The ORCA (Observer-Reported Communication Ability) outcome measure

The ORCA (Observer-Reported Communication Ability) outcome measure

In 2018, FAST funded Dr. Bryce Reeve of Duke University to create a novel communication measurement tool as an outcome measure assessment of caregiver observations of a child’s ability for expressive communication in nonverbal patients with complex communication needs like Angelman syndrome (AS).  We are happy to announce that not only was Dr. Reeve successful in creating such a tool, but that it is being used by others in the Angelman space. This successful partnership and strong engagement with the Angelman community allowed the development of the Observer-Reported Communication Ability (ORCA) measure to be fast-tracked (<1.5 years from conception to having a measure). 

In a FAST survey among its Facebook members, 332 parents/caregivers indicated one of the most important improvements they wanted to see in their child with AS was changes in their communication. In response, FAST made improvements in communication ability one of the key markers for effectiveness of therapies to be tested in clinical trials. However, there lacked good quality parent/caregiver-reported measures of communication ability that would provide a reliable and valid assessment for individuals with AS. Recognizing this limitation, the FAST organization partnered with the Center for Health Measurement (CHM) at Duke University School of Medicine to design and evaluate a measure with the goal to use the measure in clinical trials to detect change in communication ability over time.

As a result, CHM, in collaboration with FAST, designed the Observer-Reported Communication Ability measure with direct feedback and involvement from the AS community. FAST funded the creation of the ORCA as part of our Angelman Biomarker and Outcome Measure Initiative (ABOM) efforts.  The purpose of the ABOM initiative is to create and/or identify biomarkers and outcome measures to be used in a pre-competitive spirit, non-proprietary manner across all parties’ interest in developing therapeutics for Angelman syndrome.  One of FAST’s goals in funding Dr. Reeve’s grant was to provide this valuable tool for researchers within the Angelman space, as well as for other disorders.

The ORCA measure includes 72 questions that capture various types of expressive, receptive, and pragmatic forms of communication and is able to place each individual with AS along a continuum of communication ability that allows for examination of their changes over time. The ORCA does not rely on speech, but allows gestures, vocalizations, and use of aids to capture communication ability. It takes about 15-20 minutes for a parent/caregiver to complete the measure independently without the help of a clinician or speech language pathologist.

The ORCA measure was designed following best practice recommendations by the U.S. Food and Drug Administration (FDA) and other organizations. First, the CHM team conducted in-depth interviews with both caregivers of individuals with AS and communication experts with experience working with individuals with AS to identify relevant types of communication behaviors. From these interviews, the CHM team learned of 22 communication concepts that were important to include on the ORCA measure such as seeking attention, requesting “more” of something (e.g., food), making choices, and greeting people. Second, the CHM team conducted additional interviews with caregivers of individuals with AS to make sure the questions included in ORCA were understandable and appropriate. Third, the CHM team collected responses to the ORCA questionnaire from 290 caregivers/parents of individuals with AS. With this data, the CHM was able to find strong evidence for both the reliability and validity of the ORCA measure to capture communication ability. All these steps are currently being written-up by the CHM team and FAST representatives and will be published in the scientific literature and shared with the FDA.

The ORCA measure is now being used in clinical trials and natural history studies for individuals with AS. Additionally, the CHM team is working to translate the English version of the ORCA into other languages so it may be used globally. Also, the ORCA measure may be used in other conditions/disorders that have significant communication deficits. 

Dr. Reeve is the Director for the Center for Health Measurement, as well as a Professor of Population Health Sciences and Pediatrics within the Duke University School of Medicine. Dr. Reeve is an internationally recognized psychometrician.  Dr. Reeve’s areas of expertise include developing patient-reported questionnaires using qualitative and quantitative methodologies and the integration of patient-reported data in research and healthcare delivery to inform decision-making. 

