New call-to-action
New call-to-action
New call-to-action

What's Happening in PWS Research [2022 Conference Video]

In this video from the 2022 Conference, Dr. Theresa Strong and the FPWR research team discuss recent highlights on what's happening in PWS research.

In this one hour and 17-minute video, Dr. Theresa Strong and the FPWR research team explore recent research breakthroughs and emerging standards of care for PWS.

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

0:33 Introductions of Panel Participants

  • Jessica Bahonowych, PhD, Associate Director of Research Programs
  • Lisa Matesevac, PATH Study Coordinator
  • Caroline Vrana-Diaz, PhD, Research Project Coordinator
  • Theresa Strong, PhD, Director of Research Programs
  • Lauren Schwartz, PhD, Behavior and Mental Health Programs
  • Mark Ridilla, PhD, Research Program Manager
  • Ian Hassan, research team member

7:24 Update on Clinical Trials and FDA Approval Process

  • In 2021, two companies completed Phase 3 clinical trials: Levo Therapeutics and Soleno.
  • Levo went to the FDA and asked for approval of carbetocin. 
  • The FDA felt there was not enough evidence to give approval.
  • As is often the case, this smaller company was acquired by a larger company, Acadia, that has a lot of experience in the neuroscience space.
  • This means the team is hopeful that drug development will continue.
  • Soleno has completed a Phase 3 trial of DCCR.
  • Data was strong, and the PWS community is patient but persistent in letting FDA know that there are unmet needs in the community.
  • That is why FPWR is always sending surveys, to let the FDA know what is important to the community. 
  • We are also letting them know what the needs are and what kind of risk tolerance we have. We will accept a little bit of risk in a drug if it can have an effect, and we’ve done a good job of putting that all together for the FDA to see.
  • Need to keep pressure on about the urgency of approving drugs that will help our kids.
  • We want a drug that is safe and effective but we also have an urgency that regulatory agencies don’t necessarily fully understand.
  • We continue to work collaboratively with industry partners and academic partners and to bring information about trials to PWS families so we will soon have new treatments.
  • We are fortunate to have Theresa Strong’s guidance in this area.

13:00 The Global PWS Registry

  • The Global PWS Registry launched in 2015 as an online database with the ultimate goal of representing every person with PWS in the world.
  • Right now, it’s only available in English, and that is somewhat of a limiting factor.
  • It is a web-based tool that includes a series of surveys for parents and caregivers that cover the broad spectrum of PWS. 
  • The goals of the Registry are to help the community better understand PWS.
  • A lot of data from the Registry goes to the FDA, and information from the registry is used to improve clinical care and advance research.
  • In recent years, publications have gone into the peer-reviewed literature:
    • An article on vision issues in PWS, focusing on Strabismus surgery
    • A couple of articles diving deeper into mental health in PWS, including obsessive-compulsive disorders and suicidal thoughts
    • An article on blood clot risks
  • Many of these articles are open access, so anyone can pull up this information
  • The Registry is also helping to support clinical trials. Companies conducting clinical trials come to FPWR and look for matches.
  • Always new surveys coming out. In the last year, a feeding tube survey, a mood and quality of life survey were released. These help the PWS community and the research community in broader drug development.
  • The Global PWS Registry is intertwined into everything that FPWR does, and it is a tool for families and caregivers, too. 
  • If you’re not on the Registry, join it, and make sure your story is as up to date as possible.

18:04 Path for PWS Study

  • In October 2018, we launched the PATH for PWS Study as a substudy within the Registry.
  • Saw a tremendous growth in information coming in, and the number of people contributing more than doubled.
  • The result is a lot of good, robust data.
  • PATH study looks at the lifespan of PWS and all of the challenges that are different as a person ages.
  • We are getting a lot of rich data from the surveys that allows us to do comparisons over time.
    • D-dimer study
    • Thrombosis risk history
    • Blood clot risk study
    • Trends and changes in hyperphagia over time and caregiver strategies to manage hyperphagia

