Patricia Inacio, PhD, science writer —

Pinnacle Hill will start a second project aimed at the development of a treatment for Angelman syndrome based on changing gene activity, the company announced. Pinnacle Hill is the result of a partnership between the University of North Carolina (UNC) at Chapel Hill and Deerfield Management,…

The first patient has been dosed in GeneTx Biotherapeutics’ Phase 1/2 KIK-AS clinical trial evaluating GTX-102 for the treatment of Angelman syndrome. “Today is an important milestone with the dosing of the first patient in the KIK-AS study,” Scott Stromatt, MD, chief…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

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 no currently approved medications. Neuren Pharmaceuticals, the company that develops the therapy, submitted the applications…

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,…

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…

The European Commission (EC) has granted orphan drug designation to Ovid Therapeutics’ OV101 for the treatment of Angelman syndrome. The therapy is being tested in the Phase 3 NEPTUNE trial that soon will begin enrolling participants. Orphan drug status is intended to encourage therapies for rare and serious diseases,…

Nonverbal Angelman syndrome patients can learn new information by exposure to repeated auditory stimuli, a new study shows. Measuring brain electrical activity can help evaluate patients’ auditory learning and memory capacity. The study, “Feasibility of using auditory event-related potentials to investigate learning and memory in nonverbal individuals with Angelman…

New data from Ovid Therapeutics’ Phase 2 STARS trial shows that treatment with oral candidate OV101 once daily at a dose of 15 mg significantly improves sleep and motor skills in adult and adolescent Angelman patients. Alex Kolevzon, MD, professor of psychiatry and pediatrics at the Icahn School…

The Angelman Syndrome Foundation has awarded a $200,000 research grant to investigate the use of CRISPR-Cas9 gene editing technology as a therapy to rescue the faulty gene underlying the disease. A rare but serious disease, Angelman syndrome is caused by the absence or malfunction of the UBE3A gene. We inherit two…