Innovating Works

CombGeneTher

Financiado
Gene-Independent Combination Therapy for Rod-Cone Dystrophy
Rod-cone dystrophies are inherited retinal diseases whose clinical course begin with the degeneration of rod photoreceptors and evolve with the progressive loss of cones that, in turn, leads to complete blindness. These diseases a... Rod-cone dystrophies are inherited retinal diseases whose clinical course begin with the degeneration of rod photoreceptors and evolve with the progressive loss of cones that, in turn, leads to complete blindness. These diseases affect 1:2500 individuals worldwide with many underlying gene defects. Although gene replacement therapy has been very successful in treating inherited retinal degenerations in the clinic, with one FDA approved product on the market and over 30 clinical trials, it is costly and time consuming to develop a gene replacement therapy for each mutation. Moreover, gene replacement can only be helpful if the underlying mutation is known and recessive. Despite the genetic heterogeneity of these diseases as well as their inherent complexity, all rod-cone dystrophies converge on a common phenotype of rod cell loss, followed by cone cell degeneration first in the periphery and then in the fovea, leading to complete blindness. A gene therapy approach aiming to counteract the symptoms of rod-cone dystrophy rather than the individual genetic causes has the potential to be helpful in the highest number of affected patients. In this action we propose to develop a combination gene therapy to restore light sensitivity in mouse models of rod-cone dystrophies. AAV-mediated expression of optogenetic channels in cone photoreceptors will restore light sensitivity and maintain downstream retinal circuitry processing. The optogenetic therapy will be combined with the AAV-mediated delivery of rod derived cone viability factor (RdCVF), a factor normally secreted by rods to promote cone survival, lost in rod-cone dystrophies; RdCVF expression in combination with optogenetic channel expression will promote survival of newly lightsensitive cones. Furthermore, this action proposes to deliver optogenetic channels and RdCVF to human retinal organoids, showing expression and photoreceptor activation in human tissue in vitro. ver más
31/08/2025
SORBONNE UNIVERSIT...
212K€
Perfil tecnológico estimado
Duración del proyecto: 35 meses Fecha Inicio: 2022-09-01
Fecha Fin: 2025-08-31

Línea de financiación: concedida

El organismo HORIZON EUROPE notifico la concesión del proyecto el día 2022-09-01
Línea de financiación objetivo El proyecto se financió a través de la siguiente ayuda:
HORIZON-MSCA-2021-PF-01-01: MSCA Postdoctoral Fellowships 2021
Cerrada hace 3 años
Presupuesto El presupuesto total del proyecto asciende a 212K€
Líder del proyecto
SORBONNE UNIVERSITE No se ha especificado una descripción o un objeto social para esta compañía.
Perfil tecnológico TRL 4-5