ASF Honors Award Winners
05 Aug

ASF Honors Award Winners at the 2019 ASF Conference

At the 2019 ASF Scientific Symposium and Family Conference in Louisville, KY, the Angelman Syndrome Foundation recognized four people with special awards at the Family Conference Welcome Reception.  The board and staff of the Angelman Syndrome Foundation, as well as the entire community of families, teachers and scientists are grateful to these four individuals for their dedication and hard work. 

 

Harry & Audrey Angelman Award for Meritorious Service

Awarded to: Erin Sheldon

Erin Sheldon

Erin Sheldon has dedicated her life to supporting families on their communication journey. She is first and foremost a mother to Maggie. She is an advocate for inclusive schools and communities. She earned her Masters in Education studying the learning needs of students with complex disabilities. Erin has spend many years helping the Angelman Syndrome Foundation support families in their communication journey.  The Harry & Audrey Angelman Award for Meritorious Service is given to an individuals who has demonstrated a strong commitment to enhancing the awareness and understanding of Angelman Syndrome in their community. Erin lives this every day by working hard to be an advocate of children and adults with Angelman syndrome, as well as dedicating her life’s work to helping them find their voice!

 

The Dr. Claudia Benton Award for Scientific Research

Awarded to: Dr. Stormy Chamberlain

Stormy Chamberlain

Dr. Claudia Benton was passionate about the Angelman syndrome community. She had completed her pediatric neurology fellowship with Dr. Zoghbi and was in the process of her genetics fellowship with Dr. Beaudet when she died in 1998.  She was a wonderful, kind, and very dedicated person who loved the kids with Angelman syndrome that she worked with. The Claudia Benton award winner demonstrates a strong commitment to advancing the scientific knowledge as it pertains to Angelman Syndrome.  As well as an ongoing commitment to research that improves the understanding or treatment of Angelman Syndrome.  There is no one who is more deserving of this award than this year’s winner, Stormy Chamberlin.  Stormy Chamberlain is a widely published, 10-year researcher in the field of Angelman syndrome and UBE3A, who has given more than 30 talks and lectures about a variety of related topics. Dr. Chamberlain established her own lab at UConn in 2009, using induced pluripotent stem cells (iPSC) to model and study human imprinting disorders, focusing on Angelman syndrome, Prader-Willi syndrome, and Duplication 15q syndrome. She serves on the ASF Board of Directors as well as the Chair for the Scientific Advisory Committee.

“We are so thankful to Stormy for the dedication she displays for our children on a daily basis.  Knowing that they’re are individuals out there like Stormy working hard towards a cure for our kids is just the hope we need.”  Quote from a parent.

 

Lifetime Achievement Award

Awarded to: Eileen Braun

Eileen Braun

Eileen Braun served as the Executive Director of the ASF from 2004 until April 2019. Prior to that, Eileen worked as the special event coordinator for ASF 2001-2003, following her volunteer involvement from 1999-2001.

Some highlights from Eileen’s tenure as Executive Director:

  • Started the ASF Walk which, to date, has raised over $16M for research, family support, education and advocacy.
  • Prior to her tenure as Executive Director, ASF had invested a total of $275,000 on research. Since that time ASF has funded over $10M in research comprising over 100 individual projects, 61 different researchers, 40 different scientific institutions, and 7 different countries. Additionally, ASF spent about $6,000 in family support the year she took the reins and now ASF spends over $500,000 annually in support of the Angelman community.
  • In 2010 Eileen organized the first AS research road map designed to lay out the plan to organize research investment that would impact the clinical care of individuals with AS and, eventually, lead to a cure.
  • ASF developed and maintains the single largest AS registry in the world, including over 4,000 individuals with AS from all 50 states and over 80 countries around the world.
  • ASF developed a network of 8 US based clinics and 4 international clinics that specialize in the treatment for individuals with AS and are not serving as the hub for clinical research for AS related treatments.
  • During Eileen’s tenure, the ASF developed the ASF Resource Team, Communication Training Series, and the AS Behavioral Training Series.
  • ASF has hosted 8 family conferences and 11 scientific symposia.

Eileen dedicated her professional career to the cause of Angelman syndrome and there is nothing in the community without her fingerprints on it. Eileen was awarded the last ASF Lifetime Achievement Award and, the Board announced the creation of the Eileen Braun Lifetime Achievement Award.

 

Eileen Braun Lifetime Achievement Award

Awarded to: Dr. Art Beaudet

Dr. Arthur Beaudet

Dr. Beaudet received his M.D. from Yale, did pediatric residency at Johns Hopkins, and was a research associate at the National Institute of Health before joining Baylor College of Medicine (BCM) in 1971.  He is a well-known editor of the Metabolic and Molecular Bases of Inherited Disease textbook for the 6th through 8th editions; has served on many editorial boards and national review panels. He was President of the American Society of Human Genetics in 1998 and was elected to the National Academy of Medicine in 1995 and to the National Academy of Sciences in 2011.

Dr. Beaudet has made diverse contributions in the field of mammalian genetics including discovery of uniparental disomy in humans, identifying the Angelman syndrome gene, and publishing over 300 original research articles. Additionally, related to Angelman syndrome, his lab and another group identified UBE3A as the Angelman gene in 1997, and in 2015, his lab in collaboration with Ionis showed that oligonucleotides could be used to activate the paternal copy of the Angelman gene in mice, possibly opening a path towards treatment of AS.

