From starting a Facebook fundraiser to handing out personalized information cards about Rett syndrome, supporters worldwide are marking Rett Syndrome Awareness Month, which occurs each October. Now, the International Rett Syndrome Foundation (IRSF) is offering up a host of ways people can “Go All In This October” to…
News
Anavex Life Sciences has been granted another U.S. patent for its lead investigational oral therapy Anavex 2-73 (blarcamesine), being developed to treat neurodevelopmental and neurological disorders, including Rett syndrome, that are driven by mutations in the MECP2 gene. This latest of a series of patents to Anavex is…
Analyzing babies’ vocalizations using machine learning could aid in the earlier diagnosis of Rett syndrome, a small study illustrates. Researchers say such vocal analysis among infants ages 6 to 11 months may help to identify signs of Rett, or fragile X syndrome, long before a child would typically…
The U.S. Food and Drug Administration (FDA) has set an action date of March 12, 2023 to decide whether or not to approve the experimental oral therapy trofinetide for Rett syndrome. If approval is granted, trofinetide would become the first treatment for Rett ever approved by the FDA.
Levels of a small RNA molecule called miR-101a may be elevated in certain brain regions of people with Rett syndrome, according to a preclinical study. The data suggest that higher miR-101a levels can alter signals sent by nerve cells, which may impair normal brain circuitry to contribute to the…
A so-called positive allosteric modulator aimed at increasing activity at a subset of muscarinic acetylcholine receptors (mAChRs) — called M1 receptors — improved behavior and eased respiratory symptoms in a mouse model of Rett syndrome, a study found. The beneficial effects of the compound, dubbed VU595, could in part…
Older age and increased muscle stiffness are linked with more severe scoliosis, a sideways curvature of the spine, in girls and women with Rett syndrome, according to a small study. Other factors associated with scoliosis severity included impaired walking and difficulties going up and down stairs. No link…
Children with Rett syndrome whose disturbed breathing eased after treatment with mecasermin, a lab-made version of the growth hormone IGF-1, had unique gene activity profiles before and in response to treatment, according to an analysis of Phase 1 trial data. These findings suggest that different molecular subgroups were evident at…
A recent meal or snack does not affect the pharmacological profile of trofinetide, an experimental oral treatment for Rett syndrome, according to findings from a Phase 1 study in healthy adults. Food can affect how a drug moves through a patient’s body, or its pharmacological profile, the researchers…
A total of 30 patient advocacy groups working to further understanding and the needs of people living with rare diseases have been selected to receive a Horizon Therapeutics‘ #RAREis Global Advocate Grant. Winners of this year’s inaugural awards are spread across nine countries and represent a total of 29 rare…
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