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 the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
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 in…
A conceptual model describing how Angelman syndrome (AS) tends to manifest and affect a person with Angelman and those around them was described in a recent study. The model and its often age-specific points could be useful in guiding care for Angelman, as well as in designing trials and…
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 resources, the FDA these days relies more and more on patients to…
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 two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.
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 in human neuronal models of Angelman syndrome,” was published in the journal Science.
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 Administration. Enrollment in an upcoming Phase 1/2 trial is due to begin in the first half of…
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 with the disorder who also had a swallowing dysfunction. The report was published in Lifestyle Genomics and titled “…
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 syndrome. More information about the trial (NCT03644693), called Nutritional Formulation for Angelman Syndrome (FANS), is available here. The…
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 to what was anticipated by researchers, older maternal age did not increase the frequency of such problems in mice, suggesting…
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