Rettsyndrome.org has launched the International Rett Syndrome Foundation Medical Advisory Board, aiming to enhance care and research to help people with the neurodevelopmental disorder, according to the non-profit. The Advisory Board, composed of 11 Rett syndrome experts across leading hospitals and academic centers in the U.S., is chaired…
Girls and women with Rett syndrome caused by a mutation usually associated with milder disease have the poorest quality of life, according to a large study. Data from this and previous studies suggest that such patients experience behavioral problems, including sleep disturbances, that profoundly affect quality of life. The…
A Phase 2 clinical trial evaluating the safety and efficacy of Anavex Life Sciences‘ investigational therapy Anavex 2-73 (blarcamesine) in Rett syndrome has been completed, according to the company. Top-line results from the trial are expected before the end of the year. “We would like to…
Stimulation of the vagus nerve, when paired with sound, could help people with Rett syndrome better process what they hear, a study in rats suggests. The study, “Vagus nerve stimulation paired with tones restores auditory processing in a rat model of Rett syndrome,” was…
Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…
Children with Rett syndrome who can verbalize meaningful words are more likely to be able to walk past age 10, a study suggests. The study, “Meaningful word acquisition is associated with walking ability over 10 years in Rett syndrome,” was published in the journal Brain…
Most animal studies needed to support plans to move AVXS-201 — AveXis’ investigational gene therapy for Rett syndrome — into clinical testing in patients are complete, the company reports. AveXis hopes to soon start meeting with the U.S. Food and Drug Administration (FDA) in advance of filing…
Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…
Parents of children with Rett syndrome face difficulties with healthcare access, time management, bureaucracy, and getting social care, a Spanish study reports. The study, “Challenges Affecting Access to Health and Social Care Resources and Time Management among Parents of Children with Rett Syndrome: A Qualitative Case Study,” was…
To better understand X-linked disorders such as Rett syndrome, researchers discovered an enzyme called DCP1A that acts as a molecular switch to inactivate only one X chromosome, a process essential for normal development in females. The results were reported in the study, “…
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