A Big Year for Angelman Syndrome
Mary Parker

A Big Year for Angelman Syndrome

Hope for patients with several potential drugs in the pipeline

Dr. Allyson Berent, Chief Operating Officer of GeneTx Biotherapeutics (pronounced “genetics”), has good reason to be optimistic about 2020. The company she co-founded, a for-profit entity formed by the nonprofit group Foundation for Angelman Syndrome Therapeutics (FAST), is on the cusp of seeing their antisense oligonucleotide (ASO) enter human clinical trials. Their potentially disease modifying drug will enter human clinical trials in February, just in time for Rare Disease Day.

The drug is designed to activate the paternal copy of the UBE3A gene. In most cases of Angelman syndrome, the maternal copy of the gene is deleted or otherwise non-functional. The normally dormant paternal copy could be activated to provide potential benefits to patients living with Angelman syndrome like Quincy, Allyson’s 5 year old daughter.

“The foundation has been working on many other therapeutic platforms, but this one is the most advanced currently,” Allyson said.

If the clinical trials go as planned, they should begin in February. Twenty patients will be selected for the first trial out of potentially thousands across the United States.

This result marks one of the most promising moments for FAST, which was founded in 2008 by Paula Evans, the chairperson of FAST and the CEO of GeneTx Biotherapeutics. The vision of the organization from inception was to help find meaningful treatments to improve the lives of those living with Angelman syndrome. The disease affects the central nervous system, resulting in various symptoms like the inability to speak verbally, debilitating seizures, and a movement disorder. It is not a fatal diagnosis, with most patients living otherwise long lives, though it causes hardship for patients and caregivers. Parents like Allyson are eager for therapies that could allow their children to live a more independent and symptom free life.

In the meantime, Allyson is thrilled to finally see major traction in this area of clinical research.

“The story is not just about GeneTx,” she said. “The whole Angelman space has really exploded. I do feel that FAST was a large impetus for that explosion, funding millions of dollars for drug discovery, clinical outcome assessments, and translational research. FAST was integral in helping to derisk many aspects of translational research for Angelman syndrome, and for that we are very proud.”

Announcements for advances in clinical programs for Angelman syndrome came fast and thick at the end of 2019, just in time for the FAST gala and conference where the foundation raised approximately $3 million to further support their work, while 4 different pharmaceutical companies announced their clinical trials would aim to be starting in 2020.

“At the conference, GeneTx announced that they are starting their Phase I clinical trial in the first half of 2020,” she said. “At the same conference, Roche and Ionis also announced they are starting their clinical trials in 2020. We went from no upstream disease modifying therapeutics for Angelman syndrome in trials three months ago, to three this year alone, which is amazing for all of our children.”

More great news in 2019? GeneTx and Ultragenyx Pharmaceuticals announced a new partnership, where Ultragenyx gained an exclusive option to acquire GeneTx under certain terms. “The partnership is an amazing step for Angelman syndrome, bringing a remarkable pharmaceutical company into this space who really understands rare disease and cares deeply for the patients,” said Berent.

“This is an exciting time, and I am hopeful that the next few years are going to be transformative for the community and for these children living with Angelman syndrome and many other neurogenetic disorders,” said Allyson. “This is what we have all been waiting so impatiently for.”

To learn more about Angelman Syndrome, check out this recent Eureka Podcast and Eureka blog.