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GENE THERAPY FOR INHERITED SEVERE PHOTORECEPTOR DISEASES

Objective

The retina represents the visual sensory receptor of the nervous system (CNS). Inherited diseases like Retintitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA), for which no therapies are available, are due to mutations in genes preferentially expressed in the photoreceptor cells of the retina. Vectors derived from the adeno-associated virus (AAV) efficiently transduce the retina of animal models. AAV-mediated gene transfer reverts retinal pigment epithelium (RPE) defects and the safety of this strategy is being tested for the first time in humans by an AAVEYE partner. However, approaches to correct photoreceptor-specific diseases are inefficient. The objective of the AAVEYE consortium is to develop state-of-the art gene transfer to photoreceptors in the retina, and to provide pre-clinical proof-of-concept of gene therapy for severe blinding retinal photoreceptor diseases to be transferred from bench to bedside. AAVEYE, which uniquely combines leading European scientists in the fields of: AAV-mediated gene transfer to the retina, elucidation of the pathogenesis of photoreceptor degeneration and design of molecular diagnostics for inherited retinal diseases, will accomplish this through: 1) development of AAV-based long-term and safe gene transfer to photoreceptors through combinations of endogenous promoters and AAV serotypes. 2) assessment of the impact of AAV-mediated photoreceptor transduction on rescue of visual function in animal models of severe RP and LCA. 3) evaluation of the efficacy of combination of gene replacement with adjuvant molecules on photoreceptor survival. 4) characterization of patients with severe inherited photoreceptor diseases to move from bench to bedside the gene therapies strategies tested. The results of this proposal will provide the knowledge and validation to further develop novel AAV-mediated therapeutic approaches with a broad potential application in the retina and central nervous system.

Field of science

  • /natural sciences/biological sciences/genetics and heredity/mutation
  • /medical and health sciences/medical biotechnology/genetic engineering/gene therapy
  • /medical and health sciences/clinical medicine/ophthalmology

Call for proposal

FP7-HEALTH-2007-B
See other projects for this call

Funding Scheme

CP-FP - Small or medium-scale focused research project

Coordinator

FONDAZIONE TELETHON
Address
Via Varese 16/B
00185 Roma
Italy
Activity type
Research Organisations
EU contribution
€ 1 058 000
Administrative Contact
Irene Mearelli (Ms.)

Participants (3)

University College London
United Kingdom
EU contribution
€ 856 000
Address
Gower Street
WC1E 6BT London
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Kent Lee (Mr.)
FONDATION ASILE DES AVEUGLES
Switzerland
EU contribution
€ 774 000
Address
Avenue De France 15
1004 Lausanne
Activity type
Research Organisations
Administrative Contact
Pierre Sterckx (Mr.)
ASPER BIOTECH AS
Estonia
EU contribution
€ 283 000
Address
Vaksali 17A
50410 Tartu
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Katrin Sak (Dr.)