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Brain Involvement iN Dystrophinopathies

Deliverables

Mdx intellectual defects

Motor emotional and learning deficits shared or unique to the different mouse models

First study approvals package

First study subject approvals package (prior to enrolment of first study subject). (i) Final version of study protocol as submitted to regulators/ethics committee(s), (ii) Registration number of clinical study in a WHO-or ICMJE- approved registry (with the possibility to post results), (iii) Approvals (ethics committees and national competent authority if applicable) required for invitation/enrolment of first subject in at least one clinical centre.

Communication, Dissemination and Exploitation plan (first release)

First release of the Communication, Dissemination and Exploitation Plan.

First study subject approvals package

First study subject approvals package' (prior to enrolment of first study subject). (i) Final version of study protocol as submitted to regulators/ethics committee(s), (ii) Registration number of clinical study in a WHO-or ICMJE- approved registry (with the possibility to post results), (iii) Approvals (ethics committees and national competent authority if applicable) required for invitation/enrolment of first subject in at least one clinical centre.

Questionnaire definition

Definition of a questionnaire that will be distributed via UPPMD to national advocacy groups and registries

Mdx5cv validation

Validation of the mdx5cv mouse model

Gene and proteomic knowledge map

Knowledge map of gene and proteomic changes associated with comorbidities in other than DMDBMD

Comorbidity ‘supercluster' formation

Formation of brain comorbidity supercluster and clinical trial advisory group on brain comorbidities

Brain transcriptional changes

Characterization of transcriptional changes in different brain regions of mouse models lacking different dystrophin isoforms

WP5 - Midterm recruitment report

Midterm recruitment report Report for each clinical study to be scheduled for the point when 50 of the study population is expected to have been recruited

Dystrophin isoform localisation:humans

Characterisation of dystrophin isoform localisation in different brain regions from normal human brains

Protocol optimisation

Optimization of the neurocognitive and neurobehavioural protocols to be used in the study

Communication, Dissemination and Exploitation plan (second release)

Second release of the Communication, Dissemination and Exploitation Plan.

WP6 - Midterm recruitment report

Midterm recruitment report Report for each clinical study to be scheduled for the point when 50 of the study population is expected to have been recruited

Project Website

The project website will be formally delivered in month 4, carrying general information about BIND and the planned public deliverables; it will then be updated at regular intervals, to report on activities, events, major achievements and to provide access to public deliverables.

Publications

Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy

Author(s): Mary Chesshyre, Deborah Ridout, Yasumasa Hashimoto, Yoko Ookubo, Silvia Torelli, Kate Maresh, Valeria Ricotti, Lianne Abbott, Vandana Ayyar Gupta, Marion Main, Giulia Ferrari, Anna Kowala, Yung-Yao Lin, Francesco Saverio Tedesco, Mariacristina Scoto, Giovanni Baranello, Adnan Manzur, Yoshitsugu Aoki, Francesco Muntoni
Published in:  Journal of Cachexia, Sarcopenia and Muscle, 2022, ISSN 2190-5991
Publisher: Springer Verlag
DOI: 10.1002/jcsm.12914

Partial restoration of brain dystrophin by tricyclo-DNA antisense oligonucleotidesalleviates emotional deficits in mdx52 mice

Author(s): A. Saoudi, S. Barberat, O. Le Coz, O. Vacca, M. Doisy Caquant, Tensorer, E. Sliwinski, L. Garcia, F. Muntoni, C. Vaillend and A. Goyenvalle
Published in: Molecular Therapy Nucelic Acids, 2023, ISSN 2162-2531
Publisher: Nature Publishing Group
DOI: 10.1016/j.omtn.2023.03.009

Understanding anxiety experienced by young males with Duchenne muscular dystrophy: a qualitative focus group study

Author(s): Rachel E. Trimmer, William P.L. Mandy, Francesco Muntoni, Kate E. Maresh 
Published in: Neuromuscular Disorders, 2024, ISSN 0960-8966
Publisher: Elsevier BV
DOI: 10.1016/j.nmd.2023.12.002

Abnormal Expression of Synaptic and Extrasynaptic GABAA Receptor Subunits in the Dystrophin-Deficient mdx Mouse

