New Medicines

Achromatopsia due to mutations in the CNGA 3 gene


New molecular entity

Development and Regulatory status

Phase II Clinical Trials
Phase II Clinical Trials
May 20Filings planned for 2023 at the latest [4].
May 20MeiraGTx has a worldwide collaboration and license agreement with Janssen Pharmaceutical [3].
May 20Analysts predict global launch in 2024, with 20% chance of success [3].
May 20Has orphan drug status in EU & US, plus rare pediatric disease status in US for treatment of patients with achromatopsia (colour vision defects) due to mutations in the CNGA3 gene [3].


Gene therapy designed to restore cone function. It is designed with a synthetic promoter associated with strong gene expression to account for the larger amount of protein needed to restore cone function in patients with CNGA3 mutation
This condition causes complete loss of cone function, while rod function is normal throughout the course of disease. Its prevalence is estimated to be about 1 per 30,000. Since cones are concentrated at the fovea then the macula and fovea are disproportionately affected [1].
Achromatopsia due to mutations in the CNGA 3 gene

Trial or other data

Jun 20PI/II trial (NCT03758404) is recruiting. Primary outcome is safety; secondary outcomes include visual function, retinal function and quality of life. Timescales for collection of data unchanged [5].
Mar 20PI/II trial (NCT03758404) is recruiting [2].
Jul 19PI/II trial to evaluate the safety and the effect of AAV-CNGA3 retinal gene therapy on visual function, retinal function and quality of life in children aged three to 15 years with achromatopsia owing to defects in CNGA 3 starts (MGT012; NCT03758404). The open-label trial intends to enrol approximately 18 patients in the UK (Moorfields) and US. The trial is due to complete Jan 22 [2].