Joana Carvalho, PhD, managing science editor —

MeCP2, the protein missing or defective in most people with Rett syndrome, contains a specific domain it can use to interact with different sets of DNA building blocks found in gene sequences to control their activity. After replacing the protein’s domain to prevent it from binding to a specific…

Impairments in the cerebellum — a brain region responsible for controlling balance and movement coordination — contribute, in part, to motor impairments associated with Rett syndrome, a mouse study has found. These findings highlight the importance of understanding which brain areas contribute to the onset of specific symptoms associated…

Despite being safe, one year of treatment with Gilenya (fingolimod) in young girls with Rett syndrome failed to ease such disease symptoms as lack of communication, motor impairments, and apraxia, or the inability to perform movements previously learned, a small Phase 1/2 trial showed. Moreover, the findings from the…

Patients with milder forms of IQSEC2‐related intellectual disability experience symptoms and have an overall clinical course very similar to those with atypical Rett syndrome, a study has found. Based on these similarities, people carrying IQSEC2 gene mutations may be included in the wide clinical spectrum of Rett, and this form…

Use of PTX-BD4-3, a small molecule that activates a protein receptor involved in a pathway that appears to be impaired in Rett syndrome, improved motor and respiratory function in a mouse model of the disease, a study found. These findings support further studies to better characterize PTX-BD4-3, possibly preparing…

Walking overground or on a treadmill is suitable as a tool to observe and detect gait changes in people with Rett syndrome, a small study has found. The study, “Characteristic behaviors associated with gait of individuals with Rett syndrome,” was published in the journal Disability…

Most animal studies needed to support plans to move AVXS-201 — AveXis’ investigational gene therapy for Rett syndrome — into clinical testing in patients are complete, the company reports. AveXis hopes to soon start meeting with the U.S. Food and Drug Administration (FDA) in advance of filing…

Blocking the activity of pro-inflammatory P2X7 receptors — a class of receptors found in immune cells and in glial cells (cells that support and protect neurons) — can reduce brain inflammation and ease defects in social behavior, a study of a mouse model of Rett syndrome shows. The research, study…

A form of gene therapy based on providing an unstable version of the MECP2 gene extended survival and improved motor function in a mouse model of Rett syndrome, a study reports. The study, “Whole brain delivery of an instability-prone Mecp2 transgene improves behavioral and molecular pathological…

The U.S. Food and Drug Administration (FDA) has granted fast track designation to Anavex 2-73 (blarcamesine) for the treatment of Rett syndrome. Fast track designation is intended to accelerate the development and review of experimental therapies aimed at treating serious or life-threatening conditions, with potential to address…