Patricia Inácio, PhD, science writer —

Taysha Gene Therapies has raised $30 million and established a partnership with UT Southwestern Medical Center to expand its gene therapy program for neurological disorders caused by mutations in a single gene, called monogenic diseases, including Rett syndrome. The funding will allow the company to expand its…

Anavex Life Sciences announced plans to continue to screen and enroll patients into its active trials for Rett syndrome and Alzheimer’s disease, in accordance to institutional rules and government guidance related to the COVID-19 pandemic. A Phase 2 study of people with dementia linked to Parkinson’s disease is fully…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

Scientists in Iran have identified two new mutations in the MECP2 gene in two young girls with Rett syndrome. The findings draw attention to the need to focus on a specific portion of MECP2 during genetic screening for Rett. The study, “Two novel mutations in…

Parents of adolescents with Rett syndrome and other neurological or psychiatric conditions are open to treatment with deep brain stimulation (DBS) to control disease symptoms, a survey shows. The findings of “Parental Attitudes Toward Deep Brain Stimulation in Adolescents with Treatment-Resistant Conditions” were published in the…

Genes that are normally silenced in the X-chromosome transition from an “off’ to an “on” state at different speeds, an event that is dependent on the action of certain proteins and enzymes, according to a recent study. These findings may one day help design a targeted therapeutic strategy for…

Anavex Life Sciences is launching a clinical trial to assess the safety and efficacy of its small molecule therapy Anavex-2-73 (blarcamesine) in children and adolescents, ages 5 to 18, with Rett syndrome. The international trial, named EXCELLENCE (Anavex-2-73-RS-003), plans to recruit approximately 69 participants. It will begin…

Different domains used to assess quality of life in children with Rett syndrome also may be useful for adults, a study suggests. The study, “Using directed-content analysis to identify a framework for understanding quality of life in adults with Rett syndrome,” was published in the journal Disability and…

The first patient has been dosed in Anavex Life Sciences’ AVATAR Phase 2 trial, taking place in Australia, and evaluating the safety and efficacy of Anavex 2–73 for the treatment of Rett syndrome. Anavex 2–73, developed by Anavex Life Sciences, is a small molecule that activates a protein…

A new Phase 2 clinical study to evaluate the investigational therapy candidate Anavex 2-73 for the treatment of Rett syndrome has started in Australia, Anavex Life Sciences and the Rett Syndrome Association of Australia (RSAA) announced. The study (NCT03941444), named AVATAR,…