Scientists have taken a major step towards curing a childhood kidney disease that often leaves patients needing a transplant.
Researchers found that just a single dose of gene therapy targeting faulty cells has the potential to cure a condition known as steroid-resistant nephrotic syndrome.
The disorder can occur at any age, but most commonly affects those under 5.
Nephrotic syndrome is a condition in which the kidney’s filtering units are damaged, allowing proteins to escape the bloodstream and leak into the urine. Symptoms include swelling in the eyes and legs, increased risk of infection and blood clots.
Most cases can be managed with steroids, but around 10% of children do not respond to the treatment, many of whom will go on to develop kidney failure and need dialysis or a transplant within two to five years.
However, a team from Bristol University hopes that replacing a faulty gene that codes for the protein podocin could cure the condition entirely. Podocin is vital in the functioning of podocytes, cells that play a critical role in the kidney’s filtration system.
Using a modified virus, incapable of causing disease but able to carry genetic information directly into cells, the team was able to replace the original faulty gene, NPHS2, in podocytes in mice.
The virus, called an adeno-associated virus (AAV), has already been used to treat other diseases. While further research is required to ascertain the dosage and safety in human use, the team is confident the technique is not far away from being approved for clinical use.
‘We are hoping that this treatment could be curative,’ said Professor Moin Saleem from the University of Bristol.
‘You keep the same podocytes for life, so if we can change their gene expression right at the beginning of the disease, we should be able to prevent this disease from progressing.
‘With most kidney diseases, there is a reasonable window of opportunity, often years, before you get irreversible damage to the kidneys, where we would hope to be able to intervene with gene therapy and avoid the need for dialysis or transplantation.’
Dr Aisling McMahon, executive director of research and policy at Kidney Research UK, added: ‘If successful, this method could effectively rescue people from a life on gruelling dialysis treatment or from needing a kidney transplant.
‘This work offers real hope for patients impacted by steroid-resistant nephrotic syndrome and potentially other genetic kidney diseases too. We are delighted to see that our funding has helped progress a project that has real potential to be used in a clinical setting.’
The study is published in the journal Translational Medicine.
MORE : AI breakthrough boosts hope for Parkinson’s treatment
MORE : More than 20,000 children waiting over a year for NHS treatment
Get your need-to-know
latest news, feel-good stories, analysis and more
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
