Inherited SP-B deficiency is a genetic disorder affecting approximately 1 in 1 million newborns in the US and Europe. It results from mutations in the SP-B gene, which is essential for lung function and survival.
Current interventions only provide temporary relief, and once genetic diagnosis of SP-B deficiency is confirmed, treatment is usually withdrawn and patients die. The only definitive treatment, lung transplantation, is often not accessible owing to the scarcity of donor organs for newborns and the risks involved. This leaves few if any viable options for long-term survival.
Professor Deborah Gill says: 'It must be devastating to be told that your newborn baby has a fatal disease for which there is no treatment. Surfactant protein B (SPB) deficiency is a rare disease where a baby is born with severe breathing difficulties. The babies cannot keep their lungs inflated and need mechanical ventilation to help keep them alive. Currently, there is no cure or treatment for this disease, but we think gene therapy could help. We aim to deliver a functional copy of the gene responsible for SPB deficiency deep into the babies' lungs to help them make normal lung surfactant so they can breathe independently.'
Read the full story on the Radcliffe Department of Medicine website.