A year after it was established by the Center for Drug Evaluation and Research (CDER), the Accelerating Rare disease Cures (ARC) Program is seeking to build on efforts to bridge the gap between patients’ pressing needs and the challenges of developing rare disease treatments. The U.S. Food and Drug…
News
Following lackluster data in Phase 1 testing, Roche announced it will not initiate new trials of the experimental therapy rugonersen (RO7248824) in treating people with Angelman syndrome. Although the therapy “has demonstrated an acceptable safety profile,” the company stated in a release, it will “not to move forward…
JettSet1 Enterprises is partnering with preclinical stage biopharmaceutical company Biom Therapeutics to help it develop BIO017, a plant-derived cannabinoid treatment candidate for Angelman syndrome. JettSet1 has partnerships across various industries, from biotech and film to beverage and real estate. It was founded earlier this year by George…
Parents of children with Angelman syndrome are less economically productive, which results in millions of dollars of lost productivity for society as a whole, according to a new study in Australia. “The present study highlights the significant impact that caring for a child with [Angelman syndrome] imposes on parents’…
Despite having few signs and symptoms of Angelman syndrome (AS), an infant boy was eventually diagnosed by genetic testing as a result of his nonspecific developmental delays and unexplained low muscle tone, according to a case study. “This report is a good example for giving clinicians a lower threshold…
Increases in autophagy, a pathway for clearing cellular waste, were observed in cell and mouse models of Angelman syndrome (AS) in a recent study that revealed new details of this disease mechanism. Researchers noted that it isn’t yet clear whether this increase is a compensatory process to help restore…
Ultragenyx Pharmaceutical has been cleared by the U.S. Food and Drug Administration to proceed to higher dosing of its investigational gene therapy GTX-102 in children and adolescents with Angelman syndrome in a Phase 1/2 clinical trial. The amendment to the KIK-AS trial (NCT04259281) protocol in the…
The Angelman Syndrome Alliance (ASA) is currently accepting grant applications from scientists who are doing basic research to enhance understanding of Angelman syndrome and possibly pave the way toward future treatments. “Researchers of any country are invited to apply for research grants covering ‘basic science’ research that can…
A 9-month-old boy was diagnosed with Angelman syndrome alongside two genetically inherited diseases affecting the skin and hearing, a case study reported. According to researchers, this is the first case of Angelman reported with epidermolysis bullosa (EB), a rare disorder characterized by fragile skin that easily blisters and…
The diuretic bumetanide helped to improve cognition and lengthen the time to a seizure in a mouse model of Angelman syndrome, according to a new study from Japan. Bumetanide worked by blocking NKCC1, a protein that regulates the flow of chloride and other electrolytes in the body, all key in…
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