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

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

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 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.

Meet the Board: Nora Xu

FAST, the Foundation for Angelman Syndrome Therapeutics, is pleased to welcome Nora Xu as its newest board member. Nora’s daughter, Arbor, was diagnosed with Angelman syndrome just over a year ago. Since Arbor’s diagnosis, Nora has become active in the Angelman community.

Nora says, “I was fortunate to find the Angelman community and I was immediately amazed by the kindness that was shown to my family by community members. Arbor’s diagnosis has been a challenging journey for us, but I am thankful for the Angelman community’s support. I want to be a light to others, especially those recently diagnosed with Angelman syndrome, just as the community had done for me.

“Joining the FAST Board of Directors is an opportunity for me to advocate for the community that has supported me since Arbor’s diagnosis. Every day I am inspired by Arbor’s inch stones. Her inch stones are what motivates me to push forward – not just for her, but for every child and adult with Angelman syndrome. There are many things that I have been unable to control along this journey of being diagnosed, but I will continue to do everything in my control to help find a cure for Angelman syndrome. I am excited and energized to bring my experience to the FAST Board of Directors.”

Nora resides in Seattle, Washington, and is the Group Marketing Manager for Microsoft. In her role at Microsoft, Nora leads a team focused on integrated marketing programs and initiatives to establish a unified message for Microsoft Advertising. Nora has over 10 years of combined experience at Microsoft. Prior to her current role at Microsoft, Nora worked as a product marketing manager for well-known mobile and web application brands. She is a graduate of the University of Waterloo in Canada. Nora brings 20 years of extensive marketing experience with a background in creative marketing, storytelling, strategic partnerships and community engagement to the FAST Board of Directors. Please join FAST in welcoming Nora to the Board of Directors.

FAST is directed by an unpaid, all-volunteer board, consisting solely of parents of individuals living with Angelman syndrome. Each board member is dedicated to curing Angelman syndrome through funding a robust and aggressive research agenda. FAST’s research initiatives are focused at identifying potentially transformative therapeutics to address the symptoms of AS.

FAST is committed to assisting all individuals living with Angelman syndrome, regardless of age or genotype, to realize their full potential and quality of life through effective therapeutics. FAST operates as an impartial organization to drive collaboration and sharing across the industry, including pharmaceutical companies, research institutions, and other organizations globally. FAST is served by two boards: the board of directors and an independent scientific advisory board; in addition, FAST collaborates with numerous experts that serve as advisors. Together, FAST is working hard to bring practical treatments into current medical practice as quickly and safely as possible.

To learn more about FAST, please visit cureangelman.org. Consider contributing to FAST by making a financial gift, spreading the word with friends and family members, and fundraising to help FAST cross the finish line.

Meet the Board: Ryan Jacob

FAST, the Foundation for Angelman Syndrome Therapeutics, is pleased to welcome Ryan Jacob as its newest board member. Ryan is the chief executive officer for CAE, a global software- and information-driven trading firm addressing the semiconductor market. Additionally, Ryan is a chairman of Jacob Family Holdings and serves as a director for numerous private companies. Prior to CAE, Ryan worked in venture capital and private equity at Summit Partners, Endeavour Capital and Celerity Partners. He’s a graduate of the University of California, Los Angeles. Throughout his career, Ryan has been focused on investing in and helping to grow private companies and conveying those beneficial practices to non-profit organizations.

Ryan has always been engaged in philanthropy, but it wasn’t until his son, Grayson, was diagnosed with Angelman syndrome that he discovered FAST. In 2020, Grayson was diagnosed with Angelman syndrome. From that moment, Ryan made curing Angelman syndrome and improving the lives of children and adults with genetic diseases and intellectual and physical disabilities his primary philanthropic focus.

“Just like anyone, I’ve faced what has felt like insurmountable challenges in my lifetime,” said Ryan. “I’ve always said that you have to find a way to overcome each challenge, no matter what it takes. For me, I couldn’t sit back and accept this outcome for my child and any child or adult living with Angelman syndrome.

“Joining the FAST Board of Directors channels my mission to overcome Angelman syndrome for my family and the other families with loved ones living with Angelman syndrome. In my lifetime, upon my final analysis of my life, I want to know that I’ve done everything possible – physically, financially and intellectually – to cure Angelman syndrome. The FAST board is directed by parent volunteers, each working tirelessly and as an integrated team, to cure this disorder. I am excited and prepared to give everything I can to cure Angelman syndrome and I have no doubt that we will.”