23:50 Mental Health, Social Cognitive and Behavior Programs

  • Several resources are under development for families,
  • A study is being conducted at Case Western focusing on telehealth interventions for young children preschool and school age, looking at improving play skills, which are building blocks of social skills and social cognition
  • Another study at Vanderbilt ran a group over zoom for teens and young adults. This one developed a specific social skills curriculum for PWS, and found positive improvements in social skills and social cognition.
  • Both of these researchers are creating caregiver materials, so FPWR will have training modules on how to do this intervention with training videos so parents can have access to these interventions for their children.
  • Behavioral and mental health challenges can be a big issue for people with PWS, and there are several other advances in this area.
    • A new questionnaire to assess anxiousness in PWS; anxiousness is a treatment priority for people with PWS and their caregivers.
    • Anxiousness in PWS does not map consistently with current anxiety measures, so the goal is to find more treatments down the line for loved ones who struggle with anxiousness.
    • An evaluation of families who participate in clinical trials and what has gone well and what hasn’t. The goal is to put together a list of suggestions for pharmaceutical companies about how to make the clinical trial experience more feasible and comfortable for families with PWS.
    • Caregiver stress. Caring for someone with PWS is a marathon and can be stressful, so there are several studies looking at how to impact and improve caregivers’ well-being.
    • Purdue University has a group of researchers with a special interest in working with caregivers of people with rare diseases. Just received a large NIH grant to do a pilot study.

30:12 Storr Foundation Research Programs

  • In 2022, FPWR received a generous contribution from John and Suzanne Storr.
  • The funds have established three new research programs aimed at expediting the development of new treatments for PWS.
  • Working to establish a definitive characterization of cultured cell models of Prader-Willi syndrome. When researchers come up with ideas for therapeutic interventions, they can use these phenotypes and these assays can be used to develop high throughput screens (used by pharmaceutical companies to develop drugs).
  • Another project is specifically targeting the biological process that is affected by the absence of magel12, and the process that magel12 facilitates for neurodevelopment.
  • Exploring ideas for how to get these biological processes to happen, even without magel12.
  • Third project is the therapeutic accelerator. FPWR has already funded some projects that are in early stages of translation, projects that we are giving an increased level of support and oversight to ensure that projects move forward.
  • The Storr family grant allows us to look longer term and explore how to pull these projects forward over the next few years. 

37:13 The Clinical Investigation Collaborative (CLIC)

  • FPWR is working as a matchmaker to bring clinicians together with industry people and organizations running clinical trials.
  • Working on a proposal development committee that is engaging the CLIC and outside stakeholders to develop protocols with research questions they want answered.
  • Trying to put together a database to ensure that clinicians are collecting the same set of labs and the same set of clinical studies to make sure that everybody’s getting the same standards of care.
  • We want to make sure that all your loved ones with PWS are getting the same high standard of care.
  • All of this data will be put into a database and if a CLIC clinician has a research question they can pull that data out.
  • An example of this is two clinicians from CLIC, Dr. Sandy Roy from Cook Children’s and Dr. Jessica Duis of Children’s Colorado, who are looking at long-term complications of feeding tubes. They asked CLIC who else was interested in the project and found a number of people who were, so they put together a working group.
  • CLIC is able to leverage expertise and get research questions answered in order to improve standards of care.
  • CLIC can help to develop scales for conditions like hyperphagia and skin picking that can help standardize care.

44:38 Promising Research 

  • These new collaborations are leading to exciting advances in PWS research and care. 
  • We’ve seen so much activity in therapeutic development for PWS over the past several years, including drug development. 

46:23 Vagus Nerve Stimulation (VNS)

  • A collaboration with General Electric has shown promise with an ultrasound way of stimulating the vagus nerve.
  • Researchers are looking at VNS for weight control.
  • Device is already in human clinical trials and now they are seeing if it might be applicable to PWS.
  • Have a new understanding of how the deep cerebellar nuclei of the brain influence hunger and satiety in PWS.
  • Early studies have been very promising and could mean a treatment that doesn’t have some of the side effects of medications.
  • Some patients using VNS have been able to decrease psych medications because it was so helpful.

49:06 Closing Thoughts

  • Global PWS Registry is helping researchers design better protocols and better studies.
  • Good data from Registry provides evidence and feedback that advances PWS research. 
  • In the past couple of years, we have seen major advances in treatment because of the Registry and clinical trials.
  • Thanks to all the parents and caregivers who share their intimate details and journeys to help us all learn.
  • If somebody you know is an expert on PWS who is interested in collaborating with other experts, check the website to see if they are a member of CLIC.

52 :13 Q&A

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.