Invitation: Clinical Trial for Cystinosis Nonsense Mutation

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NoMuRiC (Nonsense Mutation Readthrough in Cystinosis)

A Phase II Clinical Trial of ELX-02 for Treatment of Cystinosis

(McGill University Health Centre)


Cystinosis patients are invited to join an upcoming study. We are particularly interested in a specific type of CTNS mutation (called a “nonsense mutation”) which tricks the cell into stopping production of cystinosin protein before it is finished. Our study will test a new drug candidate, ELX-02 (a novel eukaryotic ribosomal selective glycoside), to determine whether it causes the cell to disregard nonsense mutations and thereby offers the potential to restore cystinosin protein production in patients with this type of mutation.

Our study will determine whether there is a dose of ELX-02 that can lower white blood cell cystine, without evidence of toxicity for the kidney or ear (problems that can occur with gentamycin, an aminoglycoside). Medically stable cystinosis patients with confirmed CTNS nonsense mutations who are > 18 years (group1) or >12 years (group 2) are eligible. Participants will be housed in Montreal, Canada for 6 weeks for the trial to be conducted at the Centre for Innovative Medicine at the McGill University Health Centre. During the trial, blood and urine samples will be obtained and clinical tests of hearing and balance will be performed to monitor safety. It is expected that ELX-02 will be administered by daily injections (similar to the administration of insulin or growth hormone).

You will not receive any personal benefits as a result of your participation in this research study. We are hopeful that the results will help us better understand cystinosis for the benefit of patients with CTNS nonsense mutations.

If you would like more information about the trial, please contact us by phone: (514) 412-4400 ext. 22953 or by email: 

UPDATE: Study enrollment and timing information are now available via the website.

Principal Investigator:
Paul Goodyer, M.D.
Professor of Pediatrics at McGill University
Department of Pediatric Nephrology, Montreal Children’s Hospital

Study Coordinator:
Murielle M. Akpa, PhD