Finally! We have treatments for PWS in clinical trials. How have we gotten here?

finally we have treatments for pws in clinical trials how have we gotten hereWe are in an exciting time in PWS research. More clinical trials evaluating new drugs for PWS are taking place this year than in the last 10 years combined! For the first time ever, families will be able to choose from multiple clinical trials enrolling patients across the United States. More than 500 patients will be needed to fill these clinical trials.

Why Now? And Why PWS?

There are thousands of rare disorders identified worldwide, however most of these rare disorders do not have any clinical trials available or coming down the pipeline for their syndrome. In 2018 alone, the PWS community will have eight trials enrolling patients — so what is different about PWS? And why is our community experiencing this wave of trial activity?

These drug trials have not come out of thin air. Their existence is the culmination of more than a decade of work by many in the PWS community: PWS clinicians, parents, and advocacy groups documenting the natural history of PWS, defining the challenges of the syndrome and demonstrating the unmet medical need of patients. FPWR has been driving years of collaboration with key clinicians and researchers as well as working closely with industry and the FDA. Here are just a few activities that FPWR has been pushing forward to help get us to where we are today: six open drug trials and two on the way.Why do we have so many PWS clinical trials?

  • FPWR has been actively reaching out to pharmaceutical companies who may have an interest in PWS. We have spent hundreds of hours on the phone and in person, talking with companies about PWS, helping them understand PWS and the unmet needs of our community, facilitating clinical trial design and working to develop trials that have the best chances for success. FPWR has been recognized for its productive collaboration with industry. We understand that industry is risk-adverse so we work with them to de-risk the drug development process, making their job easier, and speed up the timeline to taking a drug to the FDA for approval.
  • FPWR funded research has led to a better understanding of PWS. PWS is an incredibly complex genetic disorder, and while we still have much to learn, more than 150 publications in high-quality medical journals have resulted from FPWR funding. These publications provide essential knowledge for research scientists and are laying the foundation for future breakthroughs. FPWR-funded studies have led to a better understanding of how the molecular changes in PWS lead to the challenging symptoms our kids experience, and have led to the identification of new targets for drug development. Several major breakthroughs have come out of our research grant program, including recently, reversing PWS in brain cells in the lab, discovery of PCSK1 as a potential target for drug development, and activation of the PWS genes in a mouse model of PWS
  • FPWR has been fostering and financially supporting the work needed to move a novel drugs and devices into early stage (Phase 1) clinical trials. This includes “preclinical studies” to test the suitability of drugs for use in humans, as well as actual early studies in humans. (eg. Gene activation compounds in PWS mouse models,; early human studies of diazoxide, oxytocin, transcranial direct current stimulation and vagus nerve stimulation.
  • Established in 2015, the Global PWS Registry now includes more than 1,500 participants! The registry is documenting the natural history of PWS and provides a rich data source for researchers and clinicians. A robust registry is attractive for industry as it shows that PWS is a “research ready” community that will facilitate fast enrollment for clinical trials. Several research studies are now being run through the PWS registry, including the PATH for PWS study, and new clinical trial endpoints are being evaluated such as the new PADQ Questionnaire developed by Levo and FPWR. Data entered into the registry is de-identified and belongs to the PWS Community, ensuring that the data will always be made available to further PWS research.
  • FPWR established the PWS Clinical Trial Consortium in 2015, which has been working to accelerate clinical trials in PWS. The PWS CTC is working to demonstrate the unmet medical need of PWS patients. As the FDA weighs benefits and risks and determines whether to approve a new drug; it is important that they understand that there are no current treatments for the most debilitating challenges of PWS, as well as the risks the community is willing to take for a given benefit. Providing data from the Caregiver Burden and Treatment Preferences surveys will allow the FDA to incorporate the patient and caregiver perspective into the drug approval process. Documenting the unmet medical need and treatment preferences is also important to stage for insurance to pay for new treatments.

The work we have done over the past decade has only been made possible by our amazing supporters: our donors, fundraisers and PWS families. It has taken the dedication of thousands of volunteers to get us here — THANK YOU! To continue down the path towards treatments for PWS, we need your continued support. There are many ways you can get involved and accelerate treatments for PWS, here are just a few of them:

1. Participate in the PWS Registry

  • Enroll in the PWS Registry 
  • Already in the registry? Retake your surveys every year!
  • The PWS Anxiety & Distress Survey is now available — complete this survey today.

2. Join the PATH Interest List 

  • The study will open in September but you can join our interest list today and be the first to hear when the study is open and enrolling
  • Participants will receive $50-100 for completing surveys every 6 months.

3. Continue to Support Our PWS Research Programs

Donate for PWS Research

Topics: News

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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