Hi Cure,

Don’t miss your chance to order Joyfully Josie, a new children’s book written by a fellow rare disease advocate in honor of her daughter who lives with a severe genetic mutation!



If you have updates you would like to be included in next week’s newsletter, please email us at info@cureangelman.org.

We are sad to report that Roche has decided they will not initiate any new trials of rugonersen (RO7248824) in Angelman syndrome. If you are currently participating in the study, you should be hearing from the Investigator or their team at the site where your child is enrolled regarding important information about next steps for your child. 

Roche made this tough decision after looking at the current Phase 1 study results. The good news is that this was not based on any safety concerns. Roche stated that they set a hurdle for efficacy to be able to continue to invest in the development of this ASO. The results from their analysis showed “encouraging effects on EEG” (a biomarker of the drug’s effect on AS), but unfortunately the other effects they compared in treated patients versus the natural history did not meet their internal criteria to keep the rugonersen program going. So Roche has decided to try to find another company that would be willing to take charge of the rugonersen program.

So what does this really mean? The early safety results from the Phase 1 trial were acceptable, but the early effects were less than they hoped to see.

We know this is disappointing, first and most importantly for the families who have been in this trial. Before anything else, we want to acknowledge that this news is harder for you than anyone else, and we all, as a community, owe you our deepest gratitude. Your sacrifices and time spent were on behalf not just of your own loved ones but all of ours. Every study provides valuable insights and new knowledge about AS, and this one is no exception. 

Read the full update here:

We are excited to share the news that Ionis Pharmaceuticals has opened a clinical trial location in Paris! This marks the first trial site in France. The French community has been working tirelessly with key stakeholders and families for years to make this happen. This announcement is why FAST France has been working toward! 

Charlotte Préstat, Co-chair of FAST France, says “This trial is the first trial for a neuro-developmental disorder in France and this will happen on Angelman Syndrome. This would never have been possible without our small group of parents and clinicians who believed 4 years ago that this could be achievable. We spent thousands of working hours, sleepless nights, long distance trips, beliefs, disillusions, hopes, virtual meetings, and finally: achievement! We’ve never felt so proud in our entire life!”

FAST France is one of 7 global chapters (with more to come!). FAST works toward making sure communities across the world are organized and prepared to participate in studies for potential therapeutics. 

Learn more about FAST’s global affiliates here.

Click here to learn more about ongoing clinical trials and studies for Angelman syndrome:

Since the 2022 FAST Global Science Summit & Gala, we have asked the community to take action in several ways and one of them was to be a science ambassador for FAST. The goal of this initiative is to gather volunteers interested in the science aspect of Angelman syndrome and formally educate them on the ins and outs of the science that impacts their loved ones.

This group just completed an intense 3-workshop bootcamp, led by Dr. Nycole Copping, our science director. We are very excited for them to help the FAST Science Team educate the community — so watch out for our Science Ambassadors in future newsletters and on social media! 

Meet the Science Ambassadors:

FAST often collaborates with other rare disease patient advocacy groups in the research space, so today, we are excited to share a new children’s book written by a fellow rare disease advocate. Cofounder of the FOXG1 Research Foundation, Nicole Johnson, recently published Joyfully Josie in honor of her daughter, Josie, who lives with a severe mutation of the FOXG1 gene.

Children’s books are great tools to help other children (and even adults) understand disabilities, medical challenges, and inclusion. We are so proud of Nicole’s accomplishment and excited to share this book with the Angelman syndrome community! 

You can purchase the book here:

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