FAST Awards Drs. Silverman (UC-Davis) and Duis (Children’s Hospital Colorado) Grant to Study Gait as an Outcome Measure for Angelman Syndrome

FAST Awards Drs. Silverman (UC-Davis) and Duis (Children’s Hospital Colorado) Grant to Study Gait as an Outcome Measure for Angelman Syndrome

Movement disorders affect nearly all individuals with Angelman syndrome (AS), with the most common concerns being spasticity, ataxia (as observed in the majority of ambulatory individuals), tremor, and muscle weakness. Clinically, over time, individuals may develop a crouched gait which can cause a progressive decline in mobility.  Similar motor disorders are observed in Angelman syndrome rodent models; dysfunction on the rotarod and reduced activity have been consistently reported in AS rodents. Under this grant, this translational research will explore various aspects of gait across different age groups and will be assessed and compared from both a non-clinical (rodent) and clinical (human) perspective.

Current patient mobility tests such as the 6-minute walking test or the 4-stair climbing test are inaccurate, lack rigor and reproducibility because they are highly dependent on patient motivation at the time of assessment and are not granular enough to discover quality changes in gait over time. They represent a single time point evaluation in a controlled environment, where the patients must travel to be assessed. Functional assessments are often not representative of a skill set when a patient is in their own environment. In addition, there is associated anxiety in unfamiliar environments for both the patient and the caregiver. Knowing that an individual will perform most accurately in a familiar environment, utilizing a measure that can be applied in that setting is ideal.   

Current mobility tests in humans and rodents can be inaccurate, or not translatable; therefore, improved motor-based outcomes that can be assessed across species for gross motor skills, fine motor skills, and gait quality, require further dedicated research and resources. Drs. Duis and Silverman have narrowed down and developed several outcome assessments that can be utilized in parallel across both rodents and humans.  This grant focuses on various spatial and temporal aspects of gait as an outcome measure in both preclinical (rodent) and clinical (human) research models, and will assess how that changes across developmental ages.  

This study will test the production and accuracy of sensor-based technology in individuals with AS across all genetic subtypes (deletion, UPD, ICD, UBE3A mutation), as well as AS rodents in relationship to gross and fine motor markers. Dr. Duis will recruit 40 individuals with AS for the clinical half of the study.  Drs. Duis and Silverman will utilize cutting edge sensor-based technology such as DigiGATE, ActiMyo® (using wearable brace-anklets to collect a wide variety of motor metrics), gait laboratory assessments via treadmills and 3D motion, and Zeno walkway.   Drs. Silverman and Duis will also identify spatial and temporal parameters in the Ube3a mouse and the FAST Ube3a rat model.  The information developed through this grant will provide truly translational outcome measures to test therapeutics across age groups in both rodent and human, with the goal of expediating its utility for human clinical trials.

By increasing the number of relevant, innovative, in vivo functional outcome measures in our wheelhouse, we will create more opportunities for identifying and moving forward successful medical interventions where we have accurate ways to assess motor improvements over time.

FAST update on the impact of Covid-19

FAST update on the impact of Covid-19

While the world as we know it has changed, abruptly and dramatically, we at FAST want you to know that we are here and we continue to move forward in our mission to cure Angelman syndrome.

What COVID-19 precautions should parents of children with Angelman syndrome be taking?

Although individuals with Angelman syndrome are not known to be in the Center for Disease Control defined higher risk categories, the concerns about infection are always heightened in our community. In addition to the preventive measures we are all now very much aware of (washing hands, social distancing, disinfecting, etc.), here are a few resources you may find helpful:

How do school closures affect our children with Angelman syndrome?

We realize that as a community, our kids being home from school is more complicated than it is for their neurotypical peers. Most of our children with Angelman syndrome have IEPs (Individualized Educational Plans) which makes distance learning much more challenging. Without any formal training, we are now acting as educators, para-educators, therapists, social workers, and behaviorists. If you haven’t already done so, reach out to your child’s educational team to request a tele-consult for guidance on your child’s unique needs.

FAST advises all of us to take a deep breath, be kind to ourselves, be patient, and check out some of these helpful resources:

What local resources are available for support?

FAST has complied a list of potential resources for families within the United States that may be faced with hardship or are searching for local resources.

What is happening with FAST-funded research?

