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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…

Abnormal breakdown of lipid (fat) molecules known as sphingolipids may be involved in the development of Rett syndrome, and their levels could be used as a biomarker for the disorder, a pilot study reports. The research, “Sphingolipid Metabolism Perturbations in Rett Syndrome,” was published in the journal…

The U.S. Food and Drug Administration (FDA) has granted rare pediatric disease designation to Anavex 2-73 (blarcamesine) for the treatment of Rett syndrome. This designation provides priority review to investigational treatments that have the potential to provide clinically meaningful benefits in serious rare diseases mainly affecting individuals younger than 18. If…

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…

Ten new mutations in the MECP2 gene have been identified in a group of children and adults with Rett syndrome, a Japanese study reports. The study, “Ten novel insertion/deletion variants in MECP2 identified in Japanese patients with Rett syndrome,” was published in the journal…

Treatment with Anavex 2-73 was seen to improve motor skills, acoustic responses and visual acuity in a mouse model of Rett syndrome, supporting ongoing Phase 2 studies in patients. Its use also helped to lessen abnormal movements and ease breathing in these mice, its researchers said. The study, “…

In partnership with the Rett syndrome community, Newron Pharmaceuticals has launched a groundbreaking International Rett Syndrome Burden of Illness Survey. The first of its kind, the study will examine the physical, emotional, and financial impact of Rett syndrome on patients, families, and caregivers. Its findings are expected…

A Phase 3 clinical trial is recruiting girls and young women with Rett syndrome to explore the safety and efficacy of the investigational oral therapy trofinetide. The study, named LAVENDER, is planning to enroll 180 girls and women, 5 to 20 years old, at clinical sites in the…