Dr. Beaudet is currently the Henry and Emma Meyer Distinguished Service Professor in the Department of Molecular and Human Genetics at BCM and Texas Children’s Hospital in Houston.

 

 

Dr. Elizabeth Jalazo Named as Director of Clinical Integration
12 Jun

Angelman Syndrome Foundation (ASF) Creates New Director of Clinical Integration Position for their Expanding Clinical Network that Offers Comprehensive Care and Treatment for those with Angelman Syndrome (AS)

 

The Angelman Syndrome Foundation (ASF) has announced that Dr. Elizabeth Jalazo, a pediatrician at the University of North Carolina in Chapel Hill, will take on the new position of Director of Clinical Integration for the ASF.

In her role as the Director of Clinical Integration, Dr. Jalazo will oversee ASF’s Clinic Network which currently includes eight domestic and four international clinics. In this role, she will work with our current ASF Clinic Networks to ensure excellence as well recruiting new clinics to serve individuals with Angelman Syndrome.  Dr. Jalazo will also work to increase resources to accelerate the discovery and development of effective therapeutics that can prevent or reduce the core symptoms of Angelman Syndrome (AS). Primary efforts will target medical research, with a strong focus on neurological, psychopharamacological and clinical trials research. In her role as Director of Clinical Integration, Dr. Jalazo will also serve as the ASF spokesperson in responding to the needs of the organization and community regarding medical concerns, inquiries, and policies. In this capacity, Dr. Jalazo will act as a primary liaison between ASF and medical professional organizations working with children and adults with AS, and their families.

Amanda Moore, CEO of ASF, states, “We are thrilled that Dr. Jalazo is filling this new and vital position at the ASF.  Because of her unique background, and due to her own experience of having a child with AS, Dr. Jalazo is also able to support the ASF in advocacy efforts as they relate to the AS community.  She has provided expert testimony to the US Congressional Rare Disease Caucus about the importance of ending the diagnostic odyssey and ensuring access to appropriate genetic testing for children and families. Additionally, Dr. Jalazo has spoken at the FDA about the importance of newborn screening and the impact of timely diagnosis in rare disease. She is working closely with legislative advocates on Capitol Hill to ensure the needs of our community are being heard.”

Dr. Jalazo is a pediatrician at the University of North Carolina in Chapel Hill. She received her Bachelor of Science from UNC Chapel Hill and her Doctor of Medicine (MD) from Wake Forest University. She completed her pediatric residency at Johns Hopkins Hospital in Baltimore, MD. Following a research fellowship in academic pediatrics, Dr. Jalazo also served as the pediatric Chief Resident at Johns Hopkins. She practiced in the DC area caring for children with complex healthcare needs prior to moving back home to North Carolina with her family. She lives in Chapel Hill, NC with her husband and three children. Her middle daughter, Evelyn has Angelman Syndrome. She is currently a fellow at UNC in the Division of Medical Genetics and Genomic Medicine.

In welcoming Dr. Jalazo to the new ASF position, Moore says, “Besides her vast experience and clinical understanding of AS, Dr. Jalazo has a deep passion for caring for children with special healthcare needs. She has served on the Board of the Angelman Syndrome Foundation since 2017 and is excited, as we are, to serve the community in this new role moving forward.”

ASF Funded Research finds Critical Role of UBE3A
30 May

Role of UBE3A in the Developing Brain

Your ASF donations hard at work at UNC and Erasmus Medical Center in the Netherlands. This pivotal study demonstrated that UBE3A is most critical in the developing brain and plays a less vital role later on in life.

This is important in designing clinical trials and knowing when is the best time to treat. But what does this mean for our loved ones? “This means that while developing a therapy that permanently reinstates UBE3A might be optimal, even a treatment that gives back UBE3A during critical periods of brain development could be truly transformative!” – Ben Philpot, PhD University of North Carolina at Chapel Hill

See the article in Molecular Autism.

ASF AS Clinic at UNC Chapel Hill Studies Anxiety
30 May

Anxiety in Angelman Syndrome

Important work coming out of the ASF Clinic Network at the University of North Carolina at Chapel Hill. Did you know that anxiety concerns are reported in 40% of people with AS? Characterizing that anxiety is critically important to design tools that can tell us if therapeutics are working!

Read the published paper. 

Thank you to all of our families who visit the clinics and make this research possible! And thank you to all of those generous donations that make our clinics possible. 

Roche, Biogen and Ionis Announce Collaborative Research Partnership
20 May

Roche, Biogen and Ionis logos

See the following announcement from May 16, 2019.

Also, see a Q&A on this collaboration for more details.  

 

Dear Angelman Syndrome Community,

We, Roche, Biogen and Ionis, are amongst several companies working towards finding potential treatments for Angelman Syndrome (AS). While Roche and the Biogen/Ionis team have two independent research programs, we all share the common goal of bringing potential new therapies for AS into clinical trials in the future. Improving the understanding of AS is a very important step in the drug development process, and AS families are at the center of our efforts. We are writing this letter to share with you an update on some of our current work in AS.

