News

By targeting a protein called BRD4, an experimental cancer treatment known as JQ1 reversed cellular abnormalities and extended survival in a mouse model of Rett syndrome, a study shows. Results point toward BRD4 as a new potential target for Rett syndrome, scientists said. The study, “…

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

A Phase 2/3 trial evaluating the treatment candidate Anavex-2-73 (blarcamesine) in children and adolescents with Rett syndrome has started dosing participants, according to Anavex Life Sciences, the therapy’s developer. The trial, named EXCELLENCE (NCT04304482), is testing the safety and efficacy of the small molecule therapy as…

Researchers have discovered that early inactivation of the X chromosome is a two-step process regulated by two different genetic structures, a finding that may open up new possibilities for the treatment of X-related diseases, such as Rett syndrome. The study, “Xist Repeats A and B…

Treatment with the diabetes therapy metformin is able to restore energy production in the brain and reduce oxidative stress associated with Rett syndrome, a study in mice suggests. Yet, the therapy failed to ease motor symptoms in animals with fully developed disease, stressing the need for more…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

U.S. enrollment for a Phase 2 clinical trial of investigational therapy Anavex 2-73 (blarcamesine) for Rett syndrome has surpassed its initial target number of participants by nearly 50%. Anavex Life Sciences announced in a press…

Acadia Pharmaceuticals is again enrolling in its Phase 3 LAVENDER trial testing trofinetide as a treatment for girls and young women with Rett syndrome. Recruitment had been temporarily paused in March, while the U.S. took measures to control the COVID-19 pandemic. In an online letter,…

Combining conventional cognitive training with transcranial direct current stimulation (tDCS) — a non-invasive, painless brain stimulation approach — safely improves attention and language skills in girls and young women with Rett syndrome, a study reports. Data suggest that tDSC potentiates the benefits of traditional training and support their…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.