News

Scientists have identified two compounds that were able to rescue nerve cell defects caused by mutations in the MECP2 gene — the most common cause of Rett syndrome — in patient-derived cellular models, including “mini-brains.” These findings support the launch of a pilot clinical trial evaluating these compounds —…

Anavex Life Sciences has received a Notice of Allowance from the U.S. Patent and Trademark Office (USPTO) for a patent application covering Anavex 2-73 (blarcamesine) and its related sigma-1 receptor (S1R) agonists in the treatment of Rett syndrome and other neurodevelopmental disorders. The…

To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

Viewers from around the world are invited to join in the virtual Reverse Rett Big Night In, a U.K. fundraiser benefitting Rett syndrome research, to be held Saturday, Dec. 5 at 3 p.m. EST (8 p.m. GMT). The live stream…

Due to the unprecedented challenges caused by the ongoing COVID-19 pandemic, GW Pharmaceutics has stopped the ARCH Phase 3 clinical trial evaluating the oral cannabidiol (CBD) solution Epidiolex in children and adolescents with Rett syndrome. The decision was made after evaluating the progress of…

Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…

The transition into adulthood of women with Rett syndrome warrants a tailored program and a multidisciplinary team to provide the best clinical care, according to a 13-year Italian study of the complex symptoms experienced by these patients. Most adults with Rett deal with symptoms ranging from epilepsy and bone…

Problems with skilled learning tasks that involve motor function and making sense of sounds — known to be affected by Rett syndrome — were seen in rat model of the disease and consistent with these deficits in patients, a study reported. These findings could support work into…

Taysha Gene Therapies and Catalent have established a partnership to advance Taysha’s gene therapies for neurological disorders, including Rett syndrome. The partnership allows Taysha to use Catalent’s gene therapy facilities in Maryland to expand the company’s manufacturing capacity. The gene therapy for Rett, called TSHA-102, uses a modified,…