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Fighting blindness of Usher syndrome: diagnosis, pathogenesis and retinal treatment (TreatRetUsher)

Objective

Usher syndrome (USH) is the most frequent hereditary cause of deafness associated to blindness. It is a rare disease, affecting 1 in every 10.000 individuals, with an autosomal recessive monogenic inheritance. Deafness is congenital while the retinitis pigmentosa is not detected before the age of 8 to 10. These patients suffer from a dreadful disability as their two major senses are impaired. Important scientific advances have been achieved, mostly by auditory scientists: 9 causative genes have been identified. The hearing impairment pathogenesis has been elucidated, ie, an early developmental defect of auditory sensory cells. Our project gathering scientists and physicians from both the auditory and visual fields aims : -to halt the no longer acceptable underdiagnosis of this syndrome. Because, children affected with Usher type I, the most severe form, are usually diagnosed as severely or profoundly deaf only, parents may choose visual/sign language whereas these children would have taken full advantage from an early cochlear implantation. -To make these patients benefit from gene replacement therapy in the retina that recently showed tremendous results. We propose : 1/ To develop new clinical and molecular tools and guidelines for an early diagnosis thereafter broadly disseminated. 2/To clarify the retinal pathogenesis of Usher syndrome (type I and II) by an unpreceding effort to generate animal and tissue models that will be characterised in depth by multidisciplinary investigations including innovative methods. Mouse, frog, pig in vivo models and cultured retinal explants will be used, as well as human retinal cultures. This will also provide the necessary tests to evaluate phenotype rescuing. 3/To prevent and treat the retinal defect by associated adenovirus (AAV) gene therapy. This includes optimisation of the gene transfer and selection of patients to lead to a clinical trial carried out for one or more Usher genes (USH1B, 1C, 1G & USH2D)

Call for proposal

FP7-HEALTH-2009-single-stage
See other projects for this call

Coordinator

UNIVERSITE PIERRE ET MARIE CURIE - PARIS 6
Address
Place Jussieu 4
75252 Paris
France
Activity type
Higher or Secondary Education Establishments
EU contribution
€ 1 599 999
Administrative Contact
Christine Petit (Prof.)

Participants (12)

INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
France
EU contribution
€ 459 999
Address
Rue De Tolbiac 101
75654 Paris
Activity type
Research Organisations
Administrative Contact
Mihaja Auguste (Ms.)
EBERHARD KARLS UNIVERSITAET TUEBINGEN
Germany
EU contribution
€ 829 480
Address
Geschwister-scholl-platz
72074 Tuebingen
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Eberhart Zrenner (Prof.)
MEDICAL RESEARCH COUNCIL
United Kingdom
EU contribution
€ 502 000
Address
North Star Avenue Polaris House
SN2 1FL Swindon
Activity type
Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments)
Administrative Contact
Hilary Gates (Dr.)
FONDAZIONE TELETHON
Italy
EU contribution
€ 502 000
Address
Via Varese 16/B
00185 Roma
Activity type
Research Organisations
Administrative Contact
Irene Mearelli (Ms.)
AMSTERDAM MOLECULAR THERAPEUTICS (AMT) NV
Netherlands
EU contribution
€ 502 000
Address
Meibergdreef 61
1105BA Amsterdam
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Administrative Contact
Piers Morgan (Mr.)
Novartis Forschungsstiftung
Switzerland
Address
Maulbeerstrasse 66
4058 Basel
Activity type
Research Organisations
Administrative Contact
Botond Roska (Dr.)
FAUN - STIFTUNG NURNBERG
Germany
EU contribution
€ 20 000
Address
Hans Sachs Platz 4
90403 Nurnberg
Activity type
Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments)
Administrative Contact
Steffen Suchert (Mr.)
THE TRUSTEES OF THE UNIVERSITY OF PENNSYLVANIA CORP
United States
EU contribution
€ 341 826,75
Address
3451 Walnut Street Room P 221
19104 Philadelphia
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Heather Lewis (Ms.)
FONDATION DE COOPERATION SCIENTIFIQUE VOIR ET ENTENDRE
France
EU contribution
€ 408 000
Address
17 Rue Moreau
75012 Paris
Activity type
Research Organisations
Administrative Contact
Jose Sahel (Prof.)
JOHANNES GUTENBERG-UNIVERSITAT MAINZ
Germany
EU contribution
€ 197 000
Address
Saarstrasse 21
55122 Mainz
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Julia Dore (Ms.)
MASSACHUSETTS EYE AND EAR INFIRMARY
United States
EU contribution
€ 135 695,25
Address
Charles Street Suite 421 243
02114 Boston
Activity type
Research Organisations
Administrative Contact
Tracey Harik (Ms.)
FRIEDRICH MIESCHER INSTITUTE FOR BIOMEDICAL RESEARCH FONDATION
Switzerland
EU contribution
€ 502 000
Address
Maulbeerstrasse 66
4058 Basel
Activity type
Research Organisations
Administrative Contact
Botond Roska (Dr.)