Rett Syndrome Research Trust

Recent papers from Rett Syndrome Research Trust

1. Understanding Caregivers’ Experiences of Rett Syndrome: A Multinational Study of Symptoms and Meaningful Outcomes of Potential TreatmentsNeurology and Therapy · 2026
2. Single-dose administration of therapeutic divalent siRNA targeting MECP2 prevents lethality in an MECP2 duplication mouse modelNature Communications · 2026
3. Single-dose administration of therapeutic divalent siRNA targeting MECP2 prevents lethality for one year in an MECP2 duplication mouse model2025
4. A randomized, placebo-controlled, cross-over trial of ketamine in Rett syndromeJournal of Neurodevelopmental Disorders · 2025
5. Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutantsHuman Molecular Genetics · 2023
6. Systemic Proteome Phenotypes Reveal Defective Metabolic Flexibility in Mecp2 Mutants2023
7. Rett syndrome severity estimation with the BioStamp nPoint using interactions between heart rate variability and body movementPLoS ONE · 2023
8. Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndromeiScience · 2022
9. Rett syndrome severity estimation with the BioStamp nPoint using interactions between heart rate variability and body movement2022
10. Consensus guidelines on managing Rett syndrome across the lifespanBMJ Paediatrics Open · 2020
11. Arbaclofen in fragile X syndrome: results of phase 3 trialsJournal of Neurodevelopmental Disorders · 2017