FAST has recently approved funding for three novel research projects and have several additional research contracts in process. We realize that the state mandated closures will most likely delay progress in the labs; however, as soon as restrictions are lifted, our researchers are ready, excited, and anxious to get back to the work of developing therapeutics to treat all individuals with Angelman syndrome. FAST will be sharing summaries of our exciting new research projects and our new caregiver support initiatives soon, so stay tuned!

What is happening with the GeneTx Biotherapeutics’ clinical trial?

Scott Stromatt, M.D., CMO of GeneTx Biotherapeutics provided the following update,

“The first group of patients in the clinical trial of GTX-102 have received their first dose. The clinical trial is proceeding as planned and we are closely monitoring the COVID-19 pandemic and how it might impact this clinical study. Patient safety is paramount and we are making adjustments as necessary to continue the required monitoring while reducing the burden to families where possible. The FDA has also recognized the need for flexibility for patients in clinical trials and issued a document to help companies implement changes to studies in-tended to help protect patients during this difficult time. One site is activated and treating patients, while the other six sites are in various stages of the activation process. The pandemic has slowed down the site activation process as each institution is addressing the COVID-19 pandemic in their region.”

What is happening with Ovid Therapeutic’s Angelman Trials?

Ovid clinical trials are continuing. We are closely monitoring COVID-19 and the evolving impact on families in our clinical trials. Every location where our clinical trials are being conducted faces different challenges and disruptions, so it is crucial that families and site study teams remain in close contact. Ovid is in regular contact with each site to provide guidance. In the event you lose contact with your study team, please contact Ovid and we will provide immediate support.

Currently, Ovid has two ongoing clinical trials in Angelman syndrome: The Phase 3 NEPTUNE study, and the Open-Label ELARA study. Both of these clinical trials are proceeding. The safety of every member of the Angelman community is the core focus for Ovid during this global crisis, and we plan to proceed with empathy, integrity and responsibility.

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What is happening with the Angelman Natural History Trial?

As you are probably aware, all of the institutions that are involved in the ongoing Angelman Syndrome Natural History study have suspended non-urgent clinical operations, including all elective surgeries, clinic visits, and research visits, until the pandemic is under control and the physical distancing recommendations are lifted. While we hope that research visits can be conducted again from May-June 2020 onwards, no one knows when normal operations will resume at each institution.

We greatly appreciate your ongoing support of our study. The health and safety of our families is paramount, so we will not be having in-person visits until it is safe to do so again. We plan to continue with the Angelman Syndrome Natural History study by completing the questionnaires and standardized assessments that can be performed remotely via telephone calls, Skype, Zoom, or other means.

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What is happening with the Freesias Study?

We understand those living with Angelman Syndrome and their loved ones may be facing a high level of uncertainty during this serious health situation. Patient safety is Roche/Genentech’s highest priority. As a company, we are taking COVID-19 seriously and are committed to keeping the communities we serve updated with any new information we learn that could help inform health decisions related to our medicines and clinical trials.

Roche/Genentech are taking the necessary cautionary measures and working to keep specific home based FREESIAS activities on-going for patients and families. However, site visits and home visits are all paused at the time.

  • What activities can continue:
    • Sleep mat
    • Sleep diary
    • Seizure diary
  • What activities have paused:
    • Site visits
    • Home visits (EEG/PSG)
    • Actigraphy around home visits

Any questions that you have around FREESIAS or how Covid-19 impacts the timeline, can be directed to your specific study site coordinator. Please stay well and healthy and we will continue to update the community and FREESIAS sites as information around Covid-19 evolves.

What is happening with the IONIS trial?

As the COVID-19 pandemic evolves, our main concerns are you and your health. While we continue to focus on advancing our programs which includes planning for the phase 1/2 study in Angelman Syndrome patients, we are cognizant of the strain this pandemic puts on our healthcare systems.

