The National Institutes of Health (NIH) has awarded two grants totalling $6.1 million to support two research projects: one focused on the development of a new gene therapy for Angelman syndrome, and the other on understanding how genetic defects in UBE3A (the gene that causes Angelman) may…
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The U.S. Food and Drug Administration (FDA) has granted orphan drug status to candidate therapy NNZ-2591 to treat Angelman syndrome and two other childhood neurodevelopmental disorders for which there are no currently approved medications. Neuren Pharmaceuticals, the company that develops the therapy, submitted the applications…
Hypsarrhythmia — disorganized and chaotic brain activity with no recognizable pattern — may be an early marker of Angelman syndrome, according to a case study. The report, “Pseudo Hypsarrhythmia: An Early Marker of Angelman Syndrome,” was published in the Annals of Indian Academy of Neurology. Although seizures…
Whether by donating or cheering on the sidelines, people can show their support for the running team put together by the Angelman Syndrome Foundation (ASF) during the Bank of America Chicago Marathon on Oct. 13. Called the foundation’s Windy City Angels (WCA), 22 runners each raised more…
From the balcony of their spacious home in the Israeli town of Beit Shemesh, Faige and David Spolter enjoy a commanding view of the Judaean Hills, and the ancient Catholic monastery of Beit Jamal overlooking a ridge in the distance. The Spolters are modern Orthodox Jews who immigrated…
Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told Bionews Services, publisher…
A first patient has been randomized in the NEPTUNE trial, which is testing oral OV101 (gaboxadol) as a potential treatment for Angelman syndrome. Ovid, the pharmaceutical company that is developing OV101, made the announcement in a press release. OV101 is a small molecule derived from a component found…
Israel’s Sheba Medical Center at Tel HaShomer already ranks as one of the world’s 10 best hospitals, according to Newsweek magazine. Now, the institution has a new accolade: it’s the first anywhere outside North America to join the international network of specialized clinics accredited by the Chicago-based Angelman…
The Angelman Syndrome Foundation (ASF) recently honored four individuals for their exceptional contributions to the Angelman syndrome community and to advancing research. Awards were presented to a special education specialist, researcher, former executive director of the foundation, and geneticist, during the 2019 ASF Scientific Symposium and Family…
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Potential Angelman’s Treatment, GTX-102, Named Orphan Drug and Rare Pediatric Disease Therapy by FDA
A potential treatment for Angelman syndrome, GTX-102, has been granted both orphan drug and rare pediatric disease designations by the U.S. Food and Drug Administration (FDA) to support and help speed its advancement. The companies co-developing GTX-102 plan to file an investigational new drug application with the FDA in early 2020,…
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