Ana Pena, PhD,  —

A study in mice suggests that birth is a “critical period” in Rett syndrome (RTT), with neuronal alterations already present at that stage that might be reduced by early treatment of mothers. The study, “Early alterations in a…

Subtle but apparent signs of disease may precede the onset of overt symptoms in children with Rett syndrome (RTT), which could serve as early diagnostic markers or help deliver interventions ahead of symptoms that may increase these children’s chances of recovery. Accumulating evidence suggests that early…

A recombinant version of MeCP2 — the faulty protein in Rett syndrome — has the potential to enter the brain, encouraging its development as a protein replacement therapy for the disease, researchers say. The scientists have also developed an assay that can accurately and sensitively detect MeCP2, which…

Loss of MECP2, the defective protein in most people with Rett syndrome, induces premature growth arrest of bone marrow stem cells — known as senescence — and limits their energy production, according to a mouse study. These biological alterations may underlie the development of the disease, the researchers…

Cannabidivarin, a non-psychotic compound found in cannabis, fully rescued memory deficits and delayed the appearance of neurological and motor defects in a mouse model of Rett syndrome (RTT), a study found. The results, “Cannabidivarin completely rescues cognitive deficits and delays neurological and…

Some people with Rett syndrome have an overabundance of nerve fibers associated with the senses in their skin, which may be linked to why some patients have cold hands and feet or are insensitive to pain, a small study found. The findings,…

Physical therapy and other medical interventions, together with daily support from family and caregivers, can help adults with Rett syndrome maintain or even regain their motor skills, and remain physically active, a case report reveals. The report describes how reconstructive orthopedic surgery plus…

Investigational therapy trofinetide showed promising safety and efficacy results as a treatment for children and adolescents with Rett syndrome, according to recent data from a Phase 2 clinical trial. A Phase 3 trial is now planned for the second half of this…

Discovery and development of therapies for Rett syndrome requires better preclinical research practices and study design to raise the chances of success in the clinic, according to a study reviewing current therapy development efforts. The review study, “A Coordinated Attack: Rett…