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Clinical trial of gene therapy with dual AAV vectors for retinitis pigmentosa in patients with Usher syndrome type IB

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.

Call for proposal

H2020-SC1-2016-2017

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Sub call

H2020-SC1-2017-Two-Stage-RTD

Coordinator

FONDAZIONE TELETHON ETS
Net EU contribution
€ 1 783 642,00
Address
Via Varese 16/b
00185 Roma
Italy

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Region
Centro (IT) Lazio Roma
Activity type
Research Organisations
Non-EU contribution
€ 0,00

Participants (9)

ASSOCIATION GENETHON
France
Net EU contribution
€ 91 068,75
Address
Rue De L Internationale 1 Bis
91002 Evry

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Region
Ile-de-France Ile-de-France Essonne
Activity type
Research Organisations
Non-EU contribution
€ 0,00
GENOSAFE SAS
France
Net EU contribution
€ 527 952,50
Address
Rue De L'internationale 1
91000 Evry

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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)
Non-EU contribution
€ 0,00
UNIVERSITA DEGLI STUDI DELLA CAMPANIA LUIGI VANVITELLI
Italy
Net EU contribution
€ 635 567,33
Address
Viale Abramo Lincoln 5
81100 Caserta

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Region
Sud Campania Caserta
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 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

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Region
Sud Campania Napoli
Activity type
Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments)
Non-EU contribution
€ 0,00
INSTITUTO INVESTIGACION SANITARIA FUNDACION JIMENEZ DIAZ
Spain
Net EU contribution
€ 136 645,46
Address
Avenida De Los Reyes Catolicos 2
28040 Madrid

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Region
Comunidad de Madrid Comunidad de Madrid Madrid
Activity type
Research Organisations
Non-EU contribution
€ 0,00
STICHTING OOGZIEKENHUIS ROTTERDAM

Participation ended

Netherlands
Net EU contribution
€ 0,00
Address
Schiedamse Vest 180
3011 BH Rotterdam

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Region
West-Nederland Zuid-Holland Groot-Rijnmond
Activity type
Research Organisations
Non-EU contribution
€ 0,00
REITHERA SRL
Italy
Net EU contribution
€ 2 566 669,18
Address
Via Di Castel Romano 100
00128 Roma

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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)
Non-EU contribution
€ 0,00
UNIVERSITA' DEGLI STUDI DI MILANO-BICOCCA
Italy
Net EU contribution
€ 54 525,00
Address
Piazza Dell'ateneo Nuovo 1
20126 Milano

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Region
Nord-Ovest Lombardia Milano
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
HET ROTTERDAMS OOGHEELKUNDIG INSTITUUT BV
Netherlands
Net EU contribution
€ 137 445,53
Address
Schiedamse Vest 160 D
3011 BH Rotterdam

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Region
West-Nederland Zuid-Holland Groot-Rijnmond
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Non-EU contribution
€ 0,00