Accelerating novel therapies - our impact
In this theme we will build our capacity to offer clinical trial options to children affected by rare and complex conditions who have limited treatment options. To do this we will invest in more staff who are trained to deliver specialist treatments as well as recruiting more trial design and regulatory experts.
You can read more about some of the ways research from our theme is already having an impact.
New treatments to improve children's lives
In the last 5 years, our research has contributed to life-changing new treatments for rare diseases getting regulatory approval in Europe and the USA, with the potential to affect millions of people, worldwide.
From leading lab-based drug development to running clinical trials, and collaborating with global teams to providing evidence that supports drug approval, we have played pivotal roles.
Supported by our NIHR Clinical Research Facility we have also taken part in 53 phase 1 and 83 phase 2 clinical trials of novel interventions for children and young people with rare or complex diseases.
Newborn screening to treat Spinal Muscular Atrophy (SMA) before symptoms appear
SMA, a rare genetic condition, causes progressive muscle weakness and poor movement due to loss of muscle function. It is usually diagnosed when the child is over four months old and is not moving normally. Three studies, two from GOSH, have recently shown that a treatment called Zolgensma can improve the symptoms for children with SMA.
Zolgensma is a new gene therapy that, when injected, reaches brain cells responsible for muscle function. Children with SMA who were given Zolgensma showed increased movement and breathing improvements. However, children given the treatment who were already at an advanced stage of the condition continued to experience significant disability.
BRC researchers were instrumental in delivering a clinical trial (Sprint) in which Zolgensma was given to children with SMA in the first month of life, well before they showed symptoms. These children were identified either via newborn screening or as a newborn tested and diagnosed because of a sibling with SMA.
The results of this ongoing study demonstrate that the majority of those who took part in the trial met normal walking and movement milestones. In fact, their development appears to be the same as children without SMA.
Zolgensma is now approved for use in the NHS and our results show that we need to find a way to identify children with SMA as early as possible, so that they can have this treatment before they have symptoms and permanent damage.
Our BRC, in collaboration with the GOSH Newborn screening laboratory, with a small amount of funding from Biogen, and in consultation with the UK Newborn Screening Committee, has piloted a study to understand whether a test for SMA could be included in the Guthrie blood spot – the so-called ‘heel-prick’ test, which all newborn babies get around 10 days of age. We have now examined 5,000 Guthrie cards, including some known to have SMA, and we correctly identified the positive results from infants with SMA.
We presented our findings to a meeting of the NHS Newborn Screening committee, NICE (the body responsible for healthcare guidelines in England and Wales), and patient advocacy groups – the meeting agreed we should submit an application in 2022 to include SMA testing in 10-day heel prick test. If approved and implemented this will improve the lives of the around 100 children born each year with SMA and their families.