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Research offers hope of a cure for children with genetic bladder diseases that can harm the kidney

30 January 2024

A study recently published by Dr Neil Roberts, Professor Adrian Woolf and their colleagues from the University of Manchester, with the support of funders including Kidney Research UK, has shown for the first time the potential for gene therapy to reverse symptoms of the rare genetic disorder called urofacial syndrome.

A female and a male researcher wearing white lab coats
Dr Filipa Lopes and Dr Neil Roberts

Meeting the needs of patients with inherited bladder and kidney conditions

For all early onset genetic disorders affecting the development and function of the bladder and kidneys, there is currently no cure. A combination of surgery and medications can be used to help manage symptoms and prevent complications, but for individuals living with these conditions the impact is lifelong. Building on previous work, Neil and Adrian have now shown that they can restore bladder function in laboratory-based models of urofacial syndrome. 

What is urofacial syndrome 

Urofacial syndrome is a rare, inherited condition which is often linked to changes (known as mutations) in a gene called HPSE2. Work by Adrian, Neil and their Manchester genetics colleagues has previously shown that because of changes to this gene, muscles that control bladder emptying don’t react normally to messages from nerves. 

The main symptom is being unable to urinate (wee) normally. This means that the bladder never empties completely and because of this severe urine infections can occur and then go on to destroy their kidneys. Affected people often need to have a catheter placed into their bladder several times a day to allow urine to come out, and they may need repeated courses of antibiotics. Even then, kidney failure needing dialysis and transplantation can occur during childhood or adulthood. 

A first for inherited bladder diseases 

Using a laboratory-based model of the disease, Neil and Adrian alongside Dr Filipa Lopes and other colleagues tested a gene therapy technique to put a non-mutated human gene back into the bladder nerves. They found that they could restore near-normal bladder function and the new gene allowed the bladder muscles to respond appropriately to messages from nerves.

Neil commented: “This is the first time that gene therapy has been shown to be successful in an early onset genetic bladder disease, bringing us a step closer to a cure. We will work alongside affected families to map the next steps towards treatment for patients. It will likely be a journey taking a decade of collaboration."

Introducing gene therapy 

The term ‘gene therapy’ describes a technique where a faulty gene is replaced or altered to treat or prevent disease. Conditions that result from changes to a single gene are particularly good candidates for gene therapy. Although further research is needed, gene therapy offers hope of new and effective treatments for certain inherited medical conditions that are currently not curable. 

microscope image of gene cells
Gene therapy in action: the red dots show the gene treatment in bladder nerves

Impact beyond urofacial syndrome

The team in Manchester also hope that their work will support future improvements to the management of other conditions. Adrian added: “We know that urofacial syndrome is quite rare, affecting perhaps several hundred families around the world. On the other hand, it can be a devastating disease and we know that several other rare early onset bladder and kidney diseases are caused by faulty genes, so we hope that this work will be a step towards potentially curative approaches to other inherited bladder and kidney problems in children.” 

Emily Surridge, research communications manager for Kidney Research UK added “The work by Adrian, Filipa and Neil is a great example of working with patients to ensure that exciting scientific progress meets their expectations and needs. This is something that is very important to us at Kidney Research UK and we are delighted to be a part of this work.”

Meet the researcher

Dr Neil Roberts is a scientist and Lecturer at the University of Manchester. Neil’s research focuses on urofacial syndrome, and with the ongoing support of Kidney Research UK and his team, he has made several breakthroughs in our understanding of the genetic and biological mechanisms that lead to this and related conditions. His current study, shows the potential of gene therapy for an inherited bladder disease.

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