The age when symptoms appear varies. Most babies with Rett syndrome seem to grow normally for the first 6 months before any signs of the disorder become obvious. Researchers once thought that children with RTT never showed any symptoms before 6 months. But more recent studies have shown that t...
Rett syndrome (RTT) is a severe, progressive, neurodevelopmental disorder, which affects predominantly females. In most cases, RTT is associated with pathogenic variants in MECP2. MeCP2, the protein product of MECP2, is known to regulate gene expression and is highly expressed in the brain. ...
Rett syndrome (RTT) has enjoyed remarkable progress in achieving specific therapies. RTT, a unique neurodevelopmental disorder first described in 1966, pro
Evaluation of current pharmacological treatment options in the manage- ment of Rett syndrome: from the present to future therapeutic alternatives. Curr Clin Pharmacol 2013 Nov; 8(4):358-69.Chapleau, C.A., Lane, J., Pozzo‐Miller, L., and Percy, A.K. (2013). ...
Research from Harvard University Points to Potential New Avenue for Treatment of Rett Syndrome March 11, 2015 in Uncategorized | Tags: Benyam Kinde, Harrison Gabel, Harvard Medical School, MECP2, MECP2 Duplication Syndrome, Michael Greenberg, rett, Rett Syndrom Research Trust, rett syndrome, RSR...
treatment using intracerebroventricular (ICV) administration, which has been shown to maximize the delivery of the therapeuticMECP2gene to key areas of the brain underlying Rett syndrome pathobiology. Clinical-grade NGN-401 for this trial was manufactured at Neurogene’s Good Manufacturing Practices ...
Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). Almost two decades of research into RTT have greatly advanced our understanding of the function and regulation of the mul
Trofinetide was approved by the US Food and Drug Administration for the treatment of Rett syndrome (RTT) in March 2023. Benefiting the ability to communicate in RTT is often identified as the most important caregiver goal for new therapies. This analysis reports the communication-related end poin...
Rett syndrome is a neurodevelopmental disorder caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2). Spontaneous recurrent discharge episodes are displayed in Rett-related seizures as in other types of epilepsies. The aim of this paper is to investigate the seizu...
development of new therapeutics for Rett syndrome Helen Leonard1* , Wendy Gold2, Rodney Samaco3, Mustafa Sahin4, Timothy Benke5 and Jenny Downs1 Abstract Rett syndrome is associated with severe functional impairments and many comorbidities, each in urgent need of ...