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PERSPECTIVE article

Front. Med.
Sec. Regulatory Science
Volume 11 - 2024 | doi: 10.3389/fmed.2024.1425038
This article is part of the Research Topic Repurposing for Small Population Needs View all 5 articles

Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity?

Provisionally accepted
Claudia Fuchs Claudia Fuchs 1*Peter A. 'T Hoen Peter A. 'T Hoen 2Annelieke Muller Annelieke Muller 3,4Friederike Ehrhart Friederike Ehrhart 5Clara D. Van Karnebeek Clara D. Van Karnebeek 3,4
  • 1 European Organisation for Rare Diseases (EURORDIS), Paris, France
  • 2 Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, Netherlands
  • 3 Amsterdam UMC location University of Amsterdam, Departments of Pediatrics and Human Genetics,, Amsterdam, Netherlands
  • 4 Emma Center for Personalized Medicine, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam UMC, Amsterdam, Netherlands
  • 5 Department of Bioinformatics, NUTRIM/MHeNS, Maastricht University, Maastricht, Netherlands

The final, formatted version of the article will be published soon.

    Rett syndrome (RTT) and Rett-like syndromes (i.e., CDKL5 deficiency disorder (CDD) and FOXG1syndrome) represent rare yet profoundly impactful neurodevelopmental disorders (NDDs). The severity and complexity of symptoms associated with these disorders, including cognitive impairment, motor dysfunction, seizures and other neurological features significantly affect the quality of life of patients and families. Despite ongoing research efforts to identify potential therapeutic targets and develop novel treatments, current therapeutic options remain limited. Here the potential of drug repurposing (DR) as a promising avenue for addressing the unmet medical needs of individuals with RTT and related disorders is explored. Leveraging existing drugs for new therapeutic purposes, drug repurposing presents an attractive strategy, particularly suited for neurological disorders given the complexities of the central nervous system and the challenges in blood-brain barrier penetration. The current landscape of DR efforts in these syndromes is thoroughly examined, with particularly focus on shared molecular pathways and potential common drug targets across these conditions.

    Keywords: Rett Syndrome, CDKL5 deficiency disorder, Foxg1-syndrome, shared molecular pathways, common drug targets

    Received: 29 Apr 2024; Accepted: 12 Jul 2024.

    Copyright: © 2024 Fuchs, 'T Hoen, Muller, Ehrhart and Van Karnebeek. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor 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.

    * Correspondence: Claudia Fuchs, European Organisation for Rare Diseases (EURORDIS), Paris, France

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.