Author(s): F. Zarrouki, S. Goutal, O. Vacca, L. Garcia, N. Tournier, A. Goyenvalle, and C. Vaillend
Published in:  International Journal of Molecular Sciences, 2022, ISSN 1422-0067
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms232012617

The unconditioned fear response in vertebrates deficient in dystrophin

Author(s): Saba Gharibi, Cyrille Vaillend, Angus Lindsay
Published in: Progress in Neurobiology, 2024, ISSN 0301-0082
Publisher: Pergamon Press Ltd.
DOI: 10.1016/j.pneurobio.2024.102590

Duchenne muscular dystrophy patients lacking the dystrophin isoforms Dp140 and Dp71 and mouse models lacking Dp140 have a more severe motor phenotype

Author(s): Francesco Muntoni and Mary Chessyre (UCL)
Published in:  Journal of Cachexia, Sarcopenia and Muscle, 2022, ISSN 2190-6009
Publisher: Wiley
DOI: 10.1002/jcsm.12914

Emotional behavioral and brain anatomy of the mdx52 mouse model of Duchenne muscular dystrophy

Author(s): Cyrille Vaillend, A. Saoudi, F. Zarrouki, C. Sebrié, C. Izabelle, A. Goyenvalle, C. Vaillend
Published in: Disease Models and Mechanisms, 2021, ISSN 1754-8411
Publisher: The company of Biologists
DOI: 10.1242/dmm.049028

AAV-Mediated Restoration of Dystrophin-Dp71 in the Brain of Dp71-Null Mice: Molecular, Cellular and Behavioral Outcomes

Author(s): Ophélie Vacca, Faouzi Zarrouki, Charlotte Izabelle, Mehdi Belmaati Cherkaoui, Alvaro Rendon, Deniz Dalkara, Cyrille Vaillend
Published in: Cells, 2024, ISSN 2073-4409
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/cells13080718

Wechsler Scale Intelligence Testing in Males with Dystrophinopathies: A Review and Meta-Analysis

Author(s): P. Weerkamp, E. Mol, D. Sweere, D. Schrans, R. J. Vermeulen, S. Klinkenberg, P. Hurks and J. Hendriksen
Published in: Brain Sciences, 2022, ISSN 2076-3425
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/brainsci12111544

Development of a novel startle response task in Duchenne muscular dystrophy

Author(s): Kate Maresh,Andriani Papageorgiou, Deborah Ridout, Neil Harrison, William Mandy, David Skuse, Francesco Muntoni
Published in: Plos one, 2022, ISSN 1932-6203
Publisher: Public Library of Science
DOI: 10.1371/journal.pone.0264091

Networking to Optimize Dmd exon 53 Skipping in the Brain of mdx52 Mouse Model

Author(s): Mathilde Doisy, Ophélie Vacca, Claire Fergus, Talia Gileadi, Minou Verhaeg, Amel Saoudi, Thomas Tensorer, Luis Garcia, Vincent P Kelly, Federica Montanaro, Jennifer E Morgan, Maaike van Putten, Annemieke Aartsma-Rus , Cyrille Vaillend, Francesco Muntoni, Aurélie Goyenvalle
Published in: Biomedicines, 2024, ISSN 2227-9059
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/biomedicines11123243

 Psychosocial adjustment in adults with Duchenne muscular dystrophy: A pilot study on a shortened parent-report questionnaire

Author(s): P. Weerkamp, P. Collin, R. Maas, R. J. Vermeulen, S. Klinkenberg, J. Hendriksen
Published in: Neuromuscular Disorders, 2022, ISSN 1873-2364
Publisher: Elsevier
DOI: 10.1016/j.nmd.2021.10.008

Psychological test usage in duchenne muscular dystrophy: An EU multi-centre study

Author(s): Pien Weerkamp, Daniela Chieffo, Philippe Collin, Federica Moriconi, Andriani Papageorgiou, Isabella Vainieri, Ruben Miranda, Catherine Hankinson, Asmus Vogel, Sarah Poncet, Catherine Moss, Francesco Muntoni, Eugenio Mercuri, Jos Hendriksen
Published in: European Journal of Paediatric Neurology, 2023, ISSN 1090-3798
Publisher: W. B. Saunders Co., Ltd.
DOI: 10.1016/j.ejpn.2023.06.007

A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable?

