Exaluren in Alport syndrome participants with nonsense mutation in COL4A3/4/5 genes

• Research type

  Research Study

• Full title

  A Randomized, Double-Blind, Placebo-Controlled, Delayed-Start Study to Evaluate the Efficacy and Safety of Exaluren in Alport Syndrome Patients with Nonsense Mutations in COL4A3/4/5 Genes

• IRAS ID

  1013235

• Contact name

  Christopher Novashinski

• Sponsor organisation

  Eloxx Pharmaceuticals Inc

• Clinicaltrials.gov Identifier

  NCT07523581

• Research summary

  The Sponsor, Eloxx Pharmaceuticals Inc. is running a study to learn how well the study medication, exaluren, works and how safe it is for nonsense mutation Alport Syndrome participants. Alport syndrome (AS) is a rare, progressive hereditary kidney disorder affecting ~1:6500 people and characterised by progressive kidney damage, hearing loss, and eye abnormalities. Nonsense Mutation Alport Syndrome (NMAS) is a clinically severe ultra-rare subset, representing approximately 6–8% of all AS cases. NMAS is caused by a specific type of gene change (called a nonsense mutation) that is associated with most rapidly decreasing kidney function with half of UK patients with NMAS needing dialysis or a transplant before the age of 21 years.
  This study intends to enrol up to 24 participants with NMAS in the US and UK. Participants in this study will be expected to participate for up to 42 weeks involving the screening period, treatment period and follow up period and will need to come to the study centre 11 times over this period. There are 2 parts to the study. In part 1, participants will be assigned to either an Exaluren Study Arm or Placebo Study Arm, where they will receive a daily administration of exaluren or placebo for 16 weeks. They will then continue to Part 2 of the treatment period in which they will be administered with exaluren for 16 weeks, no matter which treatment they received on Part 1. Participants will have procedures such as, blood tests, ECGs, vital sign measurements, urinalysis, audiometric assessments and a kidney biopsies. The participants will be monitored closely, as the treatment may have side effects that are not yet known.

• REC name

  East of England - Cambridge South Research Ethics Committee

• REC reference

  25/EE/0239

• Date of REC Opinion

  12 Jan 2026

• REC opinion

  Further Information Favourable Opinion