Patricia Inácio, PhD, science writer —

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.

Levels of anxiety and depression in girls and women with Rett syndrome are influenced both by the individual’s type of MeCP2 gene mutation — the underlying cause of the neurodevelopmental disorder — and the presence of sleep problems, a new study reports. In particular, patients carrying p.Arg294*, a mutation…

The recent U.S. approval of Daybue (trofinetide) as the first treatment for adults and children with Rett syndrome represents a game changer, offering hope for the care of this patient community, say researchers, advocates, and caregivers. “The availability of a drug that helps with symptoms caused by Rett…

The hands and feet of people with Rett syndrome have a lower skin temperature than people without the disease, correlating with impairments in the autonomic nervous system, a study reports. Skin temperature was measured using infrared thermal imaging (IRT), which uses infrared radiation, not visible to the human eye.

The U.S. Food and Drug Administration (FDA) has given “positive” feedback to Unravel Biosciences‘ regarding a proof-of-concept study for RVL001, its investigational therapy for Rett syndrome, the company stated. Following a pre-investigational new drug (pre-IND) meeting, Unravel received a written response from the FDA providing guidance for…

Taysha Gene Therapies is recruiting women with Rett syndrome for the REVEAL Phase 1/2 study that will test its investigational gene therapy TSHA-102. This is the first trial of a gene therapy for Rett syndrome, according to the International Rett Syndrome Foundation. The open-label trial…

A set of proteins in the cerebrospinal fluid (CSF) — the fluid that flows around the brain and spinal cord — are present in unusual amounts in Rett syndrome, according to an analysis of samples from rats, mice and a small group of Rett patients. Researchers identified two particular…

Anavex Life Sciences has been granted another U.S. patent for its lead investigational oral therapy Anavex 2-73 (blarcamesine), being developed to treat neurodevelopmental and neurological disorders, including Rett syndrome, that are driven by mutations in the MECP2 gene. This latest of a series of patents to Anavex is…

Older age and increased muscle stiffness are linked with more severe scoliosis, a sideways curvature of the spine, in girls and women with Rett syndrome, according to a small study. Other factors associated with scoliosis severity included impaired walking and difficulties going up and down stairs. No link…

A total of 30 patient advocacy groups working to further understanding and the needs of people living with rare diseases have been selected to receive a Horizon Therapeutics‘ #RAREis Global Advocate Grant. Winners of this year’s inaugural awards are spread across nine countries and represent a total of 29 rare…