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Brain Involvement iN Dystrophinopathies

Project information

Grant agreement ID: 847826

Status

Ongoing project

  • Start date

    1 January 2020

  • End date

    31 December 2023

Funded under:

H2020-EU.3.1.1.

  • Overall budget:

    € 6 716 325

  • EU contribution

    € 6 666 325

Coordinated by:

UNIVERSITY COLLEGE LONDON

United Kingdom

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.

Programme(s)

H2020-EU.3.1.1. - Understanding health, wellbeing and disease

Topic(s)

SC1-BHC-01-2019 - Understanding causative mechanisms in co- and multimorbidities combining mental and non-mental disorders

Call for proposal

H2020-SC1-2019-Two-Stage-RTD

See other projects for this call

Funding Scheme

RIA - Research and Innovation action

Coordinator

UNIVERSITY COLLEGE LONDON

Address

Gower Street
Wc1e 6bt London

United Kingdom

Activity type

Higher or Secondary Education Establishments

EU Contribution

€ 1 733 428

Contact the organisation

Participants (18)

CONSORZIO FUTURO IN RICERCA

Italy

EU Contribution

€ 334 000

ACADEMISCH ZIEKENHUIS LEIDEN

Netherlands

EU Contribution

€ 1 014 553,75

REGION HOVEDSTADEN

Denmark

EU Contribution

€ 285 207,10

UNIVERSITY OF NEWCASTLE UPON TYNE

United Kingdom

EU Contribution

€ 470 980

NATIONAL CENTER OF NEUROLOGY AND PSYCHIATRY

Japan

CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE CNRS

France

EU Contribution

€ 498 179,65

UNIVERSITE DE VERSAILLES SAINT-QUENTIN-EN-YVELINES.

France

EU Contribution

€ 472 675

STICHTING KEMPENHAEGHE

Netherlands

EU Contribution

€ 304 437,50

UNIVERSITA CATTOLICA DEL SACRO CUORE

Italy

EU Contribution

€ 183 500

UNIVERSIDAD COMPLUTENSE DE MADRID

Spain

EU Contribution

€ 179 125

IMAGINE INSTITUT DES MALADIES GENETIQUES NECKER ENFANTS MALADES FONDATION

France

EU Contribution

€ 166 250

TRANSPHARMATION IRELAND LTD

Ireland

EU Contribution

€ 272 445

GREAT ORMOND STREET HOSPITAL FOR CHILDREN NHS FOUNDATION TRUST

United Kingdom

EU Contribution

€ 41 096,50

STICHTING UNITED PARENT PROJECTS MUSCULAR DYSTROPHY

Netherlands

EU Contribution

€ 165 687,50

SYNTHENA AG

Switzerland

EU Contribution

€ 100 000

PEPGEN LIMITED

United Kingdom

EU Contribution

€ 53 563,75

STICHTING DUCHENNE DATA FOUNDATION

Netherlands

EU Contribution

€ 137 687,50

THE PROVOST, FELLOWS, FOUNDATION SCHOLARS & THE OTHER MEMBERS OF BOARD OF THE COLLEGE OF THE HOLY & UNDIVIDED TRINITY OF QUEEN ELIZABETH NEAR DUBLIN

Ireland

EU Contribution

€ 253 508,75

Project information

Grant agreement ID: 847826

Status

Ongoing project

  • Start date

    1 January 2020

  • End date

    31 December 2023

Funded under:

H2020-EU.3.1.1.

  • Overall budget:

    € 6 716 325

  • EU contribution

    € 6 666 325

Coordinated by:

UNIVERSITY COLLEGE LONDON

United Kingdom

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Last update: 11 December 2019

Record number: 226447