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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

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: 2021
Publisher: Elsevier
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

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

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

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

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

 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

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

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

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