Anavex Life Sciences is launching a clinical trial to assess the safety and efficacy of its small molecule therapy Anavex-2-73 (blarcamesine) in children and adolescents, ages 5 to 18, with Rett syndrome. The international trial, named EXCELLENCE (Anavex-2-73-RS-003), plans to recruit approximately 69 participants. It will begin…
Several compounds already approved by the U.S. Food and Drug Administration (FDA) can increase the expression of the KCC2 protein in nerve cells, easing motor and respiratory symptoms in a mouse model of Rett syndrome. The study, “Pharmacological enhancement of KCC2 gene expression exerts therapeutic effects…
The pattern of X chromosome inactivation in female patients with Rett syndrome is not the only contributing factor for disease severity, a study contends. The research, “X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients,” was published in Scientific…
Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…
AveXis is postponing plans to open a clinical trial of its Rett syndrome gene therapy candidate AVXS-201. “Out of caution,” it will instead conduct additional preclinical tests and quality controls checks before asking for new regulatory approval for a study in patients. In a statement to the…
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…
Chemical modifications in the protein KCC2 that accelerate its activity during brain development may alleviate some of the cognitive and behavioral symptoms of several neurodevelopmental disorders, including Rett syndrome, a mouse study has found. The study, “Developmental Regulation of KCC2 Phosphorylation Has Long-Term Impacts on Cognitive Function,”…
Monkeys with Rett syndrome pay more attention to stronger social visual stimuli than healthy animals do, an eye-tracking study has found. The findings, “Social-Valence-Related Increased Attention in Rett Syndrome Cynomolgus Monkeys: An Eye-Tracking Study,” were published in Autism Research. Rett syndrome is a rare genetic…
Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…
Implementation of meta-analysis — a statistical approach that combines information from different studies — using data from studies on the protein and genetic landscape of Rett syndrome is essential to discover new therapeutic targets for this disease, according to a recent review. The study, “Genome-wide transcriptomic and proteomic…
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