New treatments

GOSH researchers have a long history of contributing to new ideas impacting patients. Solely between 2017 and 2022, our researchers have contributed to 11 life–changing new treatments obtaining regulatory approval in Europe and the USA, with the potential to affect many millions of people worldwide.

From leading lab–based drug development and running clinical trials, to collaborating with global teams and providing evidence that supports drug approval, GOSH has played so many pivotal roles in developing new treatments supported by our NIHR Clinical Research Facility.

Zolgensma is a new gene therapy that, when injected, reaches brain cells responsible for muscle function. Children with a degenerative and eventually fatal muscle disorder called Spinal muscular atrophy (SMA) can now receive Zolgensma to improve their movement and breathing thanks, in large part, to our research.

Zolgensma is now approved for use in the NHS and results show we need to find a way to identify children with SMA as early as possible, so they can receive this treatment before symptoms develop and permanent damage has taken place.

In fact, ongoing studies at GOSH, led by Professor Francesco Muntoni, Consultant Paediatric Neurologist and Lead of the NIHR GOSH BRC Novel therapies Theme, are showing that genetic screening can be used to find children likely to be affected by SMA, even before they show symptoms. Giving children Zolgensma early is allowing them to meet all the normal walking and movement milestones for healthy children their age. Our teams are now working to include SMA screening as standard within the new–born ‘heelprick’ test.

For some treatments, gaining regulatory approval is just the start of the journey to achieve patient impact. For example, our researchers were involved in a drug called Brineura being approved by the European Medicines Agency in 2017, and finally becoming available for use on the NHS in 2019. It is an enzyme replacement therapy for children with CLN2 type Batten’s disease (CLN2). CLN2 disease means that children don’t produce a specific enzyme that is responsible for recycling waste materials in cells in the central nervous system. Without this enzyme, there is a waste build–up that first causes seizures, then gradual decline in ability to walk, speak and see, as well as progressive dementia. The life expectancy for a child with this disease without treatment is 10–12 years old.

Brineura is a life–changing treatment and has been shown to restore enzyme activity and slow the onset of disability. However, although it’s effective in preventing movement and speech loss, this brain infusion does not prevent children losing their sight.

The treatment cannot cross the blood– retinal barrier meaning the nerves in the eye cannot function and children lose vision. In follow–on research at GOSH, Retinal Surgeon Rob Henderson and Professor Paul Gissen, Consultant in Paediatric Metabolic Diseases and Lead of the NIHR GOSH BRC Gene, stem and cell therapies Theme, are now using the tiny amount of the drug leftover from the brain infusion and injecting it directly into the eye as part of a compassionate use programme at GOSH.

This eye injection is a quick and common procedure and, with no effective treatment option for blindness in CLN2 disease, this treatment could help preserve children's sight for longer, transforming their quality of life.