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Different mutations that cause Rett syndrome can have divergent effects on brain cell activity, a study found. The findings “hold promise for understanding mutation-specific mechanisms of Rett syndrome, and developing targeted mutation-specific therapeutics,” the researchers wrote. Through a series of experiments using cell models, the researchers identified biochemical strategies…

New recommendations support the use of the ready-to-use liquid formulation of trofinetide, sold as Daybue, as a first-line therapy for eligible people with Rett syndrome. A panel of 25 experts in managing the disease reached consensus on the recommendations. The panel endorsed early treatment initiation and an…

Daybue Stix, a powder formulation of Daybue (trofinetide), is now widely available for eligible people with Rett syndrome in the U.S., according to Acadia Pharmaceuticals, which markets both therapies. “The availability of DAYBUE STIX gives us an additional, flexible way to administer trofinetide, which allows us more…

Fenfluramine, an add-on medication already approved for certain types of epilepsy, may also help to reduce the frequency of hard-to-treat seizures in children with Rett syndrome, according to a new case series. The therapy specifically reduced seizures in three out of four girls with Rett syndrome who had…

Daybue Stix (trofinetide), a powder formulation of Daybue (trofinetide) approved to treat adults and children ages 2 and older with Rett syndrome, may be used interchangeably with the original strawberry-flavored, ready-to-use liquid formulation. That’s according to results from a Phase 1 study showing that a single 12,000…

MIT researchers have discovered that tiny blood vessels in the brains of people with Rett syndrome may be more permeable, or “leaky,” according to a new study. Using miniature models of blood vessel systems built with cells derived from Rett patients, the team found that this leakage was driven…

Modulating nerve cells to boost production of the mutant form of the MeCP2 protein that causes most cases of Rett syndrome may be a promising new therapeutic strategy for easing symptoms of the genetic condition. That’s according to new research in which U.S. scientists investigated this key protein using…

Acadia Pharmaceuticals will request a reexamination of a negative opinion recommending against approval of trofinetide, its oral therapy for Rett syndrome, in the European Union (EU). The therapy is already approved in the U.S., Canada, and Israel under the name Daybue. The opinion was issued by the Committee…

A lack of enough MecP2 protein, a hallmark of Rett syndrome, may impair sensitivity to pain before the onset of motor symptoms, a new study suggests. The study used female mice with mutations in one of the Mecp2 gene copies (Mecp2-het), which leads to a deficiency of the MecP2…

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…