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What's Happening In PWS Research? [2021 CONFERENCE VIDEO]

In this video, Dr. Theresa Strong and the FPWR Research Team talk about what's happening with the PWS research projects the foundation is advancing.

In this 67‑minute video, Dr. Theresa Strong and the FPWR Research Team share highlights of projects we are currently advancing. The session includes Q&A from participants in the 2021 FPWR Virtual Conference.

Click below to watch the video. If you're short on time, scroll down for timestamps to find the portions you're most interested in.


Presentation Summary With Timestamps

What’s Happening in PWS Research?

00:36 CEO John Walter – Introduction

  • Today we’ll hear from our research team and I’d like to introduce them: Dr. Theresa Strong, Director of Research Programs; Lauren Schwartz Roth, Behavior and Mental Health Programs; Jessica Bohonowych, Associate Director of Research Programs; Lisa Matesevac, PATH Study Coordinator; Caroline Vrana-Diaz, Research Project Coordinator. 
  • They will talk today about some of the things we are working on to help with the advancement of trials and to help with day to day activities with your loved one.

01:38 Dr. Theresa Strong Presents – Facilitating Research Across the Drug Discovery and Development Pathway

  • This is a diagram we use to depict the drug development pathway. The left hand side shows the research and development stage, during which we identify targets that can be treated through preclinical development. 
  • The clinical development stage includes testing drugs or gene therapies in cells and animal models of PWS through the clinical trial process of phases 1, 2, and 3.
  • The right hand side shows the post-approval stage when a therapy has been approved and we're trying to make sure that it is being applied to the population in the way that is optimal for our loved ones with PWS.
  • What we'll focus on today is the bottom half of the diagram, which shows the work our research team is doing to accelerate projects along this entire pathway.

05:43 Dr. Lauren Schwartz Roth Presents – Behavioral and Mental Health Programs

  • PWS Mental Health Guidebook. This is a project we completed last year. It is currently available for download on our website. 
  • The guidebook is based on interviews with caregivers whose loved ones have had mental health challenges and on interviews with PWS mental health experts.
  • The guidebook contains information about the symptoms of mental health struggles, especially aspects that might be unique to people with PWS.
  • It has information about early warning signs, how to get treatment, the benefits and challenges of medications and non-medication approaches, and other resources and coping tips for parents and caregivers.

07:12 PWS Social Skills Tip Sheets

  • Social skills are a struggle for many children and young adults with PWS because they have to contend with challenges that make developing social skills difficult, including hyperphagia, neurocognitive issues, emotional regulation difficulties, and motor planning challenges.
  • We’ve created tip sheets that focus on early play skills and how to improve those for young children with PWS. 
  • Recent studies highlight potential targets for the development of new interventions focused on improving social skills and connections for our loved ones with PWS.
  • The tip sheets should be available soon on our website. The goal is to provide a quick and easy way to access recent research findings, as well as provide suggestions for parents about how to incorporate research findings to help your child be more successful in the social arena.

08:50 Defining Behaviors in PWS

  • A new publication defines behaviors in PWS. 
  • As parents, we know that explaining the symptoms of PWS to teachers or healthcare providers can be a challenge. It can also be a challenge to explain behaviors, such as anxiety, hyperphagia, or rigidity for clinical trials and regulatory agencies.
  • We gathered a group of expert PWS researchers and clinicians from the behavior outcomes working group of the international Prader-Willi Clinical Trials Consortium to write a paper to address this gap in the literature.
  • This was a multi-year project involving top PWS experts worldwide to create consensus definitions for common PWS behaviors, which are likely to be the targets of clinical trials.
  • This paper, which was recently published in the Journal of Neurodevelopmental Disorders and is available free online, is a crucial step in facilitating meaningful trial protocols to test treatments for PWS.
  • Take a look at the paper, here,  and see if the definitions and descriptions ring true for your loved one with PWS. 