Author(s): Daniela P R Chieffo, Federica Moriconi, Marika Pane, Simona Lucibello, Elisabetta Ferraroli, Giulia Norcia, Martina Ricci, Anna Capasso, Gianpaolo Cicala, Bianca Buchignani , Giorgia Coratti, Costanza Cutrona, Monia Pelizzari, Claudia Brogna, Jos G M Hendriksen, Francesco Muntoni, Eugenio Mercuri
Published in: Journal of Clinical Medicine, 2023, ISSN 2077-0383
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/jcm12020403

Investigating the Impact of Delivery Routes for Exon Skipping Therapies in the CNS of DMD Mouse Models

Author(s): A. Saoudi, C. Fergu, T. Gileadi, F. Montanaro, JE Morgan, V. Kelly, T. Tensorer, L. Garcia, C. Vaillend, F. Muntoni and A. Goyenvalle
Published in: Cells, 2023, ISSN 2073-4409
Publisher: MDPI
DOI: 10.3390/cells12060908

Social and emotional alterations in mice lacking the short dystrophin-gene product, Dp71

Author(s): Rubén Miranda, Léa Ceschi, Delphine Le Verger, Flora Nagapin, Jean-Marc Edeline, Rémi Chaussenot, Cyrille Vaillend
Published in: Behavioral and Brain Functions, Issue 20, 2024, Page(s) https://behavioralandbrainfunctions.biomedcentral.com/articles/10.1186/s12993-024-00246-x, ISSN 1744-9081
Publisher: BioMed Central
DOI: 10.1186/s12993-024-00246-x

Networking to Optimize Dmd exon 53 Skipping in the Brain of mdx52 Mouse Model

Author(s): Mathilde Doisy, Ophélie Vacca, Claire Fergus, Talia Gileadi, Minou Verhaeg, Amel Saoudi, Thomas Tensorer, Luis Garcia, Vincent P Kelly, Federica Montanaro, Jennifer E Morgan, Maaike van Putten, Annemieke Aartsma-Rus , Cyrille Vaillend, Francesco Muntoni, Aurélie Goyenvalle
Published in: Biomedicines, 2023, ISSN 2227-9059
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/biomedicines11123243

Language Development in Preschool Duchenne Muscular Dystrophy Boys

Author(s): Language Development in Preschool Duchenne Muscular Dystrophy Boys
Published in: Brain Sciences, 2022, ISSN 2076-3425
Publisher: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/brainsci12091252

Partial Restoration of Brain Dystrophin and Behavioral Deficits by Exon Skipping in the Muscular Dystrophy X-Linked (mdx) Mouse

Author(s): Faouzi Zarrouki Karima Relizani Flavien Bizot Thomas Tensorer Luis Garcia Cyrille Vaillend Aurélie Goyenvalle
Published in: Ann Neurol., 2022, ISSN 0364-5134
Publisher: John Wiley & Sons Inc.
DOI: 10.1002/ana.26409

Brain Dp140 alters glutamatergic transmission and social behaviour in the mdx52 model of Duchenne muscular dystrophy

Author(s): Hashimoto Y, Kuniishi H, Sakai K, Fukushima Y, Du X, Yamashiro K, Hori K, Motohashi N, Imamura M, Hoshino M, Yamada M, Araki T, Sakagami H, Takeda S, Itaka K, Ichinohe N, Muntoni F, Sekiguchi M, Aoki Y.
Published in: Prog Neurobiol., 2021, ISSN 0301-0082
Publisher: Pergamon Press Ltd.
DOI: 10.1016/j.pneurobio.2022.102288

Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency

Author(s): Kate Maresh, Andriani Papageorgiou, Deborah Ridout, Neil A Harrison, William Mandy, David Skuse, Francesco Muntoni
Published in: Research Article (peer reviewed), 2022, ISSN 1460-2156
Publisher: Oxford University Press
DOI: 10.1093/brain/awac048

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