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BIND SIGNED

Brain Involvement iN Dystrophinopathies

Total Cost €

0

EC-Contrib. €

0

Partnership

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Project "BIND" data sheet

The following table provides information about the project.

Coordinator
UNIVERSITY COLLEGE LONDON 

Organization address
address: GOWER STREET
city: LONDON
postcode: WC1E 6BT
website: n.a.

contact info
title: n.a.
name: n.a.
surname: n.a.
function: n.a.
email: n.a.
telephone: n.a.
fax: n.a.

 Coordinator Country United Kingdom [UK]
 Total cost 6˙716˙325 €
 EC max contribution 6˙666˙325 € (99%)
 Programme 1. H2020-EU.3.1.1. (Understanding health, wellbeing and disease)
 Code Call H2020-SC1-2019-Two-Stage-RTD
 Funding Scheme RIA
 Starting year 2020
 Duration (year-month-day) from 2020-01-01   to  2023-12-31

 Partnership

Take a look of project's partnership.

# participants  country  role  EC contrib. [€] 
1    UNIVERSITY COLLEGE LONDON UK (LONDON) coordinator 1˙733˙428.00
2    ACADEMISCH ZIEKENHUIS LEIDEN NL (LEIDEN) participant 1˙014˙553.00
3    CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE CNRS FR (PARIS) participant 498˙179.00
4    UNIVERSITE DE VERSAILLES SAINT-QUENTIN-EN-YVELINES. FR (VERSAILLES) participant 472˙675.00
5    UNIVERSITY OF NEWCASTLE UPON TYNE UK (NEWCASTLE UPON TYNE) participant 470˙980.00
6    CONSORZIO FUTURO IN RICERCA IT (FERRARA) participant 334˙000.00
7    STICHTING KEMPENHAEGHE NL (HEEZE) participant 304˙437.00
8    REGION HOVEDSTADEN DK (HILLEROD) participant 285˙207.00
9    TRANSPHARMATION IRELAND LTD IE (DUBLIN) participant 272˙445.00
10    THE PROVOST, FELLOWS, FOUNDATION SCHOLARS & THE OTHER MEMBERS OF BOARD OF THE COLLEGE OF THE HOLY & UNDIVIDED TRINITY OF QUEEN ELIZABETH NEAR DUBLIN IE (DUBLIN) participant 253˙508.00
11    UNIVERSITA CATTOLICA DEL SACRO CUORE IT (MILANO) participant 183˙500.00
12    UNIVERSIDAD COMPLUTENSE DE MADRID ES (MADRID) participant 179˙125.00
13    IMAGINE INSTITUT DES MALADIES GENETIQUES NECKER ENFANTS MALADES FONDATION FR (PARIS 15) participant 166˙250.00
14    STICHTING UNITED PARENT PROJECTS MUSCULAR DYSTROPHY NL (VEENENDAAL) participant 165˙687.00
15    STICHTING DUCHENNE DATA FOUNDATION NL (BERGEN OP ZOOM) participant 137˙687.00
16    SYNTHENA AG CH (BERN) participant 100˙000.00
17    PEPGEN LIMITED UK (OXFORD) participant 53˙563.00
18    GREAT ORMOND STREET HOSPITAL FOR CHILDREN NHS FOUNDATION TRUST UK (LONDON) participant 41˙096.00
19    NATIONAL CENTER OF NEUROLOGY AND PSYCHIATRY JP (KODAIRA TOKYO) participant 0.00

Map

 Project 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.

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