PDE6B


Also found in: Medical.
AcronymDefinition
PDE6BPhosphodiesterase 6B
References in periodicals archive ?
Worldwide prevalence of arRP-associated mutations is reported as; USH2A (12%) ABCA4 (8%), PDE6B (7%), CNGB1 (6%), and PDE6A(5%).
The company, which specialises in gene therapy for the treatment of rare, inherited retinal diseases, said that the main objective will be to establish the safety and efficacy of a unilateral subretinal injection of the product in patients with a retinitis pigmentosa caused by biallelic mutations in the PDE6B gene, which can lead to a defective expression of the PDE6B protein (PDE6beta).
The trial will be structured as a monocentric, open-label, dose-escalation, Phase I/II study and will investigate the compound's impact on 12 patients aged 18 years or older, who are suffering from a retinitis pigmentosa caused by mutations in the PDE6B gene, with no other syndromic manifestations.