Lindsey Shapiro, PhD, science writer —

Health Canada has agreed to review Acadia Pharmaceuticals’ application seeking approval of trofinetide — sold in the U.S. as Daybue — for the treatment of Rett syndrome. The regulatory body granted the application priority review, which is reserved for submissions that address an unmet need or…

Neurogene is expanding its ongoing Phase 1/2 clinical trial testing gene therapy candidate NGN-401 in girls with Rett syndrome and making some changes to the trial’s structure to accelerate enrollment and dosing. Changes include adding more patients and removing dose staggering (one-at-a-time dosing) in the trial’s first low-dose…

Two young girls with Rett syndrome have been dosed with Neurogene‘s gene therapy candidate NGN-401 in a Phase 1/2 clinical trial, with data so far indicating that the treatment has been well tolerated. Another patient is expected to be dosed in the first months of 2024, with interim…

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…