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- Title
Development of trofinetide for the treatment of Rett syndrome: from bench to bedside.
- Authors
Kennedy, Melissa; Glass, Larry; Glaze, Daniel G.; Kaminsky, Steve; Percy, Alan K.; Neul, Jeffrey L.; Jones, Nancy E.; Tropea, Daniela; Horrigan, Joseph P.; Nues, Paige; Bishop, Kathie M.; Youakim, James M.
- Abstract
Rett syndrome (RTT) is rare neurodevelopmental disorder caused by mutations in the MECP2 gene that encodes methyl-CpG-binding protein 2 (MeCP2), a DNAbinding protein with roles in epigenetic regulation of gene expression. Functional loss of MeCP2 results in abnormal neuronal maturation and plasticity, characterized by loss of verbal communication and loss of fine and gross motor function, among others. Trofinetide, a synthetic analog of glycineproline-glutamate, was approved by the US Food and Drug Administration for the treatment of RTT in adult and pediatric patients aged 2 years and older. Here, we present the development of trofinetide from bench research to clinical studies and emphasize how the collaboration between academia, the pharmaceutical industry, and patient advocacy led to the recent approval. The bench-to-bedside development of trofinetide underscores the value of collaboration between these groups in the development and approval of treatments for rare diseases.
- Subjects
RETT syndrome; GENETIC regulation; PATIENT advocacy; THERAPEUTICS; NEUROPLASTICITY; SUMATRIPTAN
- Publication
Frontiers in Pharmacology, 2024, p1
- ISSN
1663-9812
- Publication type
Article
- DOI
10.3389/fphar.2023.1341746