Over the years, scientific discoveries have spurred the pharmaceutical industry to look at new and innovative ways to treat disease. Our understanding of disciplines such as molecular and cell biology, medicinal chemistry and recombinant DNA technologies have led to the discovery and development of small molecules and biopharmaceutical medicines that are widely used today.
Now, outstanding advances in genetics, regulatory pathways and system biology are playing a key role in fundamentally changing our understanding of human biology. With up to three new genetic causes of rare diseases being identified every week and the emergence of novel technologies, such as cell and gene therapy, we are moving to a period where one-time durable treatments addressing the cause of the disease (at gene level) rather the consequences (symptoms) are becoming a reality for severely affected patients.
Cell and gene therapy, which aims to radically change the way we treat genetic diseases, was however not without its setbacks due to safety issues, but due to the perseverance of pioneering scientists, encouraging results were subsequently reported in diseases such as haemophilia B, lysosomal storage disorders and various other rare diseases. It was evident that a new era of medicine was emerging – the last two years have registered a string of positive data demonstrating efficacy in a number of different therapeutic indications.
At GSK, the story started in 2010 when our Rare Disease Unit embarked on a strategic collaboration with Fondazione Telethon and the Ospedale San Raffaele, acting through their joint San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), a world-leading research centre for stem cell therapy in Italy.
While recognising that the use of permanently genetically modified living cells as medicines would pose many challenges, particularly from a regulatory perspective, and manufacturing and batch supply chain stand-points, we believed it was important to be an active player in this innovative and rapidly maturing field of science.
By bringing our medicines development and supply expertise together along with the expertise of the scientists at SR-TIGET, and by engaging with regulatory agencies in a continuous discussion around these activities, GSK and SR-TIGET together were able to optimise, standardise and characterise a manufacturing process that was previously only suitable for clinical trials into one that is robust and suitable for commercial supply.
Through this work we have gained unique insight into human biology as well as into the development of safer viral vectors for transgene delivery and ex-vivo autologous cell processes. Our vision cell and gene therapy as an enabler for transformative treatments has benefitted too: in 2014 we expanded our R&D activities beyond rare diseases to look at the potential of engineered TCRs (T Cell Receptors) to improve the ability of the immune system to fight cancer. Looking beyond these disease areas, we are also exploring how cell and gene therapy could help patients with more common, chronic diseases.
Specialised skills and experience are required to support the growing therapeutic portfolio, to incubate and industrialise novel technologies, to establish new production techniques, to engage regulatory authorities on development and registration strategies, to address logistical challenges in the supply chain and to identify ways to cost-effectively scale-up a very complex scientific process.
Cell and gene therapy is a world apart from the 'small white pill' made in a factory and prescribed to patients through their pharmacy. Yet we believe the potential of applying this approach to help patients with devastating diseases is now clear. GSK's vision is for cell and gene therapy to one day stand alongside the more commonly used small molecule and biopharmaceutical approaches to treat disease.
This commentary was authored by Laurent Jespers, Head of Discovery Research, Cell & Gene Therapy, Platform Technology & Science at GSK, UK.
Every year, Rare Disease Day provides patient and healthcare organisations to raise awareness of rare diseases across the world. The theme of 2017 is 'research' and this years marks the 10th consecutive year RDD has been running. For more information about Rare Disease Day, visit their website