Patricia Inácio, PhD, science writer —

Acadia Pharmaceuticals is asking the U.S. Food and Drug Administration (FDA) to approve its oral candidate trofinetide for the treatment of children and adults, ages 2 and older, with Rett syndrome. Over the next two months,…

People with Rett syndrome are likely to undergo an intervention at some point in their lives to ease their characteristic hand stereotypies, or continuous and purposeless hand movements, a Japanese study reported. Factors associated with this included age at diagnosis, walking difficulties, and the frequency of hand mouthing. Further studies…

The Rett Syndrome Research Trust (RSRT) has joined the new Accelerating Medicines Partnership (AMP) Bespoke Gene Therapy Consortium (BGTC), which is working to speed the development of gene therapies for rare diseases. Launched in October 2021, the consortium is the latest AMP initiative — and the first focusing…

The U.S. Food and Drug Administration (FDA) has provided positive feedback about the Rett Syndrome Global Registry — a database of clinical and caregiver-provided information on Rett syndrome patients — whose ultimate goal is to help develop novel therapeutics and a potential cure. The Rett Syndrome Research Trust…

A rare case of premature puberty was reported in an 8-year-old girl diagnosed with Rett syndrome years earlier. “A case report of precocious puberty related to Rett syndrome and a literature review” was published in the International Journal of Pharmaceutical Sciences. Reports of precocious puberty —…

Alterations in brain waves, measured using an electroencephalogram (EEG), revealed benefits of cognitive stimulation in Rett syndrome patients, a small study found. The benefits of cognitive stimulation were greater in younger girls, “highlighting that the younger the therapy is started, the better is the outcome,” the scientists wrote. The…

Insulin-like growth factor-1 (IGF-1) and oxytocin may normalize the levels of the KCC2 protein — which is abnormal in the brain of Rett syndrome patients — in a region-specific and complementary manner, a study in mice suggests. This finding supports their potential use as a combo therapy for Rett,…

Female rats genetically engineered to carry a deficient Mecp2 gene — whose mutations are the leading cause of Rett syndrome — show social, behavioral, and motor symptoms that are similar to those of humans with the neurodevelopmental disorder, a study reports. These symptoms were associated with low levels of the…

Impaired function of the MeCP2 protein — the most common cause of Rett syndrome — causes defects in a process called RNA splicing, affecting protein production from genes important for nerve cell communication. The study with that finding, “Rett syndrome linked to defects in forming the…

Binding to the zinc finger protein 483 (ZNF483) may move the MeCP2 protein — defective in most cases of Rett syndrome — away from the cell nucleus, which likely affects gene activity in nerve cells, a lab study suggests. These findings shed light on the potential processes regulating the…