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…
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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,…
Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…
Lowering the levels of two proteins involved in nerve cell development and tightly linked to the activity of UBE3A — the enzyme that is faulty in Angelman syndrome — could be an attractive way of reversing the deficits in nerve cell communication that characterize UBE3A-related disorders, according to a recent…
Neuren Pharmaceutical’s candidate NNZ-2591 has shown positive effects in a mouse model of Angelman syndrome, treating all symptoms of the disease, the company announced. These results were used to submit an Orphan Drug application to the U.S. Food and Drug Administration (FDA). Angelman syndrome…
Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…
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