Today, we announce our collaborative research partnership on two new studies that will improve the understanding of AS and guide the design of future drug studies:

One study is called the AS CSF and Biomarker Study and is led by Biogen. The aim is to find potential biomarkers, biological signs of disease, that can be measured in CSF (cerebrospinal fluid, which is the fluid around the brain and spinal cord). These biomarkers could then be used to check if a drug has an effect on AS.

The other study is called the AS Endpoint Study, and is led by Roche. The aim is to find ways to measure disease impact in the home and clinic, and use new technologies to learn about AS. These measurements (endpoints) and technologies focus on areas such as sleep, communication and brain activity.

These two studies do not involve any drug. Their purpose is to help design possible drug trials for AS in the future. The specific goals of these studies have not been covered before by other observational studies in AS. These studies are expected to start in the second half of 2019. More information will be available on ClinicalTrials.gov when the first sites are opened. We will let you know as soon as this information is available. 

Families will be able to join one or both of these studies, and they can also be part of other non-drug studies such as the FDA funded Natural History Study at the same time. As you may already know, gathering natural history data in Angelman Syndrome patients is a critical component to understanding the disease. To design the best clinical study for a treatment, we need to better understand the disease progression in the absence of a treatment. Taking part in non-drug studies typically does not prevent someone from taking part in any studies involving an investigational drug in the future, as long as the individual matches the inclusion criteria for a future drug study.

Our companies are working together on these two new studies, in collaboration with researchers and families in the Angelman community, so that important scientific information on AS is collected and shared. In parallel to these non-drug studies, our companies continue to independently research potential drug candidates for future clinical studies.

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 enhancing our partnership with the community by providing regular updates on the status of these studies and our independent programs.

Sincerely,
The Roche, Biogen and Ionis Teams

Dr. Harry Angelman Honored on International Angelman Day
15 Feb

Angelman Syndrome Foundation Honors Dr. Harry Angelman With International Angelman Day Celebration

 

ASF partners with AS father and advocate to celebrate global strides in Angelman syndrome research, patient care

AURORA, Ill. (Feb. 15, 2019) – Today, in celebration of International Angelman Day on Feb. 15, the Angelman Syndrome Foundation (ASF) partnered with Angelman syndrome (AS) advocate and father Peter Patterson to honor Dr. Harry Angelman, the British pediatrician who first identified Angelman syndrome. More than 50 years after Dr. Angelman’s discovery of this rare neurogenetic disorder, a plaque commemorating the global impact of his accomplishments was unveiled at Gosport Memorial Hospital in the United Kingdom today.

Plaque honoring Dr. Harry Angelman

The plaque installed at The War Memorial Hospital in Gosport (UK) when Harry Angleman retired too and passed away in 1996.

Patterson, who lost his son to Angelman syndrome in 2003, campaigned for years to have Dr. Angelman’s achievements recognized in the U.K. Thanks to his dedication, the plaque now rests where Dr. Angelman passed, minutes from where he retired in Lee-on-the-Solent.

In recognizing Dr. Angelman’s work, ceremony attendees also reflected on how far the global research community has come since his discovery, as well as the now global accessibility of ASF Angelman Syndrome Clinics (AS Clinics), founded by the ASF to provide the specific treatments that are desperately needed by people with AS of all ages.

“Dr. Angelman spent his life committed to helping those with Angelman syndrome, and we continue to honor his legacy by advancing patient care through the ASF AS Clinics,” says Eileen Braun, executive director of the Angelman Syndrome Foundation and mother to a young woman with AS. “After decades of ASF-funded research spanning the globe, we are so much closer to a cure. We are proud to continue his legacy by working hard every day to support families and fund important research aimed at finding treatments and ultimately a cure for AS.” 

Since 1996, the ASF has funded more than $10 million in research studying AS, the root cause of the disorder, potential therapeutics, and ultimately a cure. Of that, more than $2 million has funded researchers outside the U.S., including those in Australia, Canada, Israel, Japan, The Netherlands, and the U.K.

Most recently, the ASF, along with global partners, funded groundbreaking research to support the world’s largest newborn screening study for four rare genetic disorders, including AS. This pilot study, currently underway by Associate Professor David Godler from the Murdoch Children’s Research Institute in Melbourne, Australia, will validate the screening tool on a large-scale—ultimately leading to earlier and more accurate diagnosis, allowing therapies to be implemented at a much younger age. 

“If we could have newborn screening for Angelman syndrome, it would help families by eliminating the diagnostic odyssey and having therapies available right from the beginning,” says Dr. Jessica Duis, MD, MS, Director of the Comprehensive Angelman Syndrome and Prader-Willi Clinics at Vanderbilt University Medical Center. “We know that if we implement these therapies early, that we will change the course of these disorders as we know them today.”

For Patterson, having an early diagnosis of AS for his son, Anthony, would have been life-changing. His family struggled for years without knowing what was wrong with their son, dealing with confusion and stress while battling the host of health challenges that come with AS.

“Dr. Angelman identified my son’s health issues,” said Patterson. “With his diagnosis, it was comforting to know what was wrong. I want his work to be recognized in hopes of supporting more families who are struggling with Angelman syndrome around the world.”

Clinical Trial of OV101 in Pediatric Patients
06 Dec

On December 6, 2018, Ovid Therapeutics announced plans to move ahead with a single, pivotal Phase 3 trial of once-daily dosing of OV101 in pediatric patients with Angelman syndrome. This is based on its End-of-Phase 2 Meeting with the U.S. Food and Drug Administration (FDA). If successful, the Phase 3 efficacy and safety trial is intended to support a New Drug Application (NDA) for OV101 in AS.