Ionis is carefully monitoring the situation and focused on the safety of our study participants. For patients already enrolled in clinical trials, we advise patients and families participating in our clinical studies to follow the advice provided by their clinical trial site team and abide by any guidance issued by local authorities. For our upcoming clinical trial in AS, our priority is to keep the program on track and maintain our current timeline to start the study in the fall, while maintaining the safety of everyone involved.

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What about fundraising events?

Our community members that are holding grassroots fundraising events in the immediate future are evaluating, on a case by case basis, whether their event needs to be postponed or cancelled. Although promoting your CAN page during these trying times meets the social distancing criteria, we understand that fundraising is difficult due to the economic uncertainty we all currently face. We do suggest keeping your network of supporters updated, via your CAN pages, on exciting developments in the Angelman community so that when these difficult times are behind us, we can once again count on their robust support to assist us in curing Angelman syndrome. FAST is thrilled to still be receiving donations daily and as al-ways, we are extremely grateful to our community who supports us in both good times and bad.

What about the 2020 FAST Summit & Gala?

While we do not know what the future holds, we will continue to move forward with our plans to hold the 2020 FAST Summit & Gala and are praying that it is the grand celebration we will all desperately need by that time. FAST will roll out the 2020 FAST Summit & Gala Ticket Giveaway and Scholarship Applications as normally planned, making any modifications as necessary, and will keep our community up to date at every step along the way.

We do not know how long or how vast the impact of COVID-19 will be; however, be certain, that we will continue to do our best to CureAngelmanNow! We at FAST are grateful to each one of you, for raising awareness, raising funds, being there for each other and truly, being One Committed CommUNITY!

If you have additional questions that have not been addressed in this statement, please contact us at info@CureAngelman.org.

Local Resources

FAST has complied a list of potential resources for families within the United States that may be faced with hardship or are searching for local resources. The following links may be useful for finding financial support, helping with food insecurity, and other needs at this time.

The information and links provided above are for general informational purposes only. In accessing these sites, you are leaving the www.CureAngelman.org website. These links are offered only for use at your discretion. All information and links are provided in good faith; however, by providing links to other sites, FAST does not guarantee, approve or endorse the information or products available on these sites.

FAST funds pioneering infrastructure grant

FAST funds pioneering infrastructure grant

FAST is thrilled to announce a grant to our continued partners and renowned scientists dedicated to advancing therapeutics for Angelman syndrome – David Segal, Ph.D., Jill Silverman, Ph.D., and the team at the University of California, Davis.  This grant provides the funding to build a lab devoted to Angelman syndrome (AS) research, establishing an infrastructure in which this team can evaluate multiple therapeutics simultaneously.

Dr. Jill Silverman is a behavioral neuroscientist with 18 years of training and experience focusing on preclinical rodent model systems with a strong emphasis in neurodevelopmental disorders and intellectual disability.

Dr. David Segal is a UC Davis professor of Biochemistry and Molecular Medicine with joint appointments in the Genome Center, the MIND Institute, and the Department of Pharmacology.  His area of expertise is in gene editing.

This funding will:

  • Create a stable infrastructure for rapid testing of potential therapeutics in AS rodent models through at least 2025
  • Train and retain staff dedicated to these studies, creating a new generation of scientists focused on AS research with combined expertise in molecular and behavioral components of AS
  • Provide lab equipment and supplies
  • Maintain AS cell lines and rodent model colonies at the University
  • Provide long term stability for this dedicated team to keep their focus on identifying and evaluating potential therapeutics for the treatment of Angelman syndrome

Drug evaluation is incredibly complex as various animal models and cell lines need to be carefully and thoroughly evaluated in order to gain accurate conclusions. This team has dedicated their careers to perfecting this task, and have become key opinion leaders in understanding Angelman syndrome specific models. Dr. Silverman has developed the experimental design, in collaboration with Dr. Segal, validated and standardized testing procedures, and will oversee all aspects of results interpretation.  Dr. Segal will direct the molecular analysis of the experiments.  They bring with them an impressive team of geneticists and researchers with vast experience in working with disease specific models. This program will allow external researchers and industry partners to have access to this wealth of expertise.

