Stem cell therapy shows potential for treating rare bowel disease

Hirschsprung disease is a rare condition where some nerve cells are missing in the large intestine. This means the intestine cannot contract or move stool and therefore can become blocked. This can cause constipation and sometimes lead to a serious bowel infection called enterocolitis. Around 1 in 5,000 babies are born with Hirschsprung disease. The condition is usually picked up soon after birth and treated with surgery as soon as possible; however, patients frequently suffer debilitating, lifelong symptoms, with multiple surgical procedures often required.

Researchers are now using stem cell therapy in human tissue from people with Hirschsprung disease to generate nerve cell precursors, which then produce the missing nerves in the intestine after transplantation. This in turn could improve the intestine’s functionality. The discovery aims to lead to improved symptoms and better outcomes for individuals with the disease. 

The research is being led by Dr Ben Jevans and Fay Cooper published in Gut and funded by the Medical Research Council, is a collaborative effort between researchers at the University of Sheffield and UCL which began in 2017. Researchers at the University of Sheffield focused on the production and analysis of nerve precursors from stem cells. These were then shipped to the UCL team, who prepared the patient’s gut tissue, undertook the transplantation and maintenance of the tissue and then tested the function of the tissue segments.

The study involved taking tissue samples donated by Great Ormond Street Hospital patients with Hirschsprung disease as a part of their routine treatment, which were then cultured in the lab. The samples were transplanted with stem cell-derived nerve cell precursors which then developed into the crucial nerve cells within the gut tissue. Importantly, the transplanted gut samples showed an increased ability to contract compared to control tissue, suggesting improved functionality of the gut in those with the disease.

Researchers will now be applying for further funding for clinical trials to develop this treatment.