Translate
Alport syndrome is caused by a change in a single gene which leads to a missing protein within the kidney.
As a result, the kidneys become ‘leaky’ and cannot filter the blood properly. Over time, people with Alport syndrome suffer from deteriorating kidney function, as well as hearing loss and sight problems.
Current available treatments only slow down the progression of the disease, rather than providing a cure.
For 8% of patients with Alport syndrome, their condition is caused by a severe type of genetic change called a premature stop codon.
Stop codons are pieces of genetic material in our DNA which act like full stops. They tell cells that they have come to the end of a section of genetic code. That section of code is then used to produce a protein – the building blocks of our bodies.
However, in people with this type of Alport syndrome, the stop codon for this kidney protein comes too early and prevents the full gene being read - meaning the protein can’t be produced.
But a new therapy, being trialled by Professor of Nephrology Daniel Gale, works by telling cells to ignore this premature stop codon.
Three people with Alport syndrome, including two 12-year-olds and an 18-year-old, received the treatment, a daily injection, for two months as part of a phase 2 trial.
In work presented at the American Society of Nephrology in San Diego, Professor Gale reported that biopsies of the patients’ kidneys showed that, following the treatment, the kidney cells in all the patients appeared healthier and, in one patient, the missing protein became detectable in the kidney cells.
He said: “These results are promising because this is the first time doctors have been able to replace a missing protein in the specialised filtering cells in the kidney in a person with a genetic disease, and this seemed to make the kidney cells look markedly healthier.
“The next step will be to arrange for a longer trial involving more patients to see if the treatment can reduce the amount of proteins leaking into the urine, which would suggest a reduced likelihood of kidney failure in the future.”
Finding suitable patients to participate in the trial was challenging and only possible thanks to the NHS Genomics Medicine Service and the UK Kidney Association’s National Registry of Rare Kidney Diseases (RaDaR) which allows patients interested in participating in research studies to be contacted wherever they are in the country.
He said: “For our trial to be successful we needed to identify patients with this type of rare but severe genetic change who still had good kidney function. This meant participants needed to be teenagers or younger adults whose condition had not yet progressed.
“Thanks to the NHS Genomic Medicine Service and the RaDaR registry, we were able to do this. Developing new treatments for genetic kidney diseases is difficult and the research team is incredibly grateful for the patients and their families for participating in this study.”
Image: Professor Daniel Gale