There are multiple pharmaceutical companies that have potentially promising therapeutics for the treatment of AS.  However, they do not have expertise in AS, or the specific tools necessary to properly evaluate these drugs for this population.  This infrastructure grant allows AS experts to provide those services and elucidate if a potential therapeutic warrants further development toward potential human clinical trials.

As examples, two new projects are currently being sent to this UC Davis team:

  • Evaluation of a small molecule in Angelman rodent models that was recently reported to rescue deficits in motor function and learning in an adult AS mouse model.  The lab will seek to independently validate these reports in mice and rats.
  • Screening of a new drug library in AS reporter neurons.  These compounds will be evaluated in primary neuronal cultures and carefully evaluate for paternal Ube3a gene activation.

FAST is incredibly hopeful about therapeutics already in and nearing human clinical trials.  But we are not finished until every person with Angelman syndrome sees a meaningful therapeutic benefit.  We keep pushing, and this lab with these amazing individuals will be part of what enables us to do this even more efficiently and effectively.

Virtually Unstoppable: A Global Experience

Virtually Unstoppable: A Global Experience

This year’s virtual Summit & Gala has proven that FAST truly is global. Over 1,700 people from 61 countries around the world tuned in to FAST’s Virtually Unstoppable Global Summit & mini-Gala. Friday’s Science Summit viewers in Japan watched the keynote speaker, Dr David Meeker, at midnight. Angelman parents in Lebanon and France joined, “lunch with friends” during their dinner. Australian registrants tuned in to the final presentations of the day with a cup of coffee in hand. Thanks to the virtual platform, anyone anywhere could participate. 

This year’s virtual Summit & Gala has proven that offering different language options is invaluable, especially for the more complicated Science Summit presentations. “Complex scientific talks would be next to impossible for non-native English speakers to understand without subtitles,” recognizes Noah Firestone, FAST Canada’s chairperson. In fact, 25% of viewers during Friday’s Science Summit presentations were watching subtitled videos.

Benedetta Sirtori, FAST Italy’s chairperson explains why a virtual event with translation was so important to the Italian community, “FAST Italy has worked so hard in trying to educate our Italian community the last three years and the virtual summit was the culmination of all that hard work. Most of the Italian Angelman syndrome community would never have connected to the virtual platform or asked for the videos to watch after the summit if they had not been in Italian. Now we have tons of messages, people were overwhelmed and willing to help….The Italian community was very impressed and is now more committed.”

Anthony Moisan, FAST France’s co-chair, expressed how important French subtitles were for the Francophone community, “Not only was this the first time that our community could get access to a clear and thorough review of what Angelman syndrome (AS) is all about and what the research routes are (thanks to FAST’s Chief Science Officer, Dr. Allyson Berent’s presentation), but also it was the first time the Francophone community could sense how much traction and momentum there is around AS research with so many labs and pharmaceutical companies entering the game.”

This year’s virtual Summit & mini-Gala had a profound effect on newly formed FAST Spain. Casilda Cebrián, board member of FAST Spain says, “The change in the Spanish community has been incredible! So many families are contacting us, interested in the cure for the first time and wanting to help. There is so much hope. Spain had 90 people register for the summit and a lot more are asking when we will have the [subtitled] videos on our YouTube channel.”

Melina Klurfan, Genetic Counselor for Casa Angelman in Argentina says, “Latin American countries tend to be left out of symposiums and scientific developments. Not only because we are physically far from the main research centers and clinical trials but also because of the language barrier. Thank you FAST for breaking this pattern and allowing us to access virtually the Science Summit with subtitled translation into our native language. For the first time, we have been able to witness such a wonderful event. COVID closed a door for us but FAST kindly opened the window to the Angelman world that we can finally be part of.”

This year’s virtual Summit & Gala has proven that, in the words of FAST’s chairperson, Paula Evans, we- our FAST community all over the world- are relentless and we are unstoppable!