Ryan lives in Austin, Texas, with his wife Annie, and their three children. In addition to FAST, Ryan and Annie are dedicated to serving as board members for local foundations and organizations, including the Arc of the Capital Area and Friends of the Children. Please join FAST in welcoming Ryan to the Board of Directors.

FAST is directed by an unpaid, all-volunteer board, consisting solely of parents of individuals living with Angelman syndrome. Each board member is dedicated to curing Angelman syndrome through funding a robust and aggressive research agenda. FAST’s research initiatives are focused at identifying potentially transformative therapeutics to address the symptoms of AS.

FAST is committed to assisting all individuals living with Angelman syndrome, regardless of age or genotype, to realize their full potential and quality of life through effective therapeutics. FAST operates as an impartial organization to drive collaboration and sharing across the industry, including pharmaceutical companies, research institutions, and other organizations globally. FAST is served by two boards: the board of directors and an independent scientific advisory board; in addition, FAST collaborates with numerous experts that serve as advisors. Together, FAST is working hard to bring practical treatments into current medical practice as quickly and safely as possible.

To learn more about FAST, please visit cureangelman.org. Consider contributing to FAST by making a financial gift, spreading the word with friends and family members, and fundraising to help FAST cross the finish line.

Angelman Syndrome Infrastructure Grant Update

From Dr. David Segal, Dr. Jill Silverman, and Dr. Kyle Fink at UC Davis

Having rebounded from the limiting conditions of COVID-19 restrictions, the Infrastructure Team is hard at work for the Angelman syndrome (AS) community. We have been busy building a lab that is devoted to Angelman syndrome research, establishing an infrastructure in which our group can evaluate multiple therapeutics simultaneously. The four key areas that we have been working on are:

Area 1) Antisense Oligonucleotides (ASO): Our top priority is testing rat specific ASOs in our AS rat model to understand the molecular biology that underlies effects observed in clinical trials. This information could help inform near term clinical trials as well as test our translation research endpoints.

Area 2) Known Compounds: A major area of focus is evaluating drugs that have shown some utility for Angelman syndrome in the scientific literature. We are currently performing behavioral pharmacology on three novel compounds in the AS mouse.  We know that these compounds are safe and effective in other conditions, and if they are validated and well characterized, showing robust behavioral changes in AS models, they could be prioritized for clinical trials.

Area 3) Unknown Compounds: We are working with various pharmaceutical companies to robustly screen and evaluate their proprietary compound libraries/therapeutic targets. Our aim is to de-risk new potential therapeutics for efficacy in Angelman syndrome. We are screening 2-3 libraries of compounds in fluorescent reporter neurons. In this way, we capture compounds previously identified for particular targets (Area 2) as well as completely new compounds that we don’t yet know to be useful.

 Area 4) Biomarkers: We are starting new experiments to look for biomarkers that might provide molecular clues to response to treatments. We have prioritized 24 candidate proteins to be assessed in multiple brain regions, cerebral spinal fluid (CSF), and plasma in multiple rodent models of AS that are currently being maintained at UC Davis through the infrastructure effort. These candidates will also be assessed in individuals with AS, in collaboration with Dr. Jessica Duis, using plasma and the existing biobank of samples in her lab. This effort leverages our unique tools and animal models with the knowledge and assistance of the broader scientific AS community.

We will continue to provide updates on a regular basis! 

“As you can see, we are hard at work trying to understand how these drugs can affect the course of Angelman syndrome. We are grateful to FAST for giving us the opportunity to bring the impressive capabilities at UC Davis to serve our Angelman community”

Dr. Segal.

FAST Welcomes New Members to the Advisory Team

The FAST Advisory Council provides additional support to the mission through scientific writing, participation in endpoint development and many additional areas of translational research

Downers Grove, Ill. (March 24, 2021) — FAST, the Foundation for Angelman Syndrome Therapeutics, announces new members to the FAST Advisory Council. The FAST Advisory Council (FAC) is a collaborative group of volunteers, each personally touched by Angelman syndrome, that contribute to the overall mission of FAST by bringing their expertise in science and medicine to help support various different initiatives of the organization. FAST is pleased to welcome the following individuals to the FAC:

  • Dr. Jim Daley is a Research Assistant Professor at the University of Texas Health Science Center, San Antonio. He attended the University of Michigan for his Ph.D. in Cellular and Molecular Biology, and performed postdoctoral work at the University of Montreal and Yale University. He studies DNA damage, genome instability and cancer. Dr. Daley has a younger sister, Jennie, with Angelman syndrome.  
  • Dr. Joe D’Orazio is an Assistant Professor of Emergency Medicine at the Lewis Katz School of Medicine at Temple University. Dr. D’Orazio serves as a medical toxicology consultant for the Poison Control Center at the Children’s Hospital of Philadelphia. He brings extensive experience in emergency medicine, medical toxicology, addiction medicine and has been involved in various clinical trials. His son, Gabriel, has Angelman syndrome.
  • Dr. Terry Jo V. Bichell has a Ph.D. in Neuroscience. She is the founder and director of COMBINEDBrain, which is devoted to speeding the path to clinical treatments for people with severe rare genetic non-verbal neurodevelopmental disorders. While working as a documentary filmmaker, Dr. Bichell’s youngest child, Lou, was diagnosed with Angelman syndrome. She quickly switched focus to help move bench science into the first clinical trials for Angelman syndrome. Dr. Bichell is a highly-published, experienced researcher with a history of working in neuroscience and women’s health.
  • Dr. Derek Matheson is the director of hospitalists at Jane Phillips Medical Center. He’s a graduate of Oklahoma State University College of Osteopathic Medicine and has over two decades of internal medicine experience. Dr. Matheson’s youngest child, Remi, was diagnosed with Angelman syndrome in June 2018.

Drs. Jim Daley, Joe D’Orazio, Terry Jo V. Bichell and Derek Matheson are familiar faces to the Angelman community – each of them have loved ones living with Angelman syndrome. The FAC volunteers their time to support the day-to-day of FAST through scientific writing, participation in endpoint development and assisting with new research programs. The FAC is designed to provide additional support to the Angelman syndrome community through communication and scientific writing, while furnishing additional resources for FAST’s translational research agenda.

“The role of the FAST Advisory Council is to further champion the overall mission of FAST, providing additional expertise in many important areas,” said John Schlueter, chairperson for the FAST Board of Directors. “We continue to work tirelessly to bring effective therapeutics to our loved ones with Angelman syndrome. The Advisory Council’s medical and scientific experience continue to support our amazing community through their efforts in some of our research initiatives. The advancements in Angelman syndrome, as well as FAST’s mission, would not be possible without the continued support of our community members.”

Dr. Allyson Berent, chief science officer for the FAST Board of Directors adds, “This incredible team of clinicians and researchers, being intimately touched by loved ones with Angelman syndrome, are an amazing addition to the FAST team. The FAST Advisory Council works to translate FAST’s research initiatives to our community through scientific writing and committee participation. Combining the expertise and collaboration of the brightest minds from a variety of fields in science and research continues to push us closer to reaching our goal. We are thrilled to welcome new members to the Advisory Council to help support the mission of FAST.”

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 currently no 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, mother of a girl with Angelman syndrome, founded FAST in 2008. In 2017, FAST formed GeneTx Biotherapeutics to develop GTX-102, and antisense oligonucleotide, for human clinical trials. More information can be found at www.CureAngelman.org.

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Community statement from Ionis

 Dear Angelman Syndrome Community, 

We are writing this letter to share with you an update on our progress towards initiating our clinical trial in people living with Angelman syndrome. Last year was incredibly difficult on so many levels, and while 2021 will continue to have its challenges, we remain hopeful that our lives will begin to return to normal, and that there will be many great advancements towards a treatment for those living Angelman syndrome in the year ahead. 

As we announced in December 2020, we anticipate starting our clinical trial in the latter half of 2021, and we remain on track to meet that goal. We are completing the necessary preclinical studies with our lead compound and we are confident that we have selected best compound to take forward as a potential treatment for the broadest Angelman syndrome population. We have also begun preparing for the operational activities to launch our clinical trial. Some of those activities include discussions with local regulatory authorities in the US and other countries, site identification, as well as the development of Angelman syndrome specific tools, to create optimal opportunities to capture and measure potential participant changes that may be seen in the clinical trial. 

We are on track to initiate the global Phase 1-2a study later this year. The study will enroll up to 50 participants, and it will include a broad age range from young kids to adults. The primary goal of this first study is to determine the safety and tolerability of our drug. The study will include several clinical assessments completed at the clinic visits, as well as questionnaires that the parents or caregivers will complete at home. 

We understand that it’s vitally important to communicate often with the community and we are committed to providing regular updates on our progress. Our goal is to keep you informed on the clinical trial process, the activities related to the study start up, and the expected timelines. 

We are very grateful to all families who volunteer to take part in research and drug development efforts. Only with your support can we advance potential therapies towards clinical trials. We look forward to continuing our remarkable partnership with the community as we advance towards a treatment for Angelman syndrome. 

Sincerely,
Ionis Angelman Syndrome Team

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