New Medicines

Achromatopsia due to mutations in the CNGB 3 gene


New molecular entity

Development and Regulatory status

Phase II Clinical Trials
Phase II Clinical Trials
Nov 21Not listed in Janssen planned filings, so do not expect data to be available for filing before 2024 [11].
Nov 21MeiraGTx and Janssen plan to start a later stage clinical study for AAV-CNGB3 for the treatment of achromatopsia (ACHM) in 2022 [10].
Apr 20Filings planned for 2023 at the latest [7].
Mar 19MeiraGTx has an ongoing natural history study in ACHM including over 90 patients to allow collection of structural and functional data for up to five years on prospectively defined endpoints. MeiraGTx intends to present this natural history data to regulatory agencies for discussion of the pivotal trial design and path to regulatory approval [4].
Jan 19MeiraGTx entered into a worldwide collaboration and license agreement with Janssen Pharmaceutical [6]
Aug 18Granted fast track status in US [3].
Mar 18A002 receives PRIME status for treatment of patients with achromatopsia due to mutations in the CNGB 3 gene, from the EMA. The PRIME application was supported by preclinical in vivo data and early clinical safety data from an ongoing PI/II dose escalation trial [3].
Feb 18US FDA grants a rare paediatric disease designation to A002 for treatment of patients with achromatopsia due to mutations in the CNGB 3 gene [3]
Mar 16Granted orphan drug status in US [3].
Nov 15Granted orphan drug status in EU [3].


An adeno-associated virus (AAV) gene therapy, designed to rescue retinal cone cell function and increase survival by delivering a codon-optimised CNGB 3 cDNA under the control of the cone arrestin (CAR) promoter to photoreceptor cells
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 CNGB 3 gene
Subretinal injection

Trial or other data

Mar 21PI/II study (NCT03278873) continues recruitment including at Moorfields Hospital in London [9].
Nov 20PI/II study (NCT03278873) is due to complete collection of primary outcome safety data in Jul 24, and efficacy date (visual function, retinal function and quality of life) in Aug 24 [8].
Dec 19PI/II long-term follow-up study (NCT03278873) will recruit patients who participated in one of the clinical trials: AAV - CNGB3 retinal gene therapy for patients with achromatopsia, or AAV - CNGA3 retinal gene therapy for patients with achromatopsia. Follow-up is for 5 years [5].
Dec 19NCT03001310 complete [6]
Dec 19UK trial sites: NCT03001310 - Moorfields
Feb 19PI/II study (NCT03001310) is due to complete collection of primary outcome data [2].
Aug 18MeiraGTx completes the dose escalation phase of the PI/II study (NCT03001310), and has treated 11 adult patients in the three dose escalation cohorts. In the dose-extension phase of the study, 3 paediatric patients were treated [3].
Dec 17PI/II trial (NCT03001310) is recruiting [2].
Jun 17PI/II trial starts (MGT007; NCT03278873). This long-term, follow-up open-label trial is enrolling 18 patients in the UK [2].
Jan 16PI/II trial to assess the safety and efficacy of A002 to patients with CNGB 3-related achromatopsia starts (MGT006; NCT03001310). The dose-escalation, open-label, single-group trial is enrolling approximately 27 patients, aged ≥3 years, in the UK and the US [2].