 

Read the full announcement from Ovid Therapeutics.

Angelman Syndrome Foundation Expands Clinic Network Internationally
06 Dec

Comprehensive Clinics Provide Unique Support for Individuals with Angelman Syndrome in Canada and Israel

AURORA, Ill. (December 6, 2018) – The Angelman Syndrome Foundation (ASF) expands its Angelman Syndrome Clinic Network through collaboration with international partners: The Children’s Hospital of Eastern Ontario in Ottawa, Canada, and the Edmond and Lily Safra Children’s Hospital of the Sheba Medical Center near Tel Aviv, Israel. With the addition of these clinics, the ASF Angelman Syndrome Clinic Network has grown to 10 locations globally, including eight locations across the U.S.

The ASF Angelman Syndrome Clinic Network is the first and only resource of its kind for individuals with Angelman syndrome (AS) and their families. Founded by the ASF, it leverages partnerships with leading medical and research institutions to provide individuals with AS the comprehensive care they need from infancy through adulthood.

As part of the commitment to improving the lives of patients and families living with AS, the medical teams of the ASF AS Clinic Network also participate in the latest clinical research protocols and trials. And, the ASF AS Clinic Network is currently developing the first standards of care in AS.

“The ASF AS Clinics provide vital, life-changing – and often life-saving – care for our children of all ages. No other resource like this exists for AS families, so to broaden the network internationally is critical for families around the world,” said Eileen Braun, executive director of the Angelman Syndrome Foundation and mother to a young woman with AS. “The ASF AS Clinics also provide a pivotal platform for clinical research sites with experienced clinicians. The knowledge base and clinical data provided by the ASF AS Clinic Network is imperative to move research forward, from study design to implementation through clinical trials.”

The purpose of the ASF AS Clinic Network is to reduce the frequency and severity of AS symptoms that interfere with function, such as seizures, behavior and sleep problems. In addition, the clinics work with families to develop educational recommendations to optimize educational programming for individuals with AS, thus helping these individuals achieve their full developmental potential. 

“Partnering with ASF to become part of the global AS Clinic Network has created incredible collaboration and information sharing,” said Jane Summers, PhD, Psychologist, and Dr. Erick Sell, MD, Pediatric Neurologist, co-founders of the ASF AS Clinic at the Children’s Hospital of Eastern Ontario. “This has helped us tremendously to provide the exceptional, expert care for our patients with Angelman syndrome that we are committed to delivering.”

With the ultimate goal of improving quality of life for individuals with AS and their families, the ASF AS Clinic Network provides comprehensive access to experts who specialize in AS. These AS experts include neurologists, epileptologists, developmental-behavioral pediatricians, psychologists, sleep medicine physicians, rehabilitation medicine specialists, gastroenterologists, pulmonologists, speech language pathologists, physical/occupational therapists, genetic counselors, social workers and nutritionists.

“Knowledge and experience sharing are highly important, especially in the field of rare disorders such as Angelman syndrome,” said Dr. Gali Heimer, MD, PhD, Pediatric Neurologist and the Head of the Safra Children’s Hospital Israeli Angelman Syndrome Clinic. “We are honored to join the global ASF AS Clinic Network. I am certain that this collaboration will contribute significantly to the quality of care that AS patients receive worldwide, and it will also aid and facilitate AS-related clinical trials and the search for specific novel therapeutics for this disorder.”

The Safra Children’s Hospital Israeli Angelman Syndrome Clinic within the Sheba Medical Center in Tel Hashomer, near Tel Aviv Israel, was established in partnership and operates in full cooperation with the Israeli AS Foundation.

“Ever since the Israeli AS Foundation was established, we have set it as one of our major targets to cooperate, share information and knowledge, and be as in sync as possible with AS parents’ organizations, physicians and researchers worldwide,” said Eitan Shay, CEO of the Israeli AS Foundation and father to an 8-year-old girl with AS. “We are proud and honored that our long-term and warm relationship with the ASF has led to this highly important step of the Safra Children’s Hospital Israeli AS Clinic joining the ASF AS Clinic Network.”

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ABOUT ANGELMAN SYNDROME (AS)

Occurring in one in 15,000 live births, Angelman syndrome is a neurogenetic disorder often misdiagnosed as autism or cerebral palsy – that causes severe neurological impairment, appears in newborns and lasts for a lifetime. During fetal development, the loss of function of a particular gene in the brain occurs, resulting in neurons functioning improperly and causing deficits in development. Individuals with AS experience developmental delay, lack of speech, seizures, walking and balance disorders, and typically exhibit a happy demeanor characterized by frequent smiling, laughter and excitability.

ABOUT THE ANGELMAN SYNDROME FOUNDATION (ASF)

The Angelman Syndrome Foundation’s mission is to advance the awareness and treatment of AS through education and information, research, and support for individuals with AS, their families and other concerned parties. The ASF sponsors AS research through grants to researchers pursuing treatments and a cure for AS. Since 1996, the ASF has funded 101 research grants totaling more than $9.5 million. The ASF has awarded a majority of these funds ($9.2 million) beginning in 2005.

