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Taysha Gene Therapies received $95 million in funding that will support the clinical development of its gene therapy program for neurological disorders that include Rett syndrome. The gene therapy for Rett is called TSHA-102 and is one of 17 such treatments being developed by Taysha. All use…

Mutations in the MECP2 gene, which lead to most cases of Rett syndrome, prevent the formation of droplet-like structures that regulate DNA accessibility in cells, a study has found. Understanding how this process works could open paths to new therapeutic strategies in Rett, researchers said. The study, “…

Note: This story was updated July 24, 2020, to note that Rett affects mostly girls and women, but can also occur in males.  About 40% of parents whose daughters have Rett syndrome show clinically high levels of stress, an Italian study found. Stress levels correlate with both disease…

For the first time, scientists have repaired a mutation in mice that underlies Rett syndrome, partially restoring lost protein function, a recent study reports. The findings provide proof of principle that a technique called RNA editing might prove an effective therapeutic strategy in humans, according to the researchers involved…

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…