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FAST: Our sole mission is a cure
 

Hi Cure,


International Angelman Day was a huge success! Thank you to everyone who participated in sharing their Moment of Hope, raising awareness about AS, wearing blue, and in a myriad of other ways.


This was just the first of many exciting days for the FAST community this year, from Rare Disease Week at the end of the month, to the 2023 Global Science Summit & Gala, and many more in between.


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

 

Pillar 4 presentation: the Observer-Reported Communication Ability Measure

Dr. Zigler speaking at the 2022 Global Science Summit, with a slide from her presentation

This week we are going to continue highlighting research that falls under Pillar 4 - Accelerating and Preparing for Clinical Trials in our Roadmap to a Cure 2.0. We will feature Dr. Christina Zigler’s update from the 2022 FAST Science Summit on the Observer-Reported Communication Ability Measure (ORCA) and how it helps to capture communication abilities in individuals living with AS.


Communication is uniquely challenging to measure in individuals living with  Angelman syndrome as most are profoundly impacted in their expressive communication abilities, while having stronger receptive and pragmatic communication abilities. This results in lower scores on the existing standard assessments that do not account for their dyspraxia and apraxia, making it very hard to test individuals living with AS in a clinical setting. Because of these challenges scores on standard neuropsychological assessments in communication often fall in the lower range of the spectrum, making it very difficult to measure change over time; those living with AS are often times not quite registering on these assessments. This is called a floor effect, which makes it difficult to distinguish between an individual’s real scores and to measure improvements that could be largely meaningful to the individual but not quite captured on the assessment. As clinical trials for Angelman syndrome are advancing there is a clear need for a meaningful and measurable communication tool, knowing that improvements in communication abilities is the leading symptom domain of desired change by most caregivers and loved ones that live with AS. After feedback from the FDA, FAST has been working with the research team at Duke University, led by Drs. Christina Zigler and Bryce Reeve, to develop a communication tool specific to Angelman syndrome. This tool is meant to be used in clinical trials. The tool is designed to carefully measure receptive, expressive, and pragmatic communication abilities in all individuals with Angelman syndrome, and is currently being utilized in all active clinical trials for Angelman syndrome. This tool is called the Observer-Reported Communication Ability Measure (ORCA).


Read more about the ORCA and watch Dr. Zigler’s presentation here:

Learn more about the ORCA
 

March Fireside Chat with Ryan Fischer

FAST March 2023 fireside chat - Sun., March 12 at 3pm ET - with Alana Newhouse and Ryan Fischer

As mentioned last week, we are pleased to welcome Ryan Fischer as our chief operating officer, who will join FAST on April 1. Alana Newhouse will sit down with him at our next fireside chat on Sunday, March 12th at 3pm ET (New York). We welcome the community to join to get to know Ryan!


Click here to register:

Register for March’s fireside chat
 

Caregiver Impact Survey update - A message from FAST & ASF

Amanda Moore from ASF and Lauren Hoffer from FAST on Zoom
Watch FAST and ASF’s video update on the Caregiver Impact Survey

Thank you to those who have completed the Caregiver Impact Survey so far! We have received 75 responses so far but are still short of our goal of 200 surveys — please help us!


Your participation will help provide valuable data to make sure insurance companies cover new Angelman therapeutics once they are approved by helping us quantify all of your lost work hours, costs, and time spent caring for loved ones with Angelman syndrome! 

 

Why is this important? Watch the full video here.

 

  • Need to build a strong value story so payers understand the financial and emotional costs AS has on families to make sure payers know immediate payment upon approval is essential for improving lives of patients with AS
  • Scientific research efforts are lost without a pricing and reimbursement strategy and market access strategy available for patients once treatments are approved
  • All the efforts now will be really helpful later! 


Log in now, complete consents, and start the survey:

Begin the Caregiver Impact Survey

Participants will receive a free FAST Backpack 🎒(while supplies last)! After completing the survey, click here to request a backpack.

 
 

Show Your Stripes for NORD’s contest!

Four NORD Show Your Stripes contest graphics featuring zebras, from the four organizations iSACRA international Sacral Agenesis Caudal Regression Association, Stxpb1 Disorders, Cacna1a Foundation, and FAST

This month, FAST was excited to participate, along with other rare disease organizations, in The National Organization for Rare Disorders (NORD) #ShowYourStripes contest, as we all gear up for Rare Disease Day on February 28th! 


Congratulations to the top 3 organizations: iSACRA international Sacral Agenesis Caudal Regression Association, Stxpb1 Disorders and Cacna1a Foundation.


FAST will be joining NORD and other rare disease organizations in Washington, DC Feb 28th – March 2nd for Rare Disease Week, which is aligned with our advocacy work being done through the FAST Advisory Council.


NORD is the leading independent patient advocacy organization representing all individuals and families affected by rare diseases in the United States. Alongside a growing network of disease-specific member organizations, professional patient advocacy groups, and industry partners, NORD improves lives, empowers patients and caregivers, and provides the right information and resources at the right time.

 

Thanks for reading, and we hope you can join our next fireside chat!


As always, please share this link with anyone who would be interested in receiving our updates.

Six children with Angelman syndrome are pictured
FAST - CFC, Charity Navigator Four Star Charity, Platinum Transparency 2022
 
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