10:50 Addressing Caregiver Coping and Stress

  • The pandemic has been hard for many parents and it's been especially challenging for parents of children with special needs.
  • Parenting a special needs child is a marathon, not a sprint. We as parents need support and coping tools not only for our kids but also for ourselves. 
  • FPWR has recently funded a treatment study being conducted by an excellent research group who has experience working with families with children who have rare genetic conditions.
  • This study, which is slated to start in early 2022, will test a telehealth intervention for parents and will use evidence-based treatment strategies that have been modified to address the specific concerns and stresses of PWS parents.
  • It will look at the impacts on parent coping and well-being, as well as the child’s coping and behavior outcomes.

12:08 PWS Mental Health – Mindfulness Study Recruiting

  • A remote, ongoing study in Australia is looking at the usefulness of mindfulness as an intervention for people with PWS. It is still recruiting and is also open to participants who are not in Australia. Visit our website to learn more about participating.
  • The study will look at whether mindfulness can help reduce anxiety and behavioral challenges. 
  • Several years ago there was a study done on a very small group of adolescent boys with PWS using a mindfulness technique called Soles of the Feet and it was found to be very effective in reducing temper outbursts and other behavioral challenges.

13:38 Looking Ahead to 2022

  • We are developing a plan to explore neurobiology and cognitive challenges in PWS. 
  • We are also planning a project in the U.S. to investigate the use of vagus nerve stimulation to address emotional outbursts and other behavioral challenges in PWS. 

14:29 Two Ongoing Clinical Trials 

  • Two ongoing clinical trials focused on behavior outcomes in children and young adults with PWS are underway in New York.
  • Dr. Deepan Singh is studying the impact of Guanfacine on temper outbursts, agitation, and skin picking in PWS.
  • Dr Eric Hollander is examining the impact of CBDV on appetite, behavior, and other aspects of social interaction in PWS.
  • Both studies have had some delays in starting because of Covid-19 but are back on track and recruiting now.

16:13 Jessica Bohonowych Presents – Goals of the Global PWS Registry

  • The registry is a web-based, comprehensive database that has been designed to capture information about everyone with PWS. By centralizing that information, it allows us to better understand the full spectrum of PWS. 
  • It also supports and expedites the completion of PWS clinical trials by providing notifications to registry participants.
  • It helps us identify areas of needed research and treatments.
  • It helps guide standards of care by allowing us to describe what works well and what doesn’t work well for families. 
  • Its overarching goal is to improve the lives of all individuals with PWS and the lives of their family members. 

19:28 Update on Registry Growth

  • Over this past calendar year to date, more than 200 new participants have joined the registry. 
  • More than 8,500 new surveys were completed. The registry has more than 40 unique surveys, which cover many aspects of PWS, including birth history, pregnancy, early diagnosis, developmental milestones, gastrointestinal issues, orthopedic issues, and behavior, among others. 
  • Sixty-three countries are represented in the registry, with the majority of participants in the United States and Canada.
  • There is a broad representation of ages within the registry.

21:11 Publications Using Data from the Global PWS Registry

24:22 Highlighted Data from the Global PWS Registry

  • We also provide data back to the community through infographics. Infographics created this year include:
    • An infographic about gastrointestinal issues and PWS, specifically focusing on gastroparesis.
    • An infographic about thyroid issues and PWS.

26:50 Collaborations and Projects with the Global PWS Registry

  • The registry is helping us develop better endpoints for clinical trials in PWS. 
  • Registry data helps us understand and develop better standards of care.
  • We are examining the quantity and types of psych medications that are being taken by individuals with PWS. 
  • In the next few months, a new survey will be released about feeding tubes.  

29:53 Lisa Matesevac Presents – The Path for PWS Study

  • The Path for PWS Study is a four-year, non-interventional, prospective study that began in October of 2018. We enrolled more than 650 participants with PWS aged 5 and older from the U.S., Canada, Australia, and New Zealand.
  • The study, which is housed in the Global PWS Registry, asks participants to complete surveys every six months. The surveys collect data about serious medical events, behaviors, and food security.
  • The study is in its third year and over 92 percent of the participants are still actively engaged in completing surveys.

30:43 Serious Medical Events

  • Respondents are asked to document serious medical events.
  • As of September 2021, 37.6 % of the total participants have documented a serious medical event for a total of 368 events.
  • Of those, over 40% have had multiple events since the start of the study and of those with multiple events, 21% have had more than one serious medical event in a six-month time span.
  • Mental health events are the most commonly reported in the older population, followed by gastrointestinal events.

