Patricia Inácio, PhD, science writer —

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…

Acadia Pharmaceuticals is asking the U.S. Food and Drug Administration (FDA) to approve its oral candidate trofinetide for the treatment of children and adults, ages 2 and older, with Rett syndrome. Over the next two months,…

People with Rett syndrome are likely to undergo an intervention at some point in their lives to ease their characteristic hand stereotypies, or continuous and purposeless hand movements, a Japanese study reported. Factors associated with this included age at diagnosis, walking difficulties, and the frequency of hand mouthing. Further studies…

The Rett Syndrome Research Trust (RSRT) has joined the new Accelerating Medicines Partnership (AMP) Bespoke Gene Therapy Consortium (BGTC), which is working to speed the development of gene therapies for rare diseases. Launched in October 2021, the consortium is the latest AMP initiative — and the first focusing…

The U.S. Food and Drug Administration (FDA) has provided positive feedback about the Rett Syndrome Global Registry — a database of clinical and caregiver-provided information on Rett syndrome patients — whose ultimate goal is to help develop novel therapeutics and a potential cure. The Rett Syndrome Research Trust…