FAST Science Summit Brings Message of Hope and Raises Funds

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by Margarida Maia, PhD |

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Researchers brought a message of hope for the Angelman syndrome community as they discussed advances in treatment and scientific knowledge at the recent 2021 FAST Global Science Summit and Gala in Austin.

Hosted by the Foundation for Angelman Syndrome Therapeutics (FAST), the annual event is an opportunity for members of the community to meet, learn about the latest scientific progress, and raise funds for more research.

“This community does have the power to alter the course of this disease and that’s why we’re going to win,” said David Segal, PhD, a keynote speaker and professor at the University of California, Davis School of Medicine, at the end of his presentation, “Now is the time for molecular therapy.”

He talked about therapies that target the molecular basis of Angelman syndrome and why “hope for this community has never been higher.”

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The summit’s more than 20 presentations were broadcast live in 15 languages, with people watching from 38 countries. It brought together 1,555 individuals from around the globe, with 661 meeting in person and 894 logging in virtually. They were joined by 37 research partners and 28 pharmaceutical companies, according to the foundation’s website.

Keynote speaker Jan A. Nolta, PhD, director of the stem cell program at University of California, Davis School of Medicine, and director of the Institute for Regenerative Cures, kicked off the summit by discussing the stem cell and gene therapy approaches that could apply to neurological disorders like Angelman syndrome in her presentation, “Stem cell & gene therapy platforms.”

Other researchers spoke of advances in gene therapies and other treatments that are either entering or moving forward in clinical trials.

Jim Wilson, MD, PhD, director of the Gene Therapy Program and Orphan Disease Center at the University of Pennsylvania, is working on multiple fronts to replace or repair the disease-causing mutated ubiquitin protein ligase E3A (UBE3A) gene in a murine model of Angelman.

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Joseph “Joe” Anderson, PhD, and Mehrdad Abedi, PhD, from the University of California, Davis School of Medicine, announced that their gene therapy using patient-derived hematopoietic stem cells (immature cells that can give rise to all types of blood cells) is currently in studies that may help lead to an investigational new drug designation. This type of research is done to assess how toxic a therapy could be prior to starting studies in humans. A clinical trial in adults and children with Angelman syndrome is planned to start soon.

Becky Crean, PhD, executive director of clinical development at Ionis Pharmaceuticals, announced HALO, a new Phase 1 clinical trial of an antisense oligonucleotide (ASO) — a short piece of DNA or RNA that can block a cell’s ability to make a certain protein — to be given intrathecally (into the spinal canal) as a potential treatment for Angelman syndrome.

Scott Stromatt, MD, chief medical officer at GeneTx Biotherapeutics, and Elizabeth Berry-Kravis, MD, PhD, from Rush University Medical Center in Chicago, provided an update on the Phase 1/2 clinical trial of GTX-102, another intrathecally delivered ASO. The findings showed that GTX-102 resulted in clinical improvements in various aspects such as communication, socialization, daily tasks, and gross and fine motor skills.

Brenda Vincenzi, MD, from Roche Pharmaceuticals, announced that 43 children have been enrolled thus far in TANGELO (NCT04428281), a Phase 1 clinical trial evaluating the safety of RO7248824, a potential therapy that is given into the spine under general anesthesia. Children ages 1–4 are to be recruited soon in the U.S., while older children ages 5–12 are fully enrolled across the world.

There was also news on NNZ-2591, an investigational therapy being developed by Neuren Pharmaceuticals. Nancy Jones, PhD, vice-president of clinical development at Neuren, shared that the therapy improved behavior and cognition, and lessened motor problems and seizures in a mouse model of Angelman. A Phase 2 clinical trial is expected in Australia soon.

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One other topic was FAST’s Accelerated Roadmap for a Cure, including a new initiative called the Angelman Syndrome Search and Rescue Mission that seeks to identify every person in the world living with Angelman syndrome.

The summit also hosted educational workshops for caregivers, therapists, and teachers, and vending booths displaying goods and services to support those living with Angelman syndrome.

As FAST’s signature fundraising event, the closing gala raised “a significant amount of money to advance many programs for Angelman syndrome forward in parallel,” according to a press release.

It featured keynote speaker Edwin Weeber, PhD, a professor at the University of South Florida, plus a live performance from Casey McPherson of Alpha-Rev, and a rare disease advocate, and the “show-stopping” entertainment from Skyrocket.

Pictures from the summit and the gala can be found here and here.