Targeted Treatments for Fragile X Syndrome.
AFQ056
Arbaclofen
FXTAS
Fragile X syndrome
Medications
Metformin
Minocycline
Premutation
Treatments
Journal
Advances in neurobiology
ISSN: 2190-5215
Titre abrégé: Adv Neurobiol
Pays: United States
ID NLM: 101571545
Informations de publication
Date de publication:
2023
2023
Historique:
entrez:
17
3
2023
pubmed:
18
3
2023
medline:
22
3
2023
Statut:
ppublish
Résumé
The histories of targeted treatment trials in fragile X syndrome (FXS) are reviewed in animal studies and human trials. Advances in understanding the neurobiology of FXS have identified a number of pathways that are dysregulated in the absence of FMRP and are therefore pathways that can be targeted with new medication. The utilization of quantitative outcome measures to assess efficacy in multiple studies has improved the quality of more recent trials. Current treatment trials including the use of cannabidiol (CBD) topically and metformin orally have positive preliminary data, and both of these medications are available clinically. The use of the phosphodiesterase inhibitor (PDE4D), BPN1440, which raised the level of cAMP that is low in FXS has very promising results for improving cognition in adult males who underwent a controlled trial. There are many more targeted treatments that will undergo trials in FXS, so the future looks bright for new treatments.
Identifiants
pubmed: 36928853
doi: 10.1007/978-3-031-21054-9_10
doi:
Substances chimiques
Metformin
9100L32L2N
Cannabidiol
19GBJ60SN5
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
225-253Informations de copyright
© 2023. The Author(s), under exclusive license to Springer Nature Switzerland AG.
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