Town Hall Highlights PWS Research Achievements [2018 CONFERENCE VIDEO]

This blog is based on the Research Town Hall presented by the FPWR Research team at the FPWR 2018 conference. You can watch the complete presentation by clicking on the embedded video. In case you don't have time to watch the full video, we've summarized each presentation below.


Theresa Strong, Director of Research Programs
An Overview of The FPWR Grants Program

Theresa Strong is a geneticist as well as the parent of an adult who has PWS, and is a co-founder of FPWR. A few years after her son’s diagnosis, Theresa met other families who were like-minded in the belief that we could be helping to further advance PWS research. There was a need to help support academic researchers who were dedicated to PWS but didn't necessarily have the funding to perform PWS research. So, with the help of Alice Viroslav, Rachel Tugon, Lauren Schwartz Roth and others, FPWR was founded.


In this presentation, Theresa Strong provides an overview of the FPWR Grant Program, which has been the ‘bread and butter’ of PWS research over the last 15 years and has been imperative in building a robust PWS research community.

The grants program is designed to support innovative research, and while the research funded is often in the discovery phase, the grants program will support research anywhere along the drug development pathway. We're looking for innovative projects, new ideas about PWS, and new ideas about treating PWS. Grants are selected for funding from a pool of applicants based on scientific merit, so scientists review each grant to make sure that they're scientifically sound, and then parents review the projects as well, to make sure that these are projects that are important to our families. Even if it's good science, if it's not important to our families, then it’s not ours to be funding. So, we use this collaborative process to select grants that are highly relevant as well as scientifically sound.

The goals of this program are to, among other things, support the best research but also to expand the number of PWS researchers. We held our annual PWS Research Symposium on October 4th  and were greatly impressed by the number of new investigators who hadn't been working in PWS but who had expertise in behavior or oxytocin or many of the aspects that are important to PWS. Now with FPWR funding they are really applying their knowledge to PWS. So, we want to draw scientists into the field, support promising young investigators and then, for those researchers who have been in the field and know PWS, we want to give them the opportunity to try out new ideas.

We first began funding research grants in 2004 and since then, we've invested more than $11 million dollars in research, supporting more than 150 projects in 13 countries. We fund researchers from around the world as we are looking for the best research, no matter where it is being done.  One of the ways that we can tell if our researchers are doing good work is how they publish it: that's a way for them to get their information out into the scientific community so others can build on that information. Research we have supported has led to more than 150 publications.  

FPWR provides seed funding so that researchers can get additional funding from other sources like the U.S. National Institutes of Health. Our funding has led to more than an additional $15 million dollars in funding from government sources to continue to build that research and continue to build that knowledge. That's one of the important roles that we play as an advocacy organization. With this funding there has been several new resources that have been developed as well as  new drugs, and new candidate drug targets.

Most research FPWR funds is at the discovery stage, so we are supporting the development of new ideas, but we go all the way through supporting some of the early stage clinical trials. While the expense of late stage clinical trials is too much for an organization of our size to support, we can support early stage clinical trials which can then be taken the rest of the way by industry.


Nathalie Kayadjanian, Director of Translational Research
PWS Clinical Trials Consortium, Pre-Clinical Animal Models Network

Nathalie Kayadjanian is a neuroscientist by background. She has been working in the rare disease field for more than 10 years, mainly in neuromuscular and neurodegenerative disorders, in nonprofit, academic and industry settings.


In 2016, FPWR developed a five-year research strategic plan to de-risk drug development and prioritize our limited resources. We know that drug development is a very long and very expensive process, often taking 10 to 15 years, and to make matters even more challenging, there is a 90% failure rate. So how can we, FPWR, do better this?

Increasing efficiency along the drug development pathway begins in the discovery stage with a strong animal model. FPWR has developed a preclinical animal network that is working to create new, stronger models of PWS and to develop the appropriate tests that can be used to better measure efficacy when screening potential drugs. In addition to mouse models, we are constructing a number of larger animal models such as the pig, rat and soon, primates.

To address bottle necks in clinical trials, and aid with enrolling patients, we are preparing to launch a PWS clinical site network across the US and Canada that will help and increase the number of sites that perform clinical research as well as clinical trials. The goal is to increase the geographic coverage of clinical trial sites so that they are closer to our patients across North America so that we can increase the number of patients that can participate in trials.

In 2015, FPWR launched the PWS Clinical Trial Consortium to bring together expertise from industry, patient organizations, clinicians, and researchers. The consortium is primarily focused on two goals: to support the development of new measures for treatment efficacy in clinical trials and to incorporate the voice of caregivers and individuals with PWS in clinical trials.