32:10 What Have We Learned?

  • We ask questions about hyperphagia and food security measures, and collect data on height, weight, and other characteristics. The data allows us to see how behaviors around food change over time across the population. 
  • Hyperphagia increases with increasing age, but the scores do vary widely. We also see a trend for those with higher hyperphagia scores to have a higher body mass index. 

33:26 Behavior / Psych Medications

  • We also looked at the use of polypharmacy, which is the use of multiple medications to treat the same condition, in the drug category of behavior and psychiatric medications.
  • More than 33% percent of children in the 5- to 10-year-old age group are taking at least one behavior or psychiatric medication.
  • In the adult population, approximately 65% are prescribed one or more medications for behavior and mental health needs and as much as 25% are taking three or more medications.
  • Children in the 5- to 10-year-old age group are more commonly prescribed medications for ADHD or focus and alertness.
  • Adults with PWS are more commonly prescribed behavioral and mood medications.

34:54 What Comes Next?

  • The information we’ve gathered has allowed us to launch two new projects:
    • We are conducting a study of hyperphagia variability in adults and how food behaviors change over time. 
    • We've launched a survey to collect data on the food behaviors of those without PWS. It will establish baseline data that can then be used to compare food behaviors of those without PWS to food behaviors of those with PWS.

36:44 Caroline Vrana Diaz Presents – Recap of 2nd Annual PWS-Clinician Investigation Collaborative (PWS-CLIC)

  • The mission for PWS-CLIC is to improve the clinical care for people with PWS across their lifespan through collaborative investigation and evidence-based clinical research.
  • The first aim is to establish evidence-based standards of care.
  • The second aim is to make it easier for people with PWS to become involved in clinical research.
  • The third aim is to foster collaborations between clinicians and clinical researchers to move both research and care in the field of PWS forward.
  • The second annual PWS-CLIC meeting took place last week with 27 PWS expert clinicians from three different provinces in Canada and 18 different states in the United States.

39:04 Takeaways from the Meeting

  • A large group within PWS-CLIC is working to improve care by standardizing the recommended tests and labs conducted.
  • Another group is focused on feeding tube use and complications, and they will be conducting a survey through the Global PWS Registry.
  • We also started a discussion about improving the efficiency of how clinical trials are implemented.

42:01 Dr. Theresa Strong Presents – Genetics & Advocacy Updates

  • We are piloting a multi-year project using whole genome sequence analysis to better understand the severity of symptoms in PWS.
  • The project is looking at whether DNA variations outside of the PWS region influence symptoms, which could help families better understand long-term risks, as well as what medications might work best for their loved one with PWS. 
  • This project is being completed remotely, using information gathered by the registry about these symptoms.
  • Approximately 50 families have been recruited.

45:14 Informing the FDA about Our Needs

  • Two drugs, Soleno's DCCR and Levo's Carbetocin, have completed phase 3 clinical trials with positive results and the FDA is now reviewing the data to see if it meets their standards for drug approval.
  • It is critical that we inform the FDA about the needs of our community. We have been building a body of information the FDA can use in their decision making.
  • We have shared a number of publications, which are based on your participation in our surveys, with the FDA to give them an understanding of the needs of our community.

48:50 Q & A 

Learn more about the 2021 FPWR Virtual Conference.

FPWR Enewsletter

Topics: Research

Susan Hedstrom


Susan Hedstrom is the Executive Director for the Foundation for Prader-Willi Research. Passionate about finding treatments for PWS, Susan joined FPWR in 2009 shortly after her son, Jayden, was diagnosed with Prader-Willi Syndrome. Rather than accepting PWS as it has been defined, Susan has chosen to work with a team of pro-active and tireless individuals to accelerate PWS research in order to change the future of PWS. Inspired by her first FPWR conference and the team of researchers that were working to find answers for the syndrome, she joined the FPWR team in 2010 and led the development of the One SMALL Step walk program. Under Susan’s leadership, over $15 million has been raised for PWS related research.