Recap of the 2019 FAST Global Summit & Gala

Members of the FAST Community,

We sit at the intersection of hope and reality. We are here because of our supporters' tenacious fundraising, as you can see by the FAST-funded programs below, and the work of the brightest scientific minds in their field.

The FAST Board hopes this message finds those who were able to attend the 2019 Global Summit and Gala safely home and those who shared in our excitement through our live feeds or social media, filled with tremendous joy as we watch our wildest dreams coming true.

We close out this year and turn our attention to a transformational new year, 2020. Please join us on this journey by following along with our social media channels. FAST will keep you informed regarding the announced trials and new efforts to #CUREangelmanNOW . This is an incredibly exciting time for Angelman syndrome , and we thank you for your continued support.

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🧬 Ovid Therapeutics reported on the progress of OV101 into Phase 3 clinical trials with the NEPTUNE trial!

🧬 Ionis Pharmaceuticals announced their ASO will be headed to clinical trial in the second half of 2020!

🧬 Genentech/Roche Pharmaceuticals announced their ASO will be headed to clinical trial in 2020!

🧬 GeneTx, in partnership with Ultragenyx, Inc,. announced that their gene altering ASO therapy will be headed to clinical trial in the FIRST half of 2020!

🧬 Researchers from UC Davis announced there was full behavioral rescue in both newborn AND adult mice with Angelman syndrome. This was using a human gene therapy candidate that should be ready for clinical trials in the next 12 months!

🧬 Disruptive Enterprises reported on their recruitment and clinical trials of exogenous ketone supplement in AS!

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🧬 Neuren Pharmaceuticals, Inc. announced their drug NNZ-2591 will begin phase 1 trials in Australia with Phase 2 trials in the US in the second half of 2020! ⁠⠀

Our summit was called “Focus on Pharma” and that title was fitting and on point. We learned about the innovations occurring in viral vector delivery of gene replacement by the partnership of Amicus Therapeutics and UPenn (funded by FAST) as well as by PTC Therapeutics (supported by FAST). We also heard about the STARS and Neptune trials of OV101 by Ovid Therapeutics. And this was just before lunch.

We returned to listen to researchers from UC Davis describe their lab success treating Angelman syndrome using Hematopoietic Stem Cell (HSC) gene replacement therapy (funded by FAST) – an approach which showed full behavioral rescue in newborn and adult mice. In that moment, they removed notions of a therapeutic window and, as our CSO Allyson Berent remarked, “putting the concept that 'age matters' behind us and letting human trials prove that ALL individuals living with Angelman syndrome may very well benefit from gene replacement or gene altering therapies, regardless of age.”

This news hit a stunned and grateful audience who then heard about the progress of exciting symptomatic therapies including the ongoing clinical trial by Disruptive Nutrition using exogenous ketone supplements (funded by FAST) and a new set of 2020 trials of Neuren’s compound NNZ-2591 to take place in the US and Australia. This and the grand announcements that three companies – Genentech/Roche Pharmaceuticals, Ionis, and GeneTx (a FAST initiated biotech) would be launching paternal gene activation trials in 2020, led us into an unforgettable gala where our keynote speaker, Ultragenyx CEO, Dr. Emil Kakkis, summed up our feelings so perfectly,

“The lights are getting brighter and they are coming to rescue you with everything they’ve got. You are no longer alone. There is hope.”

As soon as additional information about these clinical trials become available, FAST will provide the information through our webpage and social media channels.

While we wait in anticipation, there are things you can do today, as parents and caregivers, to get ready and accelerate both the announced trials and any future trials.

Today, you can participate in the ORCA survey to help create the most comprehensive assessment tool and outcome measure on communication by those with AS.

You can also join the Global Angelman Registry or, if you have already joined, go back and ensure that you have completed all sections , something only a small fraction of participants have done.

2019 has been one of those years, I'm sure we've all had one. One where it feels like for every ten steps forward you take three hundred steps back. My family was at a loss, way too many times and wishing this year would come to a close was a constant plea. I have to say I was resolved to cruise past the gala with my sights set on a new year.

When I arrived in Chicago for my first gala, I dove right in, and I am so very glad I did. Like many had promised, I became almost immediately consumed with excitement, hope, and joy. I'm a BIG fan of celebrating successes - not drowning in comparisons of where my son is compared to others his age, typical or not. The 2019 FAST Gala was most certainly a celebration of the successes of our community.

I am no longer in a rush for 2019 to come to a close, and I will confess that I am still living on the high of the 2019 FAST Gala and enjoying all the post-gala social media. Yet while 2019 closed on a high note, I know I speak for us all when I say that I am ready for 2020 – the year of human clinical trials treating individuals with Angelman syndrome.

As FAST CSO Allyson Berent so passionately described during the gala, "life is so often based on FIRST TIMES." Well, my friends, we are on the cusp of a new first time, where parents will never again hear that their child's diagnosis has no transformative treatment. This is what HOPE feels like.

When I returned home, my two-year old son began pulling himself up for the first time and contemplating taking that first step. In the moment it reminded me of all the work that brought us to this point and of all the new friends I made at the gala that I would be sharing the video of his accomplishment. To my FAST family, cheers to the New Year and I can’t wait to see you at the next gala.

Your Friend,