The consortium continues to work towards better measures of hyperphagia. Until recently weight was a proxy measure of hyperphagia but losing weight is not really our goal. Many of our loved ones, who are in controlled environments, are not overweight. So now, many of the PWS clinical trials are looking to measure change in hyperphagia, rather than weight loss.

It is becoming increasingly important to incorporate the caregivers perspective into clinical trials. Studies show that the risk-benefit profile of caregivers is often very different from what the clinicians think. We want to document all of this information so we can have a really good view of the perspective of the caregivers and as well as the individuals with PWS.

The Consortium is working on several projects to help increase awareness of the needs of PWS patients. A video has been created that documents the challenges of PWS. Earlier this year we published data on the PWS caregiver’s burden and we have also recently completed a project that quantifies the treatment preferences and priorities, of caregivers. One last initiative that the consortium has just begun this year is collecting data about how the patient's themselves prioritize potential treatments.


Lauren Schwartz Roth, Behavior and Mental Health Programs
Mental Health Initiatives

Lauren Schwartz Roth is a member of the FPWR research team focused on behavior and mental health programs. She is a psychologist at the University of Washington in Seattle, but most importantly, the mom to a young lady with Prader-Willi Syndrome, Emma, who's 19.

In 2015, FPWR conducted a mental health research strategy workshop, where we gathered scientist researchers from all over the world to talk about developing a plan for Prader-Willi research, particularly focusing on mental health and behavioral issues. We then published a paper highlighting the top 10 recommendations that came from the program and recently, we have shared progress that's been made on these recommendations. The bottom line is a lot has been done, which is pretty exciting because a few years ago there was not a whole lot in the area of mental health and behavior research in Prada-Willi Syndrome! Here are the top five reasons to have hope:

  1. It's been all the rave the last five to ten years. Recently a researcher, Dr. Nirbay Singh, conducted a study looking at using a specific mindfulness protocol that he modified for use for people with developmental disabilities to see if he could help teach people with Prader-Willi to use this strategy and to improve behavior. He found that not only were people with PWS able to be compliant with the protocol, but he also found a significant reduction in temper outbursts and aggression, which can be problematic for some people with Prader-Willi Syndrome. Now Dr. Stewart Einfeld and Dr. Rice are recruiting for a larger study, looking at the impact of using mindfulness on temper outbursts and anxiety in teens and young adults with Prader-Willi Syndrome. This intervention will be portable so that anybody will be able to use it if it's found effective. The results should be out next summer (2019).
  2. Progress in addressing social challenges. People with PWS can experience social challenges both when they're young and as they get older. There's a couple of great studies that have been done in the last two years. The BOSS Study focused on teens and young adults. The team at Vanderbilt University developed a specific curriculum to teach people with PWS specific skills for emotion regulation, social skills and friendship skills. The group met online a couple times a week for ten weeks. The second study was done by Dr. Dimitropoulos and her team at Case Western Reserve who are looking at a telehealth intervention for preschool aged children to determine if early intervention can improve the development of social and cognitive skills. You can learn more about both of these studies by watching this presentation from the 2018 FPWR Conference.
  3. Vagal Nerve Stimulation. A small study, a few years ago, showed that Vagal Nerve Stimulation may have effects on behavior and Prader-Willi Syndrome. Dr. Holland and his team are using a Transcutaneous Vagal Nerve Stimulator (an external device) and they have found significant improvements in temper outbursts, aggression, social functioning, and temperament; where patients seem more flexible, and relaxed. This study's offers hope for potential, non-medication intervention for our children in the future.
  4. Guanfacine. In a case study of 20 individuals, ages 6 to 26, guanfacine was found to decrease symptoms of agitation, feelings of anger, improved attention and decreased skin picking. Guanfacine is a medication that's already out on the market for attention deficit issues. Dr. Singh is interested in moving his research of guanfacine forward to do a more focused clinical trial looking at this area. So future research is warranted to confirm these findings and larger samples.
  5. Caregiver Stress. This is a really important issue. Parenting a child with special needs can be wonderful and can open up a lot of opportunities and friendships and connections, but it can also be very stressful and it's a marathon, not a sprint. Parents need support and tools to help keep us going. FWPR is very interested in receiving and reviewing proposals over the next year for potential interventions for parents of children with Prader-Willi Syndrome. When parents are doing better, our kids do better too. So improving our health, both mental and physical, helps our children as well.