ABOUT CHEO

Dedicated to the best life for every child and youth, CHEO is a global leader in pediatric health care and research. Based in Ottawa, CHEO includes a hospital, children’s treatment center, school and research institute, with satellite services located throughout Eastern Ontario. CHEO provides excellence in complex pediatric care, research and education. We are committed to partnering with families and the community to provide exceptional care — where, when and how it’s needed. CHEO is a founding member of Kids Health Alliance, a network of partners working to create a high quality, standardized and coordinated approach to pediatric health care that is centered around children, youth and their families. Every year, CHEO helps more than 500,000 children and youth from Eastern Ontario, western Quebec, Nunavut and Northern Ontario.  

ABOUT THE SAFRA CHILDERN’S HOSPITAL 

The Edmond and Lily Safra Children’s Hospital of the Sheba Medical Center is a university-affiliated tertiary referral center located near Tel Aviv, Israel. It is renowned for its compassionate care and cutting-edge medicine, state-of-the-art facilities and dedication for advancing research of pediatric disorders. It specializes, among other things, in the care and research of rare disorders and holds the national clinics of many of those such as Rett, Ataxia Telangiectasia, Tuberous Sclerosis, Fragile X and of course, Angelman Syndrome. As part of the hospital’s vision of providing holistic care to patients and their families, the rare disorders clinics provide multidisciplinary expert services scheduled all for the same day and a continuity of care into adulthood. The Safra Children’s Hospital offers its expert services not only to patients from all across the country, but also the Palestinian Authority, and the Mediterranean and Near East regions.

 

MEDIA CONTACT

Allison Dukes, Dalton Agency
Mobile: (608) 616-2713
Email: adukes@daltonagency.com

 

Newborn Screening Study for Rare Disorders
22 Nov

World’s Largest Newborn Screening Study for Angelman, Prader-Willi, Fragile X and Dup15q Syndromes Launches

Nonprofits co-fund feasibility study to test screening tool for 75,000 newborns for Angelman, Prader-Willi, Fragile X and Dup15q Syndromes

AURORA, Ill., and WALNUT, Calif. (November 8, 2018) – The Angelman Syndrome Foundation and the Foundation for Prader-Willi Research announce funding to support the world’s largest newborn screening study for four rare genetic disorders: Angelman, Prader-Willi, Fragile X and Dup15q syndromes. The Victorian Medical Research Acceleration Fund this year also contributed $100,000 toward the project.

In a pilot study, Associate Professor David Godler from the Murdoch Children’s Research Institute in Melbourne, Australia, will screen 75,000 newborns, establishing the feasibility of the test for large-scale screening.

“Newborn screening means families with loved ones with Angelman, Prader-Willi, Fragile X and Dup15q syndromes find a diagnosis in weeks instead of years, avoiding a painful diagnostic journey. And, if we can diagnose individuals earlier, we have the best chance of reversing the effects and improving their quality of life much sooner,” says Eileen Braun, Executive Director of the Angelman Syndrome Foundation and mother to a young woman with Angelman syndrome (AS). “Research, including studies funded by the ASF, is moving quickly toward therapeutics and a cure for AS, and experts are now pinpointing the optimal window for applying a cure. The sooner we can diagnose, the sooner we can apply life-changing treatments.”

“Having a cost-effective test to accurately diagnose these syndromes in the newborn period is key to ensuring that families receive optimal medical care and support,” adds Theresa Strong, Director of Research Programs for FPWR. “The study will validate the newborn screening tool so that, once approved for use, it can be used to screen all babies in the newborn period.”

“This would allow individuals to have standard-of-care therapies right from the beginning,” says Dr. Jessica Duis, MD, MS, Director of the Comprehensive Angelman Syndrome and Prader-Willi Clinics at Vanderbilt University Medical Center. “For example, for Prader-Willi Syndrome (PWS), this means growth hormones and early intervention therapies that we know from experience have huge benefits.”

When available, life-changing therapeutics and a cure for AS could be implemented within the first weeks of life.

Current rates of incidence of PWS and AS vary widely from 1:12,000 and 1:30,000 live births. The study will also help understand the true incidence and full spectrum of these disorders in the population. 

“I believe the prevalence of these disorders is underestimated, because all tests used to diagnose these conditions were developed more than 10 years ago and are not as sensitive,” says A/Prof. Godler.

AS in particular is often not diagnosed until individuals are between one to three years of age and delays are noted, significantly delaying therapies and creating stress and hardship for families.

The study was inspired by A/Prof. Godler’s previous work to develop a test called MS-QMA, which can accurately diagnose Fragile X syndrome, a common genetic disorder linked to autism spectrum disorder. With additional funding, he found the test could also be used to screen for PWS, AS and Dup15q.

“My dream is to one day have our tests included in newborn screenings around the world,” says A/Prof Godler. “That means the families with babies with these conditions get the support and care they need from day one.”

A/Prof Godler is also a member of the Paediatrics Department of the University of Melbourne.

A/Prof Godler’s Fragile X test is being trialed on samples of 100,000 babies, thanks to an earlier $800,000 Australian National Medical Research Council grant and a $500,000 Australian Federal Government’s Medical Research Future Fund fellowship awarded in 2015 and 2018, respectively.

