Andrea Lobo, PhD, science writer —

Children with the MECP2 gene-related disorders Rett syndrome and MECP2 duplication syndrome (MDS) experience atypical sensory processing, according to a recent study. Deficits in the MeCP2 protein chiefly cause Rett syndrome, whereas MDS occurs due to duplication of the chromosomal region containing the MECP2 gene. Unusual sensory effects…

The use of low-dose extracorporeal shock wave therapy — a safe and noninvasive treatment known as ESWT — for three months was found to improve motor function in children with Rett syndrome. Reduced muscle stiffness, known as spasticity, also was seen among the children, but the benefits were not…

The Rett Syndrome Research Trust (RSRT) has launched a global registry for parents to share their knowledge and experiences about caring for their loved ones with Rett syndrome. Called the Rett Syndrome Global Registry, its aim is to advance the development of genetic medicines for Rett. The…

Injections of botulinum toxin in the muscles involved in chewing were found to reduce teeth grinding in an 8-year-old boy with Rett syndrome, according to a case report. Botulinum toxin blocks the release of acetylcholine, a chemical messenger, at the neuromuscular junction — the place where nerve cells and…

October is Rett Syndrome Awareness Month, and the International Rett Syndrome Foundation (IRSF) is encouraging people to go “All In” to support patients and boost critical research. “This October during Rett Syndrome Awareness Month, there are so many ways you can join IRSF to help increase awareness of Rett syndrome…

Taysha Gene Therapies, which is developing TSHA-102 as a potential Rett syndrome treatment, raised $150 million in a private placement funding round, with most of the money supporting clinical testing of this gene therapy. TSHA-102 is being evaluated in the REVEAL Phase 1/2 clinical trial (NCT05606614)…

Individuals with Rett syndrome experience a “substantial” clinical and economic burden throughout their life, according to a new real-world study in the U.S. Altogether, the study found, the high prevalence of clinical symptoms, increased use of healthcare resources, considerable healthcare costs, and great reliance on medications and supportive…

The Rett Syndrome Research Trust (RSRT) has granted $1.1 million to help advance the development of the Emerald biosensor to accurately assess symptoms of Rett syndrome. This research award will contribute to the development of the biosensor, which uses artificial intelligence to assess irregular breathing, sleep disruptions, and…

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to Ketarx (racemic ketamine) for treating Rett Syndrome. The designation is awarded to products that show promise to prevent, diagnose, or treat rare diseases. Incentives for developers include seven years of market exclusivity after approval, potential…

The Rett Syndrome Research Trust (RSRT) is supporting ongoing studies of HRP-12975, an investigational therapy for Rett syndrome, using mouse models of the disease. HRP-12975, being developed by Herophilus, is reported to be the first small molecule therapy with the potential to reverse MECP2 gene deficiency, the…