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Brain Involvement iN Dystrophinopathies

Objective

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy in childhood, with more than 25,000 patients in Europe. It is due to mutations in the DMD gene that preclude the production of the protein dystrophin. In addition to the progressive muscle weakness, 50% of affected individuals have debilitating central nervous system (CNS) co-morbidities, including intellectual disability, neurodevelopmental problems encompassing autism, Attention Deficit Hyperactivity Disorder and Obsessive Compulsive Disorder. These co-morbidities are due to the deficiency of multiple dystrophin isoforms in brain whose expression is differentially affected by the site of the DMD mutation. They represent a major obstacle for patients to live a fully independent life. Current therapies do not address these co-morbidities. The postnatal restoration of one dystrophin isoform using genetic therapies in the DMD mouse model improves the neurobehavioral phenotype. This raises the exciting possibility that some of the CNS co-morbidities could improve with genetic therapies in patients. We need to address several knowledge gaps before considering clinical applications of these therapies: i. dystrophin isoforms localisation in the CNS; ii. which of the neurobehavioural features of the dystrophic mice improve after dystrophin restoration, and circuitries involved; iii. deep phenotype patients to define robust outcome measures. This project developed in partnership with advocacy groups, meets gender criteria and offers for the first time insight into how dystrophins’ affect CNS function, and on the reversibility of the DMD CNS co-morbidities, providing essential information to the field of neurodevelopmental disorders, and for other syndromes arising from dystrophin associated proteins. Our efforts to develop novel therapies that can cross the blood brain barrier could be transformative for the field of neurodegeneration and neurodevelopmental disorders.

Call for proposal

H2020-SC1-BHC-2018-2020

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Sub call

H2020-SC1-2019-Two-Stage-RTD

Coordinator

UNIVERSITY COLLEGE LONDON
Net EU contribution
€ 1 726 494,26
Address
Gower Street
WC1E 6BT London
United Kingdom

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Region
London Inner London — West Camden and City of London
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00

Participants (20)

CONSORZIO FUTURO IN RICERCA
Italy
Net EU contribution
€ 272 664,00
Address
Via G Saragat 1 Blocco B
44122 Ferrara

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Region
Nord-Est Emilia-Romagna Ferrara
Activity type
Research Organisations
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.

UNIVERSITA DEGLI STUDI DI FERRARA
Italy
Net EU contribution
€ 60 000,00
Address
Via Ariosto 35
44121 Ferrara

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Region
Nord-Est Emilia-Romagna Ferrara
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
ACADEMISCH ZIEKENHUIS LEIDEN
Netherlands
Net EU contribution
€ 1 020 495,54
Address
Albinusdreef 2
2333 ZA Leiden

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Region
West-Nederland Zuid-Holland Agglomeratie Leiden en Bollenstreek
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
REGION HOVEDSTADEN
Denmark
Net EU contribution
€ 284 066,28
Address
Kongens Vaenge 2
3400 Hillerod

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Region
Danmark Hovedstaden Nordsjælland
Activity type
Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments)
Non-EU contribution
€ 0,00
UNIVERSITY OF NEWCASTLE UPON TYNE
United Kingdom
Net EU contribution
€ 469 096,08
Address
Kings Gate
NE1 7RU Newcastle Upon Tyne

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Region
North East (England) Northumberland and Tyne and Wear Tyneside
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
NATIONAL CENTER OF NEUROLOGY AND PSYCHIATRY
Japan
Net EU contribution
€ 0,00
Non-EU contribution
€ 50 000,00
CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE CNRS
France
Net EU contribution
€ 498 179,65
Address
Rue Michel Ange 3
75794 Paris

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Region
Ile-de-France Ile-de-France Paris
Activity type
Research Organisations
Non-EU contribution
€ 0,00
UNIVERSITE DE VERSAILLES SAINT-QUENTIN-EN-YVELINES.
France
Net EU contribution
€ 443 951,24
Address
Avenue De Paris 55
78035 Versailles

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Region
Ile-de-France Ile-de-France Yvelines
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.

INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE
France
Net EU contribution
€ 56 250,00
Address
Rue De Tolbiac 101
75654 Paris

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Region
Ile-de-France Ile-de-France Paris
Activity type
Research Organisations
Non-EU contribution
€ 0,00
STICHTING KEMPENHAEGHE
Netherlands
Net EU contribution
€ 303 219,75
Address
Sterkselseweg 65
5590 AB Heeze

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Region
Noord-Brabant Zuidoost-Noord-Brabant
Activity type
Other
Non-EU contribution
€ 0,00
UNIVERSITA CATTOLICA DEL SACRO CUORE
Italy
Net EU contribution
€ 182 766,00
Address
Largo Gemelli 1
20123 Milano

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Region
Nord-Ovest Lombardia Milano
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
UNIVERSIDAD COMPLUTENSE DE MADRID
Spain
Net EU contribution
€ 178 408,50
Address
Avenida De Seneca 2
28040 Madrid

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Region
Comunidad de Madrid Comunidad de Madrid Madrid
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00
IMAGINE INSTITUT DES MALADIES GENETIQUES NECKER ENFANTS MALADES FONDATION
France
Net EU contribution
€ 165 585,00
Address
24 Bd Du Montparnasse
75015 Paris 15

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Region
Ile-de-France Ile-de-France Paris
Activity type
Research Organisations
Non-EU contribution
€ 0,00
TRANSPHARMATION IRELAND LTD
Ireland
Net EU contribution
€ 272 445,00
Address
3rd Floor Ulysses House Foley Street
D01 W2T2 Dublin

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Region
Ireland Eastern and Midland Dublin
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Non-EU contribution
€ 0,00
GREAT ORMOND STREET HOSPITAL FOR CHILDREN NHS FOUNDATION TRUST
United Kingdom
Net EU contribution
€ 41 096,50
Address
Great Ormond Street
WC1N 3JH London

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Region
London Inner London — West Camden and City of London
Activity type
Public bodies (excluding Research Organisations and Secondary or Higher Education Establishments)
Non-EU contribution
€ 0,00
STICHTING UNITED PARENT PROJECTS MUSCULAR DYSTROPHY
Netherlands
Net EU contribution
€ 165 687,50
Address
Koninginnelaan 69
3905 GG Veenendaal

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Region
West-Nederland Utrecht Utrecht
Activity type
Other
Non-EU contribution
€ 0,00
SYNTHENA AG
Switzerland
Net EU contribution
€ 100 000,00
Address
Freiestrasse 3
3012 Bern

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Region
Schweiz/Suisse/Svizzera Espace Mittelland Bern / Berne
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Non-EU contribution
€ 0,00
PEPGEN LIMITED

Participation ended

United Kingdom
Net EU contribution
€ 16 037,51
Address
Bioescalitor Innovation Building O
OX37FZ Oxford

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Region
South East (England) Berkshire, Buckinghamshire and Oxfordshire Oxfordshire
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
Non-EU contribution
€ 0,00
STICHTING DUCHENNE DATA FOUNDATION
Netherlands
Net EU contribution
€ 156 373,44
Address
Warmoesdreef 10
4614 HC Bergen Op Zoom

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Region
Noord-Brabant West-Noord-Brabant
Activity type
Other
Non-EU contribution
€ 0,00
THE PROVOST, FELLOWS, FOUNDATION SCHOLARS & THE OTHER MEMBERS OF BOARD, OF THE COLLEGE OF THE HOLY & UNDIVIDED TRINITY OF QUEEN ELIZABETH NEAR DUBLIN
Ireland
Net EU contribution
€ 253 508,75
Address
College Green Trinity College
D02 CX56 Dublin 2

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Region
Ireland Eastern and Midland Dublin
Activity type
Higher or Secondary Education Establishments
Non-EU contribution
€ 0,00