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About the Angelman Syndrome Foundation (ASF)

The Angelman Syndrome Foundation’s mission is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. The ASF sponsors Angelman syndrome research through grants to researchers pursuing treatments and a cure for Angelman syndrome. Since 1996, the ASF has funded 101 research grants totaling more than $9.5 million. The ASF has awarded a majority of these funds ($9.2 million) beginning in 2005. 

About Prader-Willi syndrome (PWS)
Prader-Willi syndrome
is a rare, genetic disorder affecting approximately 1 in 15,000 people. PWS is a complex condition that impacts nearly every system in the body. The hallmark symptom of PWS is hyperphagia, an unrelenting appetite and extreme hunger. A person with PWS never feels full.  There are currently no effective treatments to regulate appetite in PWS and individuals with PWS require a highly restricted environment to prevent life-threatening overeating and obesity.  Additional associated problems include growth hormone deficiency, behavioral challenges, intellectual disability, anxiety, sleep disturbances, and scoliosis. For many individuals with PWS, the elimination of hyperphagia would represent a critical advance, bringing new possibilities for an independent life.

About Foundation for Prader-Willi Research (FPWR)
FPWR is composed of thousands of parents, family members, researchers, and others who are interested in addressing the many issues related to PWS, including childhood obesity, developmental delays, psychiatric disorders, and autism spectrum disorders. The mission of FPWR is to eliminate the challenges of Prader-Willi syndrome through the advancement of research and therapeutic development. FPWR supports cutting edge research studies around the world to advance the understanding of PWS, and collaborates with research institutions, pharmaceutical companies and the FDA to advance new treatments that will help those with PWS.  To date, FPWR has funded over $10 million in PWS research. For more information please visit https://www.fpwr.org/.

25 Oct

Additional Data and Analyses from the Phase 2 STARS Clinical Trial with OV101

Ovid Therapeutics Presents Additional Data and Analyses from the Phase 2
STARS Clinical Trial with OV101 for the Treatment of Angelman Syndrome at the
65th AACAP Annual Meeting

— Additional data and analyses suggest that in the OV101 15 mg once-daily dose group, changes in sleep parameters and motor domains contributed to the statistically significant improvement in overall clinical global symptoms (CGI-I) observed in previously announced topline data —

— Conference call and webcast today at 10:30 a.m. EDT during 65th American Academy of Child and Adolescent Psychiatry Annual Meeting —

SEATTLE, Oct. 25, 2018 (GLOBE NEWSWIRE) — Ovid Therapeutics Inc. (NASDAQ: OVID), a biopharmaceutical company committed to developing medicines that transform the lives of people with rare neurological diseases, today announced additional exploratory efficacy data and analyses from the company’s Phase 2 STARS trial that further support the potential of OV101, a novel selective extrasynaptic GABAA receptor agonist that is being investigated to treat Angelman syndrome. Angelman syndrome is a life-long genetic disorder that is characterized by a variety of signs and symptoms, and for which there are no FDA-approved medicines or an established treatment paradigm.

The additional efficacy data and analyses are being presented in a poster today at the American Academy of Child and Adolescent Psychiatry (AACAP) annual meeting by Alex Kolevzon, M.D., professor of psychiatry and pediatrics at the Icahn School of Medicine at Mount Sinai. The additional data and analyses revealed changes in certain sleep parameters and motor domains in both adults and adolescents in the OV101 15 mg once-daily dose group as further described in the detailed STARS data summary below. Ovid believes these observed changes may have contributed to the statistically significant improvement observed in the clinician-rated clinical global impressions of improvement (CGI-I) symptoms overall in the 15 mg once-daily OV101 dose group compared to placebo after 12 weeks of treatment, as reported in the topline data from the STARS trial on August 6, 2018. CGI-I is a global measure commonly used in clinical trials that allows the clinician to capture improvement in a constellation of clinical symptoms.

“Angelman syndrome is an extremely complex disorder in which any given patient may present with a variety of symptoms with different degrees of severity,” said Dr. Kolevzon. “These additional data from the STARS trial are encouraging, particularly the efficacy signals observed across the domains of sleep and motor, which appear to have driven the overall improvements seen in CGI-I. There are no established tools or endpoints to measure a drug’s effect on signs and symptoms of Angelman syndrome, and the information gained from the Phase 2 STARS trial establishes the potential of OV101 to offer a clinically meaningful benefit specific to people living with Angelman syndrome.”

“STARS was informed by extensive collaboration with the Angelman community,” said Jeremy Levin, DPhil, MB, BChir, chairman and chief executive officer of Ovid Therapeutics. “The data presented today contribute to a greater understanding and appreciation of the outcomes observed after administration of OV101 on key clinical aspects of Angelman syndrome. These results, together with those reported in August 2018, will help inform our discussions with the FDA when we meet with them later this year.”

Topline Data Announced August 6, 2018

Primary endpoint: Safety and Tolerability 
The study met its primary endpoint of safety and tolerability given that the adverse events (AEs) with OV101 treatment were similar to placebo treatment, with the majority of AEs being mild. OV101 showed a favorable risk profile and was well tolerated through 12 weeks of treatment. The most common AEs reported in the trial were vomiting, somnolence, irritability, aggression, and pyrexia. Serious adverse events (SAEs) of seizure were reported in two patients with a previous history of  seizures: one patient in the once-daily (QD) dose experienced a seizure and that was deemed unrelated to study drug; one patient experienced a seizure in the twice-daily (BID) dose group and that was assessed as possibly related to study drug by the investigator.

