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…
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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…
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Parents of Rett Children in Spain Struggle With Healthcare Access, Time Management, Study Reports
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, “…
The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…
When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience. Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children…
Researchers at the Salk Institute for Biological Studies have mapped how DNA methylation — a process that controls gene expression — changes over time before and after birth in mice to better understand the underlying mechanisms of developmental disorders such as Rett syndrome. …
Taysha Gene Therapies received $95 million in funding that will support the clinical development of its gene therapy program for neurological disorders that include Rett syndrome. The gene therapy for Rett is called TSHA-102 and is one of 17 such treatments being developed by Taysha. All use…
Mutations in the MECP2 gene, which lead to most cases of Rett syndrome, prevent the formation of droplet-like structures that regulate DNA accessibility in cells, a study has found. Understanding how this process works could open paths to new therapeutic strategies in Rett, researchers said. The study, “…
Note: This story was updated July 24, 2020, to note that Rett affects mostly girls and women, but can also occur in males. About 40% of parents whose daughters have Rett syndrome show clinically high levels of stress, an Italian study found. Stress levels correlate with both disease…
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