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While early brain structures appear to form normally in Rett syndrome, problems emerge later as brain cells grow, move, and begin communicating, according to a new study using lab-grown brain models. An examination of 3D brain organoids grown from patient-derived stem cells found that certain brain cells matured more…

In Rett syndrome, certain brain cells that form before birth and mature slowly remain immature and do not develop normally, suggesting that the condition disrupts brain development in specific areas rather than the entire brain, according to a mouse study. By studying female Rett mice after symptoms appeared, researchers…

Acadia Pharmaceuticals has hit a roadblock in its quest for European approval of trofinetide, the company’s oral therapy for Rett syndrome, which is already approved in the U.S., Canada, and Israel under the name Daybue. Acadia submitted an application…

Partially restoring the production of MeCP2, the protein deficient in people with Rett syndrome, reversed abnormal nerve signaling in the brain’s visual cortex, improving visual acuity in a mouse model, a study found. “This underscores the transformative potential of genetic medicine-based therapies in [Rett], suggesting that even partial restoration…

A Phase 3 clinical trial testing the experimental gene therapy NGN-401 for Rett syndrome is underway and continuing to enroll participants, according to an update from its developer, Neurogene. The Phase 3 study, called Embolden (NCT05898620), aims to test NGN-401 in 20 girls and young women with…

The pivotal REVEAL clinical trial — a Phase 3 study testing Rett syndrome gene therapy candidate TSHA-102 — has dosed its first participant, according to an update from treatment developer Taysha Gene Therapies. REVEAL (NCT05606614) is expected to enroll 15 girls and young women with a confirmed…

The U.S. Food and Drug Administration (FDA) has approved Daybue Stix (trofinetide), a dye- and preservative-free powder formulation of Daybue (trofinetide), as a treatment for adults and children, ages 2 and older, with Rett syndrome. The new formulation will provide Rett patients greater flexibility and choice in dose…

People with Rett syndrome who also have epilepsy use more healthcare services, especially emergency room visits and hospital stays, a U.S. study reports. The increase was most pronounced in those with severe epilepsy, meaning seizures that last longer or don’t respond well to treatment. “It is important to educate…

Note: This story was updated Dec. 5, 2025, to correct the primary outcome in the Embolden study. NGN-401, an experimental gene therapy for Rett syndrome, led to functional improvements in all the girls who received the treatment in an early clinical trial, according to new data announced by its…

Fibroblasts from a Rett syndrome patient with a severe MECP2 mutation (T158M) showed markedly low levels of coenzyme Q10 (CoQ10), along with signs of mitochondrial redox imbalance and dysfunction, a lab study shows. CoQ10 helps mitochondria — the cell’s energy-producing “powerhouses” — function properly. Supplementing the fibroblasts with ubiquinol, a…