Angelman clinical trial enrolls children to test new treatment
Phase 3 study to evaluate obudanersen in kids, adults
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Enrollment of the first group of participants in a Phase 3 clinical trial testing obudanersen in people with Angelman syndrome is complete, with 136 children taking part in the study to determine whether the treatment can improve communication.
The REVEAL study (NCT06914609) will evaluate the therapy in kids and adults. Ionis Pharmaceuticals, the company developing obudanersen and sponsoring the trial, said it expects top-line data in the second half of 2027. If the results are positive, data from the children’s portion may support regulatory applications. Adult participants are still being recruited at dozens of sites worldwide.
The children in the study will be randomly assigned to receive obudanersen or a placebo, given by injection into the spinal canal every three months for about a year. The study’s main goal is to determine whether obudanersen can improve communication abilities, as measured by a subscale of the Bayley Scales of Infant and Toddler Development-4.
“Completion of enrollment in the pivotal cohort of REVEAL marks an important step towards a potential disease-modifying treatment for people living with this serious and complex neurological condition, for which there are no approved medicines,” Holly Kordasiewicz, PhD, executive vice president and chief development officer at Ionis, said in a company press release.
Trial participants to reflect ‘real-world diversity’ of disease
Angelman syndrome is caused by mutations that affect the UBE3A gene. Nearly everyone inherits two copies of this gene, one from each biological parent. But in some parts of the brain, only the copy inherited from the biological mother acts as normal. Angelman develops when this maternal copy of the gene is absent or dysfunctional.
Obudanersen, also called ION582, is designed to activate the copy of the UBE3A gene inherited from the biological father. In doing so, the therapy aims to restore a functional version of the gene in cells where the maternal copy isn’t functioning properly, addressing the root cause of the disease. A Phase 1/2 study (NCT05127226) indicated that the experimental therapy has a favorable safety profile and may ease the severity of Angelman symptoms.
The REVEAL study is enrolling patients with a deletion or mutation in the maternal UBE3A gene. In addition to children, the study is enrolling a separate group of adult patients aged 18 to 50. That group will also test obudanersen against a placebo, and researchers will evaluate the therapy’s safety profile and its effects on various measures of development and Angelman symptom severity.
Ionis said it expects to complete enrollment of the adult group in the next few months.
“Guided by input from the Angelman community, REVEAL was intentionally designed to evaluate obudanersen across a broad range of people living with Angelman syndrome, reflecting the real-world diversity of this condition,” Kordasiewicz said.
Ionis is planning a separate Phase 3 clinical trial, CHAMPION, to test obudanersen in people with Angelman who have uniparental disomy — meaning patients inherited two copies of the UBE3A gene from the father and none from the mother — or imprinting defects, where the maternal copy of the gene is present but is not activated the way it should be. The company said it is on track to launch the CHAMPION study before the end of 2026.
Liliana Alejandra Gutiérrez Borgo
Tengo la esperanza un Mundo mejor para mi nietita de 3 añitos, Isabella. Y confío plenamente en que todo lo que están probando con niños y los ensayos, son una respuesta desde el Cielo.. 💙 🙏🏻
Éxitos para los Laboratorios que están avanzando con todo para nuestros Ángeles... 💙🙏🏻
Desde Lima, Perú 🇵🇪 Liliana