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November 13, 2019

Rare Disease Film Festival Highlights Patient and Researcher Unity

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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. ... Read more

November 12, 2019November 12, 2019

Dietary Supplements Folic Acid and Betaine Do Not Ease Angelman Symptoms, Small Study Finds

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Taking the dietary supplements oral betaine and Metafolin (L-methylfolate, the active form of folic acid) cannot effectively ease developmental symptoms of children with Angelman syndrome, a small clinical study ... Read more

November 5, 2019November 5, 2019

PTC Therapeutics Partners with Aldevron to Supply Quality Products for Gene Therapy Candidates

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PTC Therapeutics announced a strategic partnership with Aldevron to ensure the production of high-quality plasmid DNA to be used with PTC’s investigational gene therapies, including AGIL-AS for the treatment of ... Read more

October 29, 2019October 29, 2019

NIH Grants $6.1M to Genetic Research in Angelman Syndrome at University of North Carolina

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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 ... Read more

October 21, 2019October 21, 2019

Neuren Pharmaceutical’s NNZ-2591 Wins FDA’s Orphan Drug Designation to Treat Angelman

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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 ... Read more

October 14, 2019October 14, 2019

Chaotic Brain Activity Pattern May Be Early Marker of Angelman Syndrome, Case Study Reports

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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: ... Read more

October 7, 2019October 7, 2019

Windy City Angels Set to Run Chicago Marathon to Support Angelman Syndrome Foundation

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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 ... Read more

September 30, 2019September 30, 2019

Israeli Angelman Foundation Works to Give ‘Strength’ and ‘Answers’ to Struggling Families

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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 ... Read more

September 26, 2019

NORD 2019 Rare Disease Summit Set for Oct. 21-22 in Washington, DC

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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 ... Read more

September 23, 2019October 2, 2019

Phase 3 Trial of OV101, Possible Angelman Therapy, Randomizes 1st Patient

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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 ... Read more

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