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February 20, 2020February 21, 2020

Patients, Supporters Worldwide Recognizing Rare Disease Day 2020

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An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and ... Read more

February 18, 2020February 18, 2020

GeneTx Opens First Clinical Study Site of GTX-102, Potential Angelman Treatment

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GeneTx Biotherapeutics has received institutional review board approval to start a Phase 1/2 clinical trial of GTX-102, its investigational therapy for the treatment of Angelman syndrome. While Rush University Medical Center ... Read more

February 11, 2020February 11, 2020

FDA Efforts to Bring Patients into Treatment Decisions Focus of NORD Webinar

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The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous ... Read more

February 5, 2020February 5, 2020

With Post-Brexit Move to Amsterdam Complete, EMA Renews Rare Disease Focus

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The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over ... Read more

February 4, 2020February 4, 2020

Early Research Identifies Ion Channels as Key Players and Potential Therapeutic Target in Angelman Syndrome Epilepsy

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Using human nerve cells and three-dimensional “mini brains,” researchers have found that dysfunctional potassium channels may underly the development of seizures associated with Angelman syndrome. Their study, “Potassium channel dysfunction ... Read more

January 28, 2020January 28, 2020

Trial Enrollment Upcoming for GTX-102 Following FDA Activation of Its New Drug Application

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GTX-102, a potential treatment for Angelman syndrome, is cleared for clinical trials, thanks to the activation of its investigational new drug (IND) application by the U.S. Food and Drug ... Read more

January 21, 2020January 21, 2020

Case Report Highlights Need for Nutritional Research in Angelman Syndrome

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Nutrition is an important but under-discussed aspect of care in Angelman syndrome (AS), according to a case report that described the use of a gastronomy button in a child ... Read more

January 14, 2020January 14, 2020

FANS Trial Testing Ketone Supplementation to Help Control Seizures in Children With Angelman Syndrome

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A clinical trial is evaluating the safety and tolerability of a nutritional formulation containing the ketone beta-hydroxybutyrate (BHB) as a treatment to help control seizures in children with Angelman ... Read more

January 7, 2020January 7, 2020

Fertility Treatments Can Increase Risk of Angelman Syndrome, Other Disorders, Mouse Study Finds

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Fertility treatments could make babies more prone to genetic errors that lead to the development of Angelman syndrome and other disorders, an early study in mice has found. Contrary ... Read more

December 17, 2019December 17, 2019

Mosaic Angelman Should be Included in the Differential Diagnosis of People With Milder AS Symptoms, Study Suggests

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Clinicians should consider mosaic Angelman syndrome in the differential diagnosis of people who show milder symptoms of the disorder, a study suggests. The study, “Preserved expressive language as a ... Read more

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