Sirius clinical trial – Exon 13 mutation of USH2A

Ultevursen is an investigational RNA therapy which works by skipping exon 13, which houses common mutations in the USH2A gene, and restores functional usherin protein with an aim to stop disease progression. Please follow this link for more information:

• Usher syndrome
• RNA therapy

We are writing to reach any individuals who may have mutations in exon 13 of the USH2A gene as they might be eligible.

If you are not sure what mutation you have, please email your genetic results to us so we can help interpret them.

If you do not have your genetic report but know you’ve had genetic testing, again please email us as we may be able to trace the report.

If you have Usher syndrome or retinitis pigmentosa (RP) but have never had genetic testing, we would also be happy to help but you will need to ask your GP to refer you to Professor Mariya Moosajee, Genetic Eye Disease Clinic at Moorfields Eye Hospital for genetic testing.

Some of the eligibility criteria for the trial are as follows:

• Genetic diagnosis of retinitis pigmentosa or Usher syndrome due to mutation in exon 13 of the USH2A gene
• Best corrected visual acuity ≥30 and ≤68 letters ETDRS (this is roughly 6/12 to 6/60 vision)
• Age 12 or over
• No other significant ocular condition that may impact study participation
• Not participating in another clinical study during the trial

Please contact my research fellow Dr Paulina Ocieczek if you are interested to take part or require any further help or information on email: p.ocieczek@nhs.net.

We look forward to hearing from you.

Best wishes

Mariya
Principal Investigator for the Sirius trial at Moorfields Eye Hospital NHS Foundation Trust, London