Vallance, GSK's Senior Vice President of Drug Discovery, said: "The entry into this new therapeutic area forms part of GSK's strategy to deliver more products of value and improve returns in R&D through a focus on areas with a higher probability of success. The risk associated with product discovery and development in rare diseases is generally lower than other disease areas as disease definitions are very clear and clinical trials tend to be small with robust endpoints. In most cases the molecular target is known, making it easier for specialised physicians to diagnose patients."

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1.; portal for rare diseases and orphan drugs
2.; analysis of approved therapies (249 in the US since 1983) vs. known rare diseases
3. "Rare Diseases: Understanding this Public Health Priority." European Organisation for Rare Diseases, November 2005