News

Newron Pharmaceuticals is expanding the International Rett Syndrome Burden of Illness Survey to Europe and Australia in partnership with the worldwide Rett patient advocacy community, following strong participation from caregivers and medical professionals in the United States. Launched last November in the U.S., the survey is being extended…

High-quality speech therapy and more access to augmentative and alternative communication (AAC) tools are needed in schools for girls with Rett syndrome, according to a U.S. survey. The survey’s findings, “Special Education Supports and Services for Rett Syndrome: Parent Perceptions and Satisfaction,” were published in…

The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…

The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.

The U.S. Food and Drug Administration (FDA) has granted fast track designation to Anavex 2-73 (blarcamesine) for the treatment of Rett syndrome. Fast track designation is intended to accelerate the development and review of experimental therapies aimed at treating serious or life-threatening conditions, with potential to address…

Mutations in the MECP2 gene — the most common cause of Rett syndrome — impair the activity of nerve cells in the brain that are important for learning, a study in mice reports. The findings also suggest a critical time window for treatments to be successful in people…

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…

Using several models of Rett syndrome, scientists have discovered a direct, time-dependent relationship between MeCP2 — the protein altered or with lowered levels in most cases of this disorder — and GABAA receptors, which are important for normal communication between nerve cells. The findings suggest that treating Rett…

A specific modification made in the huntingtin protein, which plays a key role in brain development, was able to improve motor and lung function and prolonged the survival in a mouse model of Rett syndrome, a study has found. In particular, this alteration promotes the transport of…

Researchers have identified an unusual genetic variant in the EEF1A gene as the likely cause of Rett syndrome-like disease in a young Australian girl. After standard genetic testing failed to identify the cause of her disease, researchers turned to the more advanced whole-exome sequencing (WES) technology…