Exploratory endpoints:
The STARS trial explored the clinical utility of OV101 on changes in CGI-I, behavior, sleep, and gross and fine motor ability. The study randomized 88 patients and analyses were performed on 87 patients (mean age=22.6), which includes all patients who enrolled in the study and received at least one dose of study drug.

Prespecified analysis outcome
Following 12 weeks of treatment, OV101 showed a statistically significant improvement in CGI-I symptoms overall compared to placebo in a responder analysis (p=0.0206, combined dose group, Fisher’s Exact Test) and in the 15 mg QD dose group (p=0.0006, mixed model repeated measures (MMRM) analysis1 ).

Remaining prespecified analyses were conducted across subsets in the domains of behavior [Aberrant Behavior Checklist (ABC-C), Anxiety, Depression and Mood Scale (ADAMS)], sleep (e-diary – caregiver reported sleep changes) and motor [Modified Performance Oriented Mobility Assessment–Gait tool (mPOMA- G)], and analyses of these endpoints did not show a statistically significant difference from placebo.

Comprehensive Data Presented Today at AACAP

Results from Additional Exploratory Endpoints and Further Analyses of Domains of Sleep, Motor, Behavior and Quality of Life

Overall, the results indicate that OV101 seems to positively impact several relevant clinical features of Angelman syndrome (global functioning, sleep, motor disruption) and therefore support further clinical development of OV101 in Angelman syndrome.

Sleep Domain
Change from Baseline in Sleep Efficacy at Week 12 (MMRM Analysis)

An actigraphy watch was used to assess sleep parameters including latency to sleep, mean daytime sleepiness and changes in sleep efficiency. Approximately 45 percent (n=39) of patients tolerated the device. The clinician-rated clinical impression of sleep domain was analyzed using MMRM, to assess overall sleep. Sleep as reported by caregiver diary showed no changes.

Latency to Sleep Onset:

  • Latency to sleep onset (LSO) is the duration of time it takes a person to transition from full wakefulness to sleep. Sleep dysfunction has been identified as clinically relevant in Angelman syndrome, and the observed reduction in LSO may therefore be indicative of target engagement.
  • LSO was improved in OV101 15 mg QD dose group compared with placebo (Diff=-25.7 minutes, p=0.0147).

Mean Daytime Sleepiness and Sleep Efficiency:

  • Reduction in mean total sleep time during day (~50 minutes) and increase in sleep efficiency (3.65%) were seen in OV101 15 mg QD dose group compared with placebo.

Overall Sleep:

  • An improvement in clinical impression of sleep domain at Week 12 was observed in the OV101 15mg QD group compared to placebo (Diff=-0.77, p=0.0141). The OV101 BID group did not separate from placebo (Diff= -0.45, p=0.1407).

Gross and Fine Motor Domain
Change from Baseline in Motor Efficacy at Week 12 (MMRM Analysis)

Bayley Scales of Infant and Toddler Development Third Edition (BSID-III) was used to assess changes of ≥3 points from baseline (posthoc, responder analysis).

  • Changes in overall motor response (54%, p=0.0889; n=14/26) and gross motor only (36%, p=0.0522; n= 9/25) were observed in OV101 15 mg QD dose group compared to placebo at Week 12. No change was seen in fine motor ability alone with either dose.

PEDI-CAT mobility and daily activity summary score (post-hoc analysis)

  • Signals were observed in gross motor scores in OV101 15 mg QD group compared with placebo in: mobility score (0.91+/- 0.281 versus 0.08 +/- 0.294; mean +/- standard error (SE); per protocol set; p=0.0475), and in daily activity score (0.79 +/- 0.340 versus 0.00 +/- 0.300; per protocol set; p=0.0869).

Disability Index of CHAQ:

  • A signal (n=24, p=0.0704) was observed in the Disability Index of the Childhood Health Assessment Questionnaire (CHAQ) in the OV101 15 mg QD dose group compared to placebo.

ZenoTM Walkway:

  • Reduction in mean cadence (n=24, p=0.0340) and stride velocity (n=24, p=0.0406) was observed in the OV101 15 mg QD dose group compared to placebo.

Behavior Domain
In a post-hoc analysis, among patients who showed changes on the CGI-I, the Parent Global Impression (PGI) scale reported improvements in communication, challenging behavior, and anxiety. However, no significant differences were found on the ABC-C and ADAMS.

Quality of Life Domain
No changes were found between groups on EuroQoL 5-Dimension (EQ-5D-SL), Short-Form Health Survey (SF-36), or PGI.

Phase 2 STARS Trial Design
STARS was a 12-week, double-blind, placebo-controlled Phase 2 study. Eighty-eight patients (adults, n=66; adolescents, n=22) aged 13 to 49 years of age diagnosed with Angelman syndrome. The study randomized patients to one of three arms: once-daily (QD) dose of OV101 at night (15 mg), twice-daily (BID) dose of OV101 (10 mg in the morning and 15 mg at night), and placebo.

The primary endpoint of the trial was to assess the safety and tolerability of OV101 compared to placebo. The STARS trial also explored the clinical utility of OV101 on improvements in clinical global impressions, behavior, sleep, and gross and fine motor skills.

