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Low levels of a protein called KCC2 disrupt the ion transport balance in nerve cells and may underlie the developmental defects in people with Rett syndrome, a study says. The study, “KCC2 expression levels are reduced in post mortem brain tissue of Rett syndrome patients,” was published in…
Two new mutations causing Rett syndrome in the KIF1A and GRIN1 genes were discovered in two Chinese infants, a study reports. This research highlights the importance of an appropriate clinical follow‐up to ensure an accurate diagnosis, as some patients with genetic metabolic diseases may initially show…
StemoniX and Atomwise will work together to discover and develop small molecules that could be potential new therapies for people with Rett syndrome. This collaboration will take advantage of StemoniX’s human microOrgan platform and combines it with Atomwise’s artificial intelligence technology to expedite the development…
Parents of adolescents with Rett syndrome and other neurological or psychiatric conditions are open to treatment with deep brain stimulation (DBS) to control disease symptoms, a survey shows. The findings of “Parental Attitudes Toward Deep Brain Stimulation in Adolescents with Treatment-Resistant Conditions” were published in the…
Newron Pharmaceuticals will meet with the U.S. Food and Drug Administration (FDA), which requested a meeting to discuss the company’ statistical plan for releasing data from its pivotal STARS Phase 2/3 study of sarizotan in treating Rett syndrome patients with breathing problems.
With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…
The altered gut bacteria found in girls with Rett syndrome influence their gastrointestinal symptoms and disease severity, making the gut microbiota a potential therapeutic target with probiotic supplementation or diet plans, a review study reports. The review, “Rett Syndrome and Other Neurodevelopmental Disorders Share Common…
Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.
Sarepeta Therapeutics and StrideBio will collaborate to advance novel gene therapies for four genetic neurological disorders, including Rett syndrome, the companies have announced. Under the agreement, StrideBio, which specializes in viral-based delivery systems for gene therapy, will conduct initial research, development, and manufacturing for the first…
The U.S. Food and Drug Administration (FDA) has granted rare pediatric disease designation to sarizotan for the treatment of breathing difficulties in people with Rett syndrome. This designation provides priority review to investigational treatments that have the potential to provide clinically meaningful benefits for people with…
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