Lindsey Shapiro, PhD, science writer —

Long-term treatment with Anavex 2-73 (blarcamesine) provided sustained reductions in disease severity and progression for adult Rett syndrome patients, according to findings from the open-label extension (OLE) part of a Phase 2 trial. The reductions were significantly greater in patients who were initially assigned to Anavex 2-73 in…

For caregivers of people with Rett syndrome, symptoms related to communication, mobility, and functional hand movements are the most important targets of treatment, according to a recent survey. When asked about all the symptoms included on the Rett Syndrome Behavior Questionnaire (RSBQ) — a standard way of evaluating Rett…

Treatment with the diabetes medication metformin for four months led to cognitive improvements and restored brain energy production in a mouse model of Rett syndrome, a study found. Notably, the therapy’s benefits were observed when administered in a relatively advanced stage of disease — one in which the…

A so-called positive allosteric modulator aimed at increasing activity at a subset of muscarinic acetylcholine receptors (mAChRs) — called M1 receptors — improved behavior and eased respiratory symptoms in a mouse model of Rett syndrome, a study found. The beneficial effects of the compound, dubbed VU595, could in part…

Cannabidivarin (CBDV) treatment was well tolerated and reduced the monthly frequency of seizures in five children with Rett syndrome, according to data from a Phase 1 trial. “In our small patient cohort [group] of children with drug resistant epilepsy and MECP2-related RTT [Rett syndrome], CBDV treatment was well tolerated…

Note: This story was updated May 3, 2022, to clarify that survey responses were collected from 216 families in the U.S., U.K., and Canada. Several barriers to dental care — notably a lack of understanding by clinicians and long waitlists — were reported by caregivers in a recent study…

Treatment with omega-3 fatty acid restored the function of mitochondria, the production centers of cellular energy, in brain cells called astrocytes lacking MeCP2 — the key protein in most cases of Rett syndrome, a study reported. The study, “Docosahexaenoic acid increased MeCP2 mediated…

Scientists were able to improve memory recall in Rett syndrome mice by activating a set of inhibitory brain cells called somatostatin-expressing interneurons (SOM), in part by using a miniature microscope that allowed them to monitor the animals’ neurons. Deficiencies in the SOM nerve cells contributed to impairments in long-term…