Foundation for Prader-Willi Blog | Research

This guest blog was contributed by researchers Elisabeth Dykens and Elizabeth Roof of Vanderbilt University 

Does your loved one with PWS have hyperphagia? The answer isn't as simple as yes or no. Even if your loved one does not display the hallmark hunger, there are likely other aspects of hyperphagia that are present. In this blog, we'll discuss some of  the nuance involved in hyperphagia in PWS.

More than 150 scientists, clinicians, industry representatives and community members attended FPWR’s 2018 Research Symposium, making it one of the largest collaborative Prader-Willi syndrome (PWS) research meetings held to date. The single day program included 26 oral presentations and 22 posters representing all areas of science from discovery to preclinical and clinical research.

“The quality of science shared at this year’s meeting was remarkable. PWS research encompasses a wide range of disciplines and the research presented at the Symposium reached across the spectrum, advancing topics that are important to the PWS community,” said FPWR Director of Research Programs Theresa Strong, Ph.D.

Several NEW PWS trial opportunities are now available. FPWR maintains the latest clinical trial information so that you can stay abreast of trial opportunities. Some trials require in-person visits while others can be completed remotely. Some trials are testing new drugs while others are intervention (non-drug) or natural history studies, like the PWS Weight Study described below.

Mental health and behavioral problems are a major challenge for individuals with Prader-Willi syndrome (PWS), with significant impacts on quality of life and independence for both the person with PWS and their family. In 2015, FPWR conducted a two-day workshop bringing together approximately 45 top mental health researchers and clinicians from around the world to discuss behavior and mental health in PWS. The goal of the workshop was to develop a strategy for moving the science in the area forward. As part of this strategy, 10 recommendations were developed to advance mental health research and treatments for people with PWS (see article, Prader-Willi syndrome mental health research strategy workshop proceedings: the state of the science and future directions). Progress on these 10 recommendations is summarized below. A downloadable PDF of these recommendations is also available. 

This guest blog was contributed by Sara Cotter, CEO, Levo Therapeutics.

When developing new medicines to treat PWS, companies need to demonstrate meaningful improvements in PWS symptoms. For growth hormone, this was relatively straightforward because changes in height are easily measured. For behavioral or psychiatric symptoms in PWS, this becomes a far more challenging task.

As a community, we are so fortunate to have the Hyperphagia Questionnaire for Clinical Trials, also known as the HQ-CT. This hyperphagia questionnaire was originally developed by Elisabeth Dykens and colleagues at Vanderbilt University, and further adapted for clinical trials by Zafgen and RTI Health Solutions. It measures observable behaviors related to hyperphagia, with questions like: “How upset did the person generally become when denied a desired food?” and “How often did the person try to sneak or steal food (that you are aware of)?”

Several NEW PWS trial opportunities are now available. FPWR maintains the latest clinical trial information so that you can stay abreast of trial opportunities. Some trials require in-person visits while others can be completed remotely.  Some trials are testing new drugs while others are intervention (non-drug) or natural history studies, like the PWS Weight Study described below. 

FPWR does not endorse or recommend any specific study. Our goal is to provide information to help members of the PWS community decide whether participation in a clinical trial is right for them and their loved one with PWS.  Anyone considering participating in a clinical trial should discuss the matter with his or her physician. 

The results of a Phase 2 clinical trial evaluating carbetocin in PWS have just been published in the journal JCI Insight. The findings of the paper, "Intranasal Carbetocin Reduces Hyperphagia In Individuals With Prader-Willi Syndrome," support the advancement of the drug to a larger and longer Phase 3 evaluation in the PWS population.

On May 15, PWSA-USA and FPWR jointly presented the webinar How Patients Can Partner to Speed Treatments for PWS. The webinar provided important information about PWS clinical trials including: what to expect when participating in a trial, what questions you should ask, and how to get the information you need to decide if a clinical trial is right for your loved one with PWS. The webinar also gave a brief overview of the trial opportunities that are available in 2018. You can watch the webinar in its entirety or read a summary of the webinar below.

FPWR congratulates Dr. Elisabeth Dykens, who was awarded last night with a Rare Impact Award by the National Organization for Rare Disorders.

Dr. Dykens may best be known in the Prader-Willi syndrome (PWS) community for developing the Dykens Hyperphagia Questionnaire, an assessment of the food-seeking behaviors common among individuals with Prader-Willi syndrome, which has become the gold standard for measuring outcomes in PWS clinical trials.

Soleno has announced the opening of their first clinical trial site for a Phase 3 study of DCCR to measure the drug's efficacy for treating hyperphagia in PWS. That site is Seattle Children’s Hospital.