Royal Free Hospital and Great Ormond Street Hospital are looking for a small group of Alport patients aged 6-30 with certain gene changes (nonsense mutation) to participate in a clinical trial of testing a new treatment

Eloxx, a pharmaceutical company, is testing a new treatment that they think might help certain people with Alport Syndrome. Alport syndrome is caused by changes (called mutations) in certain genes. Only a very small proportion of gene changes (called ‘nonsense mutations’ which account for approximately 3-5% that cause Alport syndrome) are potentially treatable by this new testing treatment (called ELX-02). The main goal of this study (called EL-014) is to learn whether ELX-02 is safe in Alport patients and whether it improves kidney function and hearing. The study has trial sites in the UK and Australia. Patients who participate in RaDaR (the UK national registry of rare kidney diseases, which is open at 107 hospitals across the UK), have mild kidney damage and have had a genetic test showing that they have the relevant type of gene change (a nonsense mutation) may be eligible to take part of the study.

If you are in the UK and want to find out more about RaDaR and genetic testing, please ask your kidney doctor. If you are not in RaDaR but would like to find out whether you are suitable for the Eloxx study, please contact one of the sites below. Please note that the study team will need to know your genetic test result and latest kidney function reading (called eGFR) to be able to tell whether you might be eligible for this study.

Details of sites running the Eloxx clinical trial

UK – If you want to know if your genetic variant is eligible for the trial, please phone +44 207 472 6491. Please note, you may need to leave a message and they will call you back.  

Australia – Monash Health, Melbourne (adults) – Prof. Kerr –

Criteria for people appropriate for the Eloxx study include:

  • Are 6-30 years of age (inclusive)
  • Have a confirmed diagnosis of X-linked Alport syndrome with a nonsense mutation in COL4A5, or a diagnosis of autosomal recessive Alport syndrome with at least one nonsense mutations in either COL4A3 or COL4A4 
  • Have over a certain value of kidney filtration rate (eGFR >60ml/min/1.73m2)
  • Have not received a kidney transplant
  • Live in UK or Australia or willing to travel to those countries
  • Available for 60 days treatment with bi-weekly visits, followed by 3 months with monthly visits

If you would like to find out what type of mutation you have, please see this recent podcast: Clinical trials and how to read your genetic test results 

Important: Providing information about a trial does not mean it is being recommended by Alport UK; we are purely reporting the existence of trials. 

Comments are closed.

» Back to Alport UK news