Objective Usher syndrome (USH) is the most common combination of deafness and blindness due to retinitis pigmentosa. USHIB caused by mutations in the large MYO7A gene, is among the most severe and frequent forms of USH. While deafness can be improved with cochlear implants, blindness remains untreatable. Retinal gene therapy with AAV vectors is both safe and effective in humans, however it is limited by AAV cargo capacity which would not allow transfer of the large MYO7A expression cassette. UshTher objective is to test the safety and efficacy of a highly innovative gene therapy approach (dual AAV) in the retina of USHIB patients. The projects builds on data previously obtained by the coordinator that a single combined subretinal administration of dual AAV vectors, each packaging one of the two halves of a MYO7A expression cassette, results in MYO7A reconstitution and therapeutic efficacy in a mouse model of USHIB. This has received the Orphan Drug Designation from the European Medicines Agency. It would be the first time the dual AAV vector approach is tested in humans. Towards this ambitious objective, UshTher has assembled a very competitive consortium with leaders in the fields of retinal gene therapy from bench to bedside including SMEs with expertise in the development of gene therapy products. The planned activities span from manufacturing of clinical –grade dual AAV vectors to non clinical safety, biodistribution and expression studies performed under good laboratory practices up to performing a multicenter, multinational clinical trial which envisages subretinal administrations of dual AAV vectors in twelve USHIB patients. UshTher success will set the basis for a cure for USHIB retinitis pigmentosa, and for testing dual AAV vectors in other rare and more common conditions which require delivery of large genes, thus overcoming one of the major limitations of in vivo gene therapy. Fields of science medical and health sciencesmedical biotechnologygenetic engineeringgene therapymedical and health sciencesbasic medicinepharmacology and pharmacypharmaceutical drugsmedical and health sciencesbasic medicineimmunologymedical and health sciencesclinical medicineophthalmologymedical and health sciencesmedical biotechnologyimplants Programme(s) H2020-EU.3.1. - SOCIETAL CHALLENGES - Health, demographic change and well-being Main Programme H2020-EU.3.1.3. - Treating and managing disease Topic(s) SC1-PM-08-2017 - New therapies for rare diseases Call for proposal H2020-SC1-2016-2017 See other projects for this call Sub call H2020-SC1-2017-Two-Stage-RTD Funding Scheme RIA - Research and Innovation action Coordinator FONDAZIONE TELETHON ETS Net EU contribution € 1 783 642,00 Address Via varese 16/b 00185 Roma Italy See on map Region Centro (IT) Lazio Roma Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 Participants (9) Sort alphabetically Sort by Net EU contribution Expand all Collapse all ASSOCIATION GENETHON France Net EU contribution € 91 068,75 Address Rue de l internationale 1 bis 91002 Evry See on map Region Ile-de-France Ile-de-France Essonne Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 GENOSAFE SAS France Net EU contribution € 527 952,50 Address Rue de l'internationale 1 91000 Evry See on map SME The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed. Yes Region Ile-de-France Ile-de-France Essonne Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSITA DEGLI STUDI DELLA CAMPANIA LUIGI VANVITELLI Italy Net EU contribution € 635 567,33 Address Viale abramo lincoln 5 81100 Caserta See on map Region Sud Campania Caserta Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 Third-party Legal entity other than a subcontractor which is affiliated or legally linked to a participant. The entity carries out work under the conditions laid down in the Grant Agreement, supplies goods or provides services for the action, but did not sign the Grant Agreement. A third party abides by the rules applicable to its related participant under the Grant Agreement with regard to eligibility of costs and control of expenditure. AZIENDA OSPEDALIERA UNIVERSITARIA UNIVERSITA DEGLI STUDI DELLA CAMPANIA LUIGI VANVITELLI Italy Net EU contribution € 65 000,00 Address Via santa maria di costantinopoli 104 80138 Napoli See on map Region Sud Campania Napoli Activity type Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments) Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 INSTITUTO INVESTIGACION SANITARIA FUNDACION JIMENEZ DIAZ Spain Net EU contribution € 136 645,46 Address Avenida de los reyes catolicos 2 28040 Madrid See on map Region Comunidad de Madrid Comunidad de Madrid Madrid Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 STICHTING OOGZIEKENHUIS ROTTERDAM Participation ended Netherlands Net EU contribution € 0,00 Address Schiedamse vest 180 3011 BH Rotterdam See on map Region West-Nederland Zuid-Holland Groot-Rijnmond Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 REITHERA SRL Italy Net EU contribution € 2 566 669,18 Address Via di castel romano 100 00128 Roma See on map SME The organization defined itself as SME (small and medium-sized enterprise) at the time the Grant Agreement was signed. Yes Region Centro (IT) Lazio Roma Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 UNIVERSITA' DEGLI STUDI DI MILANO-BICOCCA Italy Net EU contribution € 54 525,00 Address Piazza dell'ateneo nuovo 1 20126 Milano See on map Region Nord-Ovest Lombardia Milano Activity type Higher or Secondary Education Establishments Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00 HET ROTTERDAMS OOGHEELKUNDIG INSTITUUT BV Netherlands Net EU contribution € 137 445,53 Address Schiedamse vest 160 d 3011 BH Rotterdam See on map Region West-Nederland Zuid-Holland Groot-Rijnmond Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Links Contact the organisation Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Other funding € 0,00
