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Trofinetide—a new chapter in rett syndrome’s treatment
Frontiers in Pharmacology, 2023 Trofinetide is the first drug approved by the FDA to treat Rett Syndrome in children aged 2 years or above. The drug significantly improved Rett syndrome behavioral scores Rett syndrome behavioral questionnaire in clinical studies.
Muhammad Furqan
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Sleep Disorders in Rett Syndrome and Rett-Related Disorders: A Narrative Review
Frontiers in Neurology, 2022 Rett Syndrome (RTT) is a rare and severe X-linked developmental brain disorder that occurs primarily in females, with a ratio of 1:10.000. De novo mutations in the Methyl-CpG Binding protein 2 (MECP2) gene on the long arm of X chromosome are responsible ...
Giorgia Tascini +6 more
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Understanding Caregivers’ Experiences of Rett Syndrome: A Multinational Study of Symptoms and Meaningful Outcomes of Potential Treatments [PDF]
Neurology and TherapyIntroduction Caregivers have first-hand experience of facing the daily challenges of Rett syndrome (RTT). The aim of this study was to understand caregivers’ experiences of RTT, including challenging symptoms that caregivers hope novel therapies will ...
Bruria Ben-Zeev +13 more
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Frontiers in Integrative Neuroscience, 2020 Rett syndrome is a debilitating neurodevelopmental disorder for which no disease-modifying treatment is available. Fortunately, advances in our understanding of the genetics and pathophysiology of Rett syndrome has led to the development of promising new
Joni N. Saby +6 more
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Journal of Neurodevelopmental Disorders, 2019 Background Rett syndrome is a neurodevelopmental disorder caused by a mutation in the X-linked MECP2 gene. Individuals with Rett syndrome typically develop normally until around 18 months of age before undergoing a developmental regression, and the ...
Katherine J. Roche +5 more
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Validating the Rett Syndrome Gross Motor Scale. [PDF]
PLoS ONE, 2016 Rett syndrome is a pervasive neurodevelopmental disorder associated with a pathogenic mutation on the MECP2 gene. Impaired movement is a fundamental component and the Rett Syndrome Gross Motor Scale was developed to measure gross motor abilities in this ...
Jenny Downs +6 more
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Modeling Rett Syndrome Using TALEN-Edited MECP2 Mutant Cynomolgus Monkeys
Cell, 2017 Summary Gene-editing technologies have made it feasible to create nonhuman primate models for human genetic disorders. Here, we report detailed genotypes and phenotypes of TALEN-edited MECP2 mutant cynomolgus monkeys serving as a model for a ...
Fuxing Li, Tianzi Jiang, Jiaojian Wang
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Longitudinal trajectory of gross motor skills in school-aged children with Rett syndrome [PDF]
Frontiers in NeurologyBackgroundIn children with Rett syndrome, this study aimed to (1) describe gross motor skill trajectories; and (2) analyse the influences of genetic variant and comorbidities.MethodsThis was a prospective longitudinal study conducted at the Danish ...
Anne-Marie Bisgaard +6 more
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Unexpectedly competent immune response to SARS-CoV-2 vaccination in Rett syndrome [PDF]
Human Vaccines & ImmunotherapeuticsRett syndrome (RTT) is a rare neurodevelopmental disorder of genetic origin characterized by chronic low-grade inflammation, immune imbalance, and frequently associated with compromised respiratory function. During the COVID-19 pandemic, individuals with
Ludovica Soldateschi +14 more
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Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study
Nature Medicine, 2023 Rett syndrome is a rare, genetic neurodevelopmental disorder. Trofinetide is a synthetic analog of glycine–proline–glutamate, the N-terminal tripeptide of the insulin-like growth factor 1 protein, and has demonstrated clinical benefit in phase 2 studies ...
J. Neul +9 more
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