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The U.S. Food and Drug Administration (FDA) has granted rare pediatric disease and orphan drug designations to DepYmed’s orally available small molecule PTP1B-inhibitor therapy being developed to treat Rett syndrome. According to DepYmed, a Phase 1 clinical trial is planned for later this year to investigate what the…

A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…

Note: This story was updated May 3, 2022, to clarify that survey responses were collected from 216 families in the U.S., U.K., and Canada. Several barriers to dental care — notably a lack of understanding by clinicians and long waitlists — were reported by caregivers in a recent study…

The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…

Boys with Klinefelter syndrome, a genetic condition caused by an extra X chromosome, more frequently show Rett syndrome-like symptoms than previously recognized, according to a large-scale chromosomal study in boys with neurodevelopmental disorders. The researchers also showed that Rett-like symptoms occurred alongside Klinefelter syndrome mosaicism (KSM), in…

The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…

Taysha Gene Therapies has launched the clinical development of TSHA-102, an investigational gene therapy for Rett syndrome. The move follows the recent approval of a clinical trial application (CTA) by Health Canada. The Sainte-Justine Mother and Child University Hospital Center, in Montreal, will serve as the initial clinical…

The International Rett Syndrome Foundation (IRSF) has seen its federal funding efforts rewarded in the U.S. as a bill — passed in early March for the 2022 fiscal year and signed into law by the president — will include possible research monies for Rett syndrome. The rare neurodevelopmental…

Activating the mGlu2 and mGlu3 receptors in the brain reversed learning deficits in a Rett syndrome mouse model, a study reported. The levels of both of these receptors were significantly lower in the brains of Rett mice, as well as Rett patients. These results support further investigation into mGlu2…

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…