Novel therapies for translation in childhood diseases

Theme Lead: Professor Francesco Muntoni

Deputy Theme Lead: Professor Paul Gissen

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. We will be continuing to work closely with patient and public advisory groups to ensure that the patient voice is heard from the very early stages of development of these novel trials.

We also aim to more fully map the characteristics of patients with rare diseases to help us identify new drug targets. By pooling information from novel imaging technologies, and laboratory tests of biological samples, we will be able to monitor disease progression and response to treatments more effectively.

Novel Therapies theme funding call are advertised here.

Latest research

Learn about the latest research from the Novel therapies for translation in childhood diseases theme

Novel therapy for Battens Disease available on the NHS

Patients at Great Ormond Street Hospital (GOSH) and across England are set to receive treatment for the rare nervous system condition Battens Disease, following a deal between the NHS and manufacturer Biomarin. The drug, which is called cerliponase alfa or Brineura, has been approved by the NHS following successful clinical trials at GOSH in collaboration with other centres from across the world. 

European clinical trial for Kawasaki disease to be led by GOSH and ICH researchers

Researchers at the UCL Great Ormond Street Institute of Child Health (ICH) and Great Ormond Street Hospital (GOSH) are to lead a new clinical trial for Kawasaki syndrome (KD-CAAP), a rare immune system condition that causes swelling of the blood vessels of the heart and can lead to severe fever and risk of heart problems such as aneurysms.