FAST Conference Draws 20 Pharmaceutical Companies and Raises Over $2.2 Million for Research

FAST Conference Draws 20 Pharmaceutical Companies and Raises Over $2.2 Million for Research

Downers Grove, IL – December 7, 2020 – The Foundation for Angelman Syndrome Therapeutics (FAST) today announced that Virtually Unstoppable, their annual Summit & Gala benefitting Angelman syndrome (AS) raised over $2.2 million during their virtual two-day conference. The conference included two science conferences, an educational and best practices workshop, and a mini-Gala featuring award winning actor Colin Farrell. The event drew representatives from 20 global pharmaceutical companies. Researchers from 11 companies and academic institutions presented on their unique Angelman syndrome therapeutic approaches.

The science summit featured updates on multiple clinical trials, including two antisense oligonucleotide programs. The Translational Research Symposium and the Angelman Syndrome Outcome Measure and Biomarker Consortium (ABOM) featured presentations from the top scientists and industry leaders in this space on UBE3A gene isoform discoveries, real word data on the use of AS biomarkers and specific outcome assessment instruments, plus multiple potential gene therapy strategies, among other topics.

“The excitement at the FAST 2020 Conference was ‘virtually’ palpable! It’s clear the passion and dedication of the community is what drives the truly innovative science and tremendous progress towards a treatment for individuals with Angelman syndrome. Ionis is proud to be part of such an amazing community,” stated Rebecca Crean, Ph.D., Director, Clinical Development, Ionis Pharmaceuticals, Inc. “I look forward to the FAST meeting every year, not only to connect with some of the best and brightest researchers in the field of AS, but also to hear the inspiring stories of AS families which remind me why I’m so lucky to be a part of this vibrant community,” stated Rob Komorowski, Ph.D., Senior Clinical Scientist, Biogen.

“The FAST Virtual Summit is a collaborative initiative, engaging patients and families, as well as researchers and scientists, to work together toward finding a treatment for individuals with Angelman syndrome. It’s truly incredible to see all that can be accomplished when passionate and collaborative minds come together. Taysha Gene Therapies is grateful to be a part of this dynamic community,” stated Emily McGinnis, MPH, Chief Patient Officer and Head of Government Affairs, Taysha Gene Therapies.

“Seeing researchers, pharma and biotech representatives, and families from all over the world getting together at FAST was remarkable! The way I like to look at this is that we are all walking on a bridge of knowledge that needs to be built together step-by-step in order to bring a meaningful treatment to all families! It was a great and motivating experience. Thank you to FAST and all the families for their support!” stated Brenda Vincenzi, MD, Medical Director, PD Neuroscience, Roche.

The virtual platform allowed Angelman parents and caregivers an opportunity to interact, network and fundraise, despite Covid-19 challenges. “The astounding amount of funds raised during the event is a true testament to this community’s dedication to improving the lives of individuals affected by Angelman syndrome,” stated FAST Chairperson and GeneTx CEO Paula Evans.

“The weekend was ‘virtually’ incredible,” stated FAST’s CSO and GeneTx COO Allyson Berent, DVM, DACVIM. “Our global community listened to the most groundbreaking therapeutic advances in Angelman syndrome research, which has grown exponentially. All participants were impressed by the momentum and commitment of our academic, industry and clinical partners dedicated to finding meaningful treatments for those living with Angelman syndrome.”

About Angelman Syndrome

Angelman syndrome is a rare, neurogenetic disorder caused by loss-of-function of the maternally inherited allele of the UBE3A gene. It is estimated to affect 1 in 12,000 to 1 in 20,000 people globally. Individuals with Angelman syndrome have developmental delays, balance issues, motor impairment, and debilitating seizures. Some are unable to walk and most do not speak. While individuals with Angelman syndrome have a normal lifespan, they require continuous care and are unable to live independently. There are no currently approved therapies for Angelman syndrome; however, several symptoms of this disorder can be reversed in adult animal models of Angelman syndrome, suggesting that improvement of symptoms can potentially be achieved at any age.

