News

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…

In people with Rett syndrome, cells known as fibroblasts have a distinct protein production profile — called a proteome — that overrepresents biological pathways related to immune function and inflammation, a small study reports. These findings may help researchers better…

Anavex 2-73 (blarcamesine), an investigational treatment for Rett syndrome, lessened the disease’s characteristic behavioral features, its severity, and levels of the glutamate biomarker with no serious side effects, top-line results of a Phase 2 clinical trial in adult patients show. Based on these findings, Anavex Life…

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…