Heterogeneity in fragile X syndrome highlights the need for precision medicine-based treatments
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- dc.contributor.author Verdura, Edgard
- dc.contributor.author Pérez-Cano, Laura
- dc.contributor.author Sabido-Vera, Rubén
- dc.contributor.author Guney, Emre
- dc.contributor.author Hyvelin, Jean-Marc
- dc.contributor.author Durham, Lynn
- dc.contributor.author Gómez-Mancilla, Baltazar
- dc.date.accessioned 2022-06-10T06:27:07Z
- dc.date.available 2022-06-10T06:27:07Z
- dc.date.issued 2021
- dc.description.abstract Fragile X syndrome (FXS) is the most frequent monogenic cause of autism or intellectual disability, and research on its pathogenetic mechanisms has provided important insights on this neurodevelopmental condition. Nevertheless, after 30 years of intense research, efforts to develop treatments have been mostly unsuccessful. The aim of this review is to compile evidence from existing research pointing to clinical, genetic, and therapeutic response heterogeneity in FXS and highlight the need of implementing precision medicine-based treatments. We comment on the high genetic and phenotypic heterogeneity present in FXS, as a contributing factor to the difficulties found during drug development. Given that several clinical trials have showed a non-negligeable fraction of positive responders to drugs targeting core FXS symptoms, we propose that success of clinical trials can be achieved by tackling the underlying heterogeneity in FXS by accurately stratifying patients into drug-responder subpopulations. These precision medicine-based approaches, which can be first applied to well-defined monogenic diseases such as FXS, can also serve to define drug responder profiles based on specific biomarkers or phenotypic features that can associate patients with different genetic backgrounds to a same candidate drug, thus repositioning a same drug for a larger number of patients with NDDs.
- dc.format.mimetype application/pdf
- dc.identifier.citation Verdura E, Pérez-Cano L, Sabido-Vera R, Guney E, Hyvelin JM, Durham L,et al. Heterogeneity in fragile X syndrome highlights the need for precision medicine-based treatments. Front Psychiatry. 2021 Sep 30; 12: 722378. DOI: 10.3389/fpsyt.2021.722378
- dc.identifier.doi http://dx.doi.org/10.3389/fpsyt.2021.722378
- dc.identifier.issn 1664-0640
- dc.identifier.uri http://hdl.handle.net/10230/53441
- dc.language.iso eng
- dc.publisher Frontiers
- dc.rights Copyright © 2021 Verdura, Pérez-Cano, Sabido-Vera, Guney, Hyvelin, Durham and Gomez-Mancilla. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). http://creativecommons.org/licenses/by/4.0/. The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
- dc.rights.accessRights info:eu-repo/semantics/openAccess
- dc.rights.uri http://creativecommons.org/licenses/by/4.0/
- dc.subject.keyword Fragile X syndrome
- dc.subject.keyword Autism spectrum disorders
- dc.subject.keyword Biomarkers
- dc.subject.keyword Heterogeneity
- dc.subject.keyword Monogenic disease
- dc.subject.keyword Precision medicine-based treatments
- dc.title Heterogeneity in fragile X syndrome highlights the need for precision medicine-based treatments
- dc.type info:eu-repo/semantics/article
- dc.type.version info:eu-repo/semantics/publishedVersion