FAST Grant Enables Creation of Angelman Syndrome Hotline

Jessica Duis, MD

The Foundation for Angelman Syndrome Therapeutics (FAST) has announced funding to the Emergency Care Consortium grant for a global emergency and urgent care hotline.¹

The Emergency Care Consortium, funded by FAST, will be available in July 2021 for providers to connect with clinical experts in Angelman syndrome (AS). The hotline will be free of charge and available 24/7 and will enable providers to manage urgent issues in AS, especially seizures, which over 90% of individuals with AS experience.

“Our goal is to offer providers across the globe provider-to-provider consultations,” said Jessica Duis, MD, Children’s Hospital Colorado, in a statement. “We plan to utilize protocols that will translate into published evidence-based data on the treatment of Angelman syndrome. The hotline is a first-in-kind resource with an expert medical provider on service 24/7 for a rare disease. We are grateful for the opportunity to ensure that all individuals with Angelman syndrome receive the same standard of care and to provide the community with an important resource.”

The medical leadership team, consisting of Duis and colleagues at Children’s Hospital Colorado, aims to help facilitate understanding of the rare health condition and mitigate the challenges and frustration of doctors now well versed in AS. They hope to reduce misdiagnosed or undiagnosed seizures and misuse of specific antiepileptic drugs, all of which have the potential to impact long-term development or harm individuals with AS.

READ MORE: Phase 3 Trial of Gaboxadol Is Underway for Angelman Syndrome

The team will collect data about admission, medications used and seizure control post-consultation, to create global care guidelines for the emergency and urgent management of individuals living with AS. The data will provide prospective information to help clinicians to understand the protocols and management of AS and create forward-thinking recommendations for care.

“There is a vital need for access to providers with knowledge of Angelman syndrome during a time of crisis,” John Schlueter, chairperson, Board of Directors, FAST, added to the statement. “The Emergency Care Consortium grant is a novel approach to providing the best practices for seizure and urgent care management for individuals with Angelman syndrome while collecting valuable data to help improve the standard of care for our loved ones.”

UBE3A Mutations in Angelman Syndrome

FAST also recently awarded a grant to Albert Keung, PhD, assistant professor, North Carolina State University, and colleagues, to produce models to study the UBE3A deletion on the maternal copy of chromosome 15 observed in about 70% of individuals with AS. Around another 11% have a point mutation in the UBE3A gene. Keung and colleagues will create models of the chromosome 15 to evaluate therapeutics for UBE3A activation. They will also study the rarer forms of AS including uniparental disomy (UPD) and imprinting center defects (ICD), each of which are found in around 3% to 5% of individuals with AS.²

A previous FAST grant to Keung and colleagues aimed to study the 10-12 genes in the region to better understand the impact of the UBE3A gene on neuronal function and communication, and to determine the role of other genes in the region that code for excess nonsense RNA in individuals with AS. The new grant expands this study to provide cell lines with the ICD/UPD genotypes for study.

Overall, the project aims to provide the AS research community a set of cell lines that can be used to model the ICD and UPD genotypes, model the mosaic genotype, and understand the impact of gene overexpression in these different regions. The work will be shared with the AS research community and hopes to drive AS research forward and accelerate therapeutic development.

REFERENCES

1. FAST funds emergency care consortium grant for seizure hotline. News release. FAST. Published online April 26, 2021. https://cureangelman.org/emergency-care-consortium-grant-for-seizure-hotline
2. New FAST funded research project to aid in the understanding of gene activation in UPD/ICD and mosaic genotypes. News release. FAST. Published online April 30, 2021. https://cureangelman.org/fast-funded-research-understanding-of-gene-activation