ELARA 1-year Extension Study
In the fourth quarter of 2018, Ovid expects to initiate ELARA, an open-label extension study that will enable individuals with Angelman syndrome who completed any prior OV101 study to be eligible to receive the investigational medicine. The study will use once-daily dosing and will assess long term safety and tolerability in addition to efficacy measures.

Conference Call and Webcast Details
Ovid Therapeutics will host a live conference call and webcast today, October 25, 2018, at 10:30 a.m. EDT. The live webcast can be accessed by visiting the Investors section of the company’s website at investors.ovidrx.com. Please connect at least 15 minutes prior to the live webcast to ensure adequate time for any software download that may be needed to access the webcast. Alternatively, please call 866-830-1640 (U.S.) or 210-874-7820 (International) to listen to the live conference call. The conference ID number for the live call is 7685159. A replay of the webcast will be available on the company’s website for two weeks following the live conference call.

About Angelman Syndrome 
Angelman syndrome is a genetic disorder that is characterized by a variety of signs and symptoms. Characteristic features of this disorder include delayed development, intellectual disability, severe speech impairment, problems with movement and balance, seizures, sleep disorders and anxiety. The most common cause of Angelman syndrome is the loss of function of the gene that codes for ubiquitin protein ligase E3A (UBE3A), which plays a critical role in nerve cell communication, resulting in impaired tonic inhibition. Individuals with Angelman syndrome are highly social with a typical lifespan; however, they require constant support from a network of specialists and caregivers. Angelman syndrome affects approximately 1 in 12,000 to 1 in 20,000 people in the U.S. There are currently no U.S. Food and Drug Administration (FDA)-approved therapies for the treatment of Angelman syndrome.

Angelman syndrome is associated with a reduction in tonic inhibition, a function of the delta (δ)-selective GABAA receptor that allows a human brain to decipher excitatory and inhibitory neurological signals correctly without being overloaded. If tonic inhibition is reduced, the brain becomes inundated with signals and loses the ability to separate background noise from critical information.

About OV101
OV101 (gaboxadol) is believed to be the only delta (δ)-selective GABAA receptor agonist in development and the first investigational drug to specifically target the disruption of tonic inhibition, a central physiological process of the brain that is thought to be the underlying cause of certain neurodevelopmental disorders. OV101 has been demonstrated in laboratory studies and animal models to selectively activate the δsubunit of GABAA receptors, which are found in the extrasynaptic space (outside of the synapse), and thereby impact neuronal activity through tonic inhibition.

Ovid is developing OV101 for the treatment of Angelman syndrome and Fragile X syndrome to potentially restore tonic inhibition and relieve several of the symptoms of these disorders. In preclinical studies, it was observed that OV101 improved symptoms of Angelman syndrome and Fragile X syndrome. This compound has also previously been tested in over 4,000 patients (over 1,000 patient-years of exposure) and was observed to have favorable safety and bioavailability profiles.

The FDA has granted Orphan Drug and Fast Track designations for OV101 for both the treatment of Angelman syndrome and Fragile X syndrome. The U.S. Patent and Trademark Office has granted Ovid patents directed to methods of treating Angelman syndrome and Fragile X syndrome using OV101. The issued patents expire in 2035.

About Ovid Therapeutics
Ovid Therapeutics (NASDAQ: OVID) is a New York-based biopharmaceutical company using its BoldMedicine™ approach to develop medicines that transform the lives of patients with rare neurological disorders. Ovid has a broad pipeline of potential first-in-class medicines. The company’s lead investigational medicine, OV101, is currently in development for the treatment of Angelman syndrome and Fragile X syndrome. Ovid is also developing OV935/TAK-935 in collaboration with Takeda Pharmaceutical Company Limited for the treatment of rare developmental and epileptic encephalopathies (DEE).

For more information on Ovid, please visit http://www.ovidrx.com/.

Forward-Looking Statements
This press release includes certain disclosures that contain “forward-looking statements,” including, without limitation, statements regarding (i) the potential clinical benefit of OV101 to treat patients with Angelman syndrome, (ii) the timing and results of any discussions with regulatory authorities regarding the registrational path for OV101 and approval; and (iii) the timing and scope of any future clinical trials for OV101. You can identify forward-looking statements because they contain words such as “will,” “believes” and “expects.” Forward-looking statements are based on Ovid’s current expectations and assumptions. Because forward-looking statements relate to the future, they are subject to inherent uncertainties, risks and changes in circumstances that may differ materially from those contemplated by the forward-looking statements, which are neither statements of historical fact nor guarantees or assurances of future performance. Important factors that could cause actual results to differ materially from those in the forward-looking statements are set forth in Ovid’s filings with the Securities and Exchange Commission under the caption “Risk Factors”. Ovid assumes no obligation to update any forward-looking statements contained herein to reflect any change in expectations, even as new information becomes available.

Contacts
Investors:
Lora Pike
Ovid Therapeutics Inc.
lpike@ovidrx.com

Jill Steier
Burns McClellan, Inc.
jsteier@burnsmc.com
(212) 213-0006

Media:
Tony Russo, Ph.D.
Russo Partners LLC
(212) 845-4251

1MMRM (mixed model repeated measures), is a rigorous statistical analysis that accounts for multiplicity; it includes fixed effects for visit, treatment, age (adult vs. adolescent) and visit by treatment interaction.

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