Jessica Bohonowych, Associate Director of Research Programs
The Global PWS Registry

The Global PWS Registry is designed to be a web-based database that contains information about people with PWS from around the world. Having information on the many symptoms and challenges of PWS in a central database is critically important. The registry allows the research community, as well as parents and families, to better understand the full spectrum of PWS characteristics. A registry is also important in helping to expedite the completion of clinical trials. One of the biggest hurdles of clinical trials is the recruitment of eligible participants. If you have indicated you may be interested in clinical trials, the Registry will send you trial information when you meet trial criteria based upon the information you've put into the registry.

The Registry is able to take your individual PWS experience, and when combined with the data of other registry participants, it lets us pick up on new trends. For example, seizures in PWS. Is it more prevalent in PWS versus the regular population? Is there a genetic subtype? There's basic information that we need to know in order to drive a research study into that area.

The Registry can also help guide standards of care. There are surveys for example, on medications and dietary supplements and behavioral therapies. It asks a lot of questions of what's working for you, what have you tried, what's working, and what's not working with the goal of being able to create general standards of care that people with PWS are benefiting from.

The Registry consists of web-based surveys that can be completed individually, so you can complete them as you have the time. The surveys can also be updated as things change over time. For example, if a medication changes, you can log in and update that survey with the change.  After you complete a survey, you are given access to see the aggregate data for all of the questions that are in that survey. So if you want to know how many people have had a sleep study, go answer the sleep survey and then you can see how many people have had a sleep study!

Over the past few years we have been able to begin several new collaborations and projects through the Registry. As we are looking to develop new endpoints for clinical trials, the registry has become vital to collecting pertinent data. The Caregiver Burden publication used data collected in the Registry and recently, Soleno Therapeutics completed the first comprehensive analysis of Registry data that looks at medications and supplement information. Another group is looking at the incidence of individuals in PWS in the Registry that are undergoing total hip and knee arthroplasty with a goal of developing orthopedic recommendation that could guide families as to whether or not to pursue hip or knee replacements. Additionally, FPWR has partnered with Zafgen on the PATH for PWS project which will track serious medical events in individuals with PWS over 4 years.


Theresa Strong, Director of Research Programs
FPWR Clinical Care Program

We would love nothing more than to develop a gene therapy for PWS. We recognize, however, that an effective gene therapy is going to take a long time to develop. We're working on advancing gene therapy for PWS, but in the meantime, we want to make sure that all of the drugs and therapies that are on the market now are being optimally used for our kids and adults with PWS. That is the focus of our Clinical Care program: to alleviate PWS symptoms in the near term using existing medicines and treatments by determining if and how they can be optimally used for individuals living with PWS. We have collected input from our expert clinicians as well as from families and merged them together into a long list of symptoms and possible treatments. Several clinical care projects have already been funded, Mindfulness for example, and others are in the works, such as GH for adults with PWS.

Those of us with older kids know that as soon as your child's done growing or as soon as they hit the magical age of 18, the insurance company does not want to pay for growth hormone any longer, Despite that there's a lot of data that says GH benefits adults with PWS (i.e. improves body composition, stamina, cognitive flexibility),in order for our adults to have access, we need to have convincing data to share with the insurance company. So a major focus of our Clinical Care program is completing a definitive clinical trial that will allow us to more easily access GH for all of our adults with PWS.  


John Walter, CEO, FPWR
Laying the Groundwork for Clinical Trials

While FPWR has been funding research for 15 years now, nearly 75% of our dollars have been invested in just the last 5 years. By the end of 2018, we will be close to $12M invested in PWS research.

15 years ago, before FPWR existed, the body of knowledge around PWS was very small. Even today, the only FDA approved drug for PWS is growth hormone. But with your support, and investment in FPWR, we've been able to build the body of knowledge and identify some early research that could potentially bring treatments for PWS.

FPWR has been laying the groundwork for clinical trials since 2003. Here are just a few examples:

  • For many years we have invested in research of Ghrelin and oxytocin, and now, we have companies that are conducting clinical trials in those areas.
  • In 2012, FPWR invested in a Phase 1 clinical trial of Diazoxide, which has now moved into a Phase 3 study and has received a fast track designation for FDA approval.
  • We have supported non-drug interventions as well such as Vagus Nerve Stimulation which shows great potential in improving behavior in PWS.
  • We've been funding work in gene activation and gene replacement
  • Most importantly, by funding this early work it has allowed for additional investment from the NIH, FDA and industry
  • By next June there may be as many as be ten active clinical trials in PWS

Watch the full set of conference videos on YouTube.

Learn more about clinical trials on our PWS clinical trials page

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Topics: Research Blog

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 natural history of PWS. Inspired by her first FPWR conference and the team of researchers that were working to find answers for the syndrome, she hosted her first One SMALL Step walk in 2010 and began the development of the One SMALL Step walk program which now raises over $1.5 million a year for PWS research.

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