19 June 2018

Research projects look into effective treatments for CDH

Congenital Diaphragmatic Hernia (CDH) is a life-threatening condition that occurs when a baby’s diaphragm doesn’t form properly in the womb. This leaves a hole that allows the contents of the abdomen to rise up through the diaphragm, preventing the lungs from forming correctly and pushing the heart and windpipe over to the wrong side.

We don’t yet know what causes it to happen.

Children with CDH need surgery soon after birth to reposition their organs, but those with severe forms can also experience long term health problems, including lung disease, issues with feeding and digestion, and stunted growth and development. There are around 300 new cases of CDH each year in the UK, with roughly 3500 children affected in the UK in total. Most cases are diagnosed after the mother’s 20-week scan, but others are picked up later in pregnancy or even after the child is born. In rare cases, the condition isn’t diagnosed until adulthood.

The survival rate for CDH is currently around 50%.

CDH UK provides a vital support service for families and medical professionals, as well as promoting and funding research. CDHUK are currently funding four research projects, supported by Sparks and GOSH Charity, which aim to find more effective treatments for CDH.

Effective treatments for CDH: research projects

CDH

Improving support for children with CDH now and in the future

Thanks to advances in intensive care, most babies with CDH now survive to go home in the first months of life.  However, many have on-going health problems in childhood and beyond. We don’t yet fully understand how CDH affects children throughout their lives. It’s not clear which conditions they are prone to, how often they need treatment, and how the condition affects their quality of life, including crucial things like education.  This makes it difficult to plan the best support services for these children.

Dr Neil Patel at the Royal Hospital for Children in Glasgow wants to change this situation and improve our understanding of the long-term effects of CDH. His team will study a group of 400 patients to learn which health services they use, the conditions they are affected by, and any educational support they need. This will help families to plan for the future, while providing vital information to ensure health and education services are designed to meet the very specific needs of CDH patients. Dr Patel’s research should help to minimise disruption in the lives of children with CDH, giving them the best chance of fulfilling their potential.

Tackling high blood pressure in children with CDH

Because CDH affects the way blood vessels form in the lungs, around two-thirds of patients are born with severe high blood pressure. This can be life-threatening if not addressed quickly. CDHUK funds two projects, with support from Sparks and GOSH Charity, that aim to find ways to improve high blood pressure in children with CDH.

Which drugs are most effective?

There are several drugs used to treat high blood pressure in children with CDH. But it’s not clear which are the most effective. To address this, Professor Dick Tibboel of the Erasmus University Medical Centre is leading a major collaboration between hospitals around the world. The team will look at a large pool of patients over a period of time, to see which drugs are most effective at treating high blood pressure. Ultimately, they plan to feed any findings into international guidelines, to ensure that all newborn children with CDH receive the treatment most likely to work.

Could existing drugs be used during pregnancy?

Researchers have developed an incredible new technique for treating CDH before a child is born, by operating on the fetus in the womb. This fetal surgery, pioneered for the first time in the UK by a team at GOSH and University College Hospital (UCLH), has helped to reduce breathing problems in children with CDH. The surgery has been less successful, however, in reducing high blood pressure.

Professor Jan Deprest and his team at the UCL GOS Institute of Child Health (ICH) are on the hunt for new ways of treating CDH-related high blood pressure. They want to see whether an existing blood pressure drug, if given to women over the course of their pregnancy, could help the unborn baby to develop normal lung structure and reduce the risk of the child being born with high blood pressure.

Professor Deprest and his team will carry out essential lab work to see whether this approach is feasible. They will test the effectiveness of the drug and look at how much should be administered to get the best result. Once complete, the team’s work should help to propel this idea from the lab into the clinic, giving children a chance to avoid this life-threatening symptom of CDH.

Growing patient-matched organs in the lab to repair CDH

Current surgical techniques to repair damage caused by CDH can leave children with long-term problems, such as repeated infections or changes in the shape of structures in their spine or chest.

World-renowned GOSH surgeon and researcher Professor Paolo De Coppi is looking for better surgical solutions for children with CDH. His team have pioneered incredible new techniques that use a patient’s own cells to grow functional organs in the laboratory. The approach has already been used successfully in patients with other conditions and carries no risk of rejection, as the organs are grown from children’s own cells.

Professor De Coppi wants to use this approach to build a new working diaphragm for children with CDH. This would involve removing stem cells from the baby before it is born, transforming these into muscle cells in the lab, and using those cells to populate a ‘scaffold’ – an animal diaphragm stripped of all its own cells. This structure could then be transplanted into the child, replacing their damaged diaphragm with a healthy, working one that carries no risk of rejection. This incredible project could lead to a safer, more effective treatment for all children with CDH.