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More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…
Early administration of a compound intended to enhance signals between brain cells lessened disease severity, and improved overall health and survival in a mouse model of Rett syndrome. The improvements, which also included benefits in nerve cell activity, indicate that treatments enhancing neuronal activity early…
Girls and young women with Rett syndrome have a high level of both participation and engagement in social and restful family activities — but are not engaged in morning and evening daily routines — a study finds. While participation in such daily routines…
The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…
An independent monitoring board has recommended that all three ongoing clinical trials of Anavex 2-73 (blarcamesine), an investigational treatment for Rett syndrome, continue without changes, based on a review of interim safety data. Anavex Life Sciences, the medication’s developer, announced the decision in a press release. Data…
MeCP2, the protein missing or defective in most people with Rett syndrome, contains a specific domain it can use to interact with different sets of DNA building blocks found in gene sequences to control their activity. After replacing the protein’s domain to prevent it from binding to a specific…
Acadia Pharmaceuticals is enrolling participants at four new clinical sites in its Phase 3 LAVENDER trial testing trofinetide as a treatment for girls and young women with Rett syndrome. In an online letter to the Rett community, Acadia announced these recent additions: Seattle Children’s Hospital; the University of North Carolina…
As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking. But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…
People with Rett syndrome can receive the COVID-19 vaccine from Johnson & Johnson and still participate in future clinical trials of the investigational gene therapy TSHA-102, the treatment’s developer has announced. “We are aware of concerns about the adenovirus vector COVID-19 vaccine from Johnson & Johnson (J&J) and its…
Early, intensive training in motor and memory skills before symptoms develop may delay disease progression and help children with Rett syndrome retain specific milestones, a study in mice suggests. Observed benefits were not evident when training was given to symptomatic animals, its researchers wrote, supporting “genetic screening of newborns…
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