About FAST

FAST (Foundation for Angelman Syndrome Therapeutics) is a Section 501(c)(3) nonprofit research organization singularly focused on funding research that holds the greatest promise of treating Angelman syndrome. FAST is the largest, nongovernmental funder of Angelman-specific research. Paula Evans, the mother of a girl with Angelman syndrome, founded FAST in 2008. In 2017, FAST formed GeneTx Biotherapeutics to develop GTX-102 for human clinical trials. More information can be found at www.CureAngelman.org.

Contact
Paula Evans
info@CureAngelman.org
630-852-FAST

The Next Frontier in FAST Funded Research

For 12 years FAST has been working diligently to fundraise, identify research opportunities, and wisely invest in science in order to develop real and effective treatments for our loved ones living with Angelman syndrome (AS). Thanks to your fundraising dollars, FAST has funded important pre-clinical work, developed much-needed outcome measures, and played an integral role in forming a pre-competitive space for pharmaceutical companies and scientists to share their findings to further advance AS research. We are proud that the Angelman community now has two gene altering treatments in clinical trials as well as one down-stream targeted treatment option.

FAST thanks you, our dedicated and determined community. Because of your tireless fundraising efforts, FAST has been able to commit $20 million to meaningful AS research grants that have accelerated the trajectory for a viable therapeutic in Angelman syndrome. You have brought us to where we are today. You are truly amazing!

However, we are not finished. We will not stop until every individual with Angelman syndrome has access to a meaningful therapeutic, regardless of genotype or age.

Yesterday’s fundraisers fund today’s science. Today’s fundraisers will fund tomorrow’s science. Tomorrow’s science will lead to the next groundbreaking approach in the treatment of Angelman syndrome. That is why fundraising for FAST is still imperative.

Here are the incredible research grants your fundraising dollars have developed in 2020:
Pilot feasibility of an enzyme replacement therapy for Angelman syndrome
Rodent Studies of Non-Snord 116 Paternal Ube3a activation
FAST Infrastructure grant to develop a core AS-specific facility as a resource for developing and evaluating various treatments for Angelman syndrome
– A human platform to efficiently study the most common genotype, and the various Class 1 deleted genes in Angelman syndrome
– The first Angelman syndrome specific communication measure developed by AS families and caregivers called the ORCA (Observer-Reported Communication Ability) outcome measure
– A Biorepository of Angelman syndrome IPSC lines and brain organoids
– The evaluation and utilization of the Actimyo device, a wearable to assess tolerability and characterization of Angelman syndrome specific gait patterns
Generation and characterization of a new AS mouse model that recapitulates the large deletion of human 15q11-q13 and a control line that carries a deletion of all genes in 15q11-q13 except UBE3A
– Characterization and assessment of the Angelman syndrome pig model to develop, test, and validate potential AS therapeutics
– Support various other countries in their work to identify and support individuals living with AS, like the Genetic Diagnosis Campaign in Argentina

Now what? FAST continues to invest in new key research opportunities. In order to invest, we need you to help us keep fundraising! Our community has two main opportunities to get involved. The first, the Cure Angelman Now (CAN) Community Fundraising Challenge has been an incredibly successful resource for our community to fundraise throughout the year. The 2021 CAN Community Fundraising Challenge will kick off early next year with our new platform, Just Giving.

The second opportunity for our community to support AS research is the virtual “paddle raise” during our Virtually Unstoppable mini-Gala on Saturday night, December 5th. In fact, you don’t need to wait until the mini-Gala to donate. You can donate now! Donations made between now and December 5th will be included in the scrolling sidebar throughout the mini-gala. You will be recognized for your donation in real-time during the fundraising event!

In the last three years the FAST community has raised $2.8 million through the CAN Community Fundraising Challenge and $9.9 million during the annual paddle raise at our yearly Summit & Gala. Again, you are truly amazing!

Thanks to your fundraising efforts, FAST will continue to fund groundbreaking AS science and further innovative discovery to work toward brining therapeutics to all individuals living with Angelman syndrome. Because today’s fundraisers will fund tomorrow’s science. Tomorrow’s science will lead to the next state-of-the-art approach in the treatment of Angelman syndrome.

Let’s #CureAngelmanNow

 

 

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