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A Phase 2 trial of NNZ-2591, Neuren Pharmaceuticals’ investigational oral therapy for Angelman syndrome, has started recruiting pediatric patients in Australia. The Australian study — which was also given regulatory clearance in the U.S. — will be conducted at three hospitals in that country: one each in Queensland, New…

Note: This story was updated July 13, 2022, to correct the name of Rare-X’s CEO Charlene Son Rigby. Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world.

An intervention combining goal-oriented physical therapy with electrical stimulation of the brain via a device placed on the tongue led to marked gains in walking ability and other areas for a child with Angelman syndrome, according to a new report. The study, “Improvement in Gait and Participation…

Most children with Angelman syndrome experience substantially delayed development, a new study from China highlights. Such developmental delays are especially pronounced in Angelman patients who experience seizures — which implies that seizure control may be beneficial for the development of children with the neurological disorder. The findings indicated…

The U.S. Food and Drug Administration (FDA) has granted both orphan drug and rare pediatric disease status to ION582, Ionis Pharmaceutical’s investigational treatment for Angelman syndrome. The announcement of the new FDA designations — both aimed at encouraging the therapy’s development — follows the launch of the…

The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…

A novel gene therapy that codes for a version of the UBE3A protein that can be secreted by cells outperformed a gene therapy coding unmodified UBE3A protein in a rat model of Angelman syndrome, a new study reports. The study, “Improving Gene Therapy for Angelman Syndrome with…

Lower the levels of a small RNA molecule called miR-134 was shown to protect against seizures for both old and young mice in a model of Angelman syndrome in a study. The study, “AntimiR targeting of microRNA-134 reduces seizures in a mouse model of Angelman syndrome,” was…

Mice with Angelman syndrome (AS) show clear abnormalities in walking patterns, and assessing these patterns may be useful for measuring the efficacy of potential therapies, a new study indicates. “Gait analysis proved a reliable, translational assay that can accomplish within-subject lifespan development, regression, progression and/or decline without confounding test–retest…

A previously unreported variant in the UBE3A gene caused an inherited form of Angelman syndrome in six members of a Chinese family, a study reports. The finding expands the genetic spectrum of Angelman syndrome and supports genetic counseling for those affected, its researchers said. The study, “…