Patricia Inácio, PhD, science writer —

Digestive issues and growth deficits are common and persistent symptoms among classical Rett syndrome patients, according to a long-term study. No correlation was found between the type of mutation in the MECP2 gene, the chief cause of the disease, and the severity of digestive symptoms, which “emphasizes the need…

The behavior of MeCP2, the protein missing or defective in most people with Rett syndrome, is far more dynamic than was known, according to a study by U.S. researchers that provides new insights into the mechanisms underlying the rare condition. MeCP2 was previously believed to exert its regulatory functions…

The probiotic Lactobacillus plantarum PS128 was found to ease involuntary leg muscle contractions, known as dystonia, in Rett syndrome patients, according to a pilot study that tested the supplement’s impact on neurological outcomes. Noting that Rett syndrome “often involves gastrointestinal symptoms and gut microbiota imbalances,” the researchers had sought…

Unravel Biosciences has teamed up with Quality Chemical Laboratories (QCL) to manufacture materials for clinical trials of RVL001, an investigational therapy for Rett syndrome. RVL001 (vorinostat) will be tested in proof-of-concept trials in the U.S. and Colombia. Last year, the U.S. Food and Drug Administration (FDA)…

Sound processing — part of a complex system in the brain — is impaired in girls with Rett syndrome, and those impairments correlate with deficiencies in the children’s speech skills, a new study found. In their work with more than 40 children with Rett, a team of researchers in…

Taking a long time to fall asleep and having increased rapid eye movement (REM) sleep correlate with a higher burden of purposeless hand movements, called stereotypies, in girls with Rett syndrome, a new study shows. These findings may also suggest a “higher risk of insomnia in individuals with [Rett]…

Among experienced physicians, neurologists are reportedly more comfortable than pediatricians in treating people with Rett syndrome, according to a survey conducted in the U.S. Neurologists also consider more tools than pediatricians do when diagnosing patients with Rett, data show. These findings highlight the need for “better education and support…

Leriglitazone, an oral treatment candidate for neurological diseases, can improve the function of mitochondria — known as the powerhouse of the cell — in lab studies with cells from Rett syndrome patients and in a mouse model of the disease. Specifically, leriglitazone therapy restored energy production and reduced oxidative…

TSHA-102, an experimental gene therapy for Rett syndrome now being tested in clinical trials, has been granted fast track status by the U.S. Food and Drug Administration (FDA). “We are pleased to receive FTD [fast track designation] from the FDA, which underscores the significant unmet medical need in patients…

Acadia Pharmaceuticals has expanded its licensing agreement with Neuren Pharmaceuticals to commercialize Daybue (trofinetide) — the first and only therapy approved for Rett syndrome — outside of North America. Daybue was originally developed by Neuren, which licensed its rights in North America to Acadia in 2018.