Developing gene therapy to treat PFIC3
Progressive familial intrahepatic cholestasis type 3, known as PFIC3, is a rare genetic condition caused by faults in the ABCB4 gene, which provides the instructions to make a protein needed for healthy liver function.
Symptoms often start in early childhood and cause children to suffer from jaundice – yellowing of the skin and whites of the eyes – and severe itching. It can also affect a child's brain development, eyesight and growth.
Sadly, symptoms only get worse over time before leading to complete liver failure. The only potentially curative treatment is a liver transplant but there are not enough donor livers and it is a major operation that has risks of serious complications.
Alternative less invasive treatments are desperately needed. That's why we are supporting Professor Gissen and his team at UCL Great Ormond Street Institute of Child Health who are developing a new type of gene therapy that offers hope of a safer treatment for children with PFIC3.
If successful, this innovative gene therapy could help to transform the lives of children with PFIC3 – sparing them from the long waits and complications often associated with liver transplants.
Gene therapy – the process of replacing a faulty gene with a working copy – has been successfully used for the treatment of many other genetic diseases and shown to be safe.
Typically gene therapy involves a patient’s cells being modified in a laboratory before being injected back into the body. However, Professor Gissen's team are investigating whether a new style of gene therapy where the gene therapy is delivered directly into the liver offers a more effective treatment for PFIC3.
If the results are promising, this work could be a stepping stone towards setting up a clinical trial which could help improve the outlook for these children.
It could also pave the way to the development of similar gene therapies for children with other severe liver diseases in the future.
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