Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional
Official Title: An Open Label, Multi-centre, Phase I/II Dose Escalation Trial of a Recombinant Adeno-associated Virus Vector (AAV2/8-hCARp.hCNGB3) for Gene Therapy of Adults and Children With Achromatopsia Owing to D
Brief Summary:
Achromatopsia is a recessively inherited condition characterised by a lack of cone photoreceptor function resulting in impairment of colour vision and visual acuity, central scotoma often with eccentric fixation, disabling hypersensitivity to light (photophobia) and involuntary eye movements (pendular nystagmus).
Children with CNGB3-related achromatopsia have profound sight impairment from birth or early infancy. The condition is currently untreatable, but there is a real possibility that a gene therapy could offer a significant benefit in terms of improved sight and quality of life (QOL), based on our own and others experience of ocular gene therapy trials )and pre-clinical data demonstrating improved outcome in CNGB3- related achromatopsia. Possible benefits of improved cone-photoreceptor function include improved visual acuity; improved colour perception; and relief from disabling photophobia. Although younger individuals may benefit most from gene supplementation therapy by virtue of their greater visual plasticity, it is anticipated that the intervention may offer benefit across a range of ages and the aim is to define this range. For this reason, participants of various ages will be included; children will be included only after an acceptable safety profile has been established in adults.