Foundation for Prader-Willi Blog | Research

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.

Researchers are making progress in evaluating the potential therapeutic benefit of oxytocin for PWS. Here, we review some of the most prominent research studies in this area and their implications for PWS.

This guest blog was contributed by Dr. Jessica Duis, Pediatric Geneticist at Vanderbilt University Medical Center and author of A Multidisciplinary Approach to the Clinical Management of Prader–Willi Syndrome.

One of the most common questions I hear is “Why did you decide to be a geneticist?” This is a relatively difficult question to answer. When I think about it, no one event comes to mind. It was a path set in motion from the time I was young and wondered how maternal environment impacted the outcome for a child. While there was a personal basis in this, it was not until later my curiosity transformed into a passion to make a positive impact on the lives of individuals with genetic disorders, particularly chromosome 15 disorders. I entered medicine to really make a difference and to me that meant make myself accessible and provide even the simplest of things to try to improve quality of life.

The recently published study "The characteristics of temper outbursts in Prader-Willi syndrome," sheds light on temper outbursts in Prader-Willi syndrome. This is a common challenge for many people with PWS. Drs. Rice, Einfeld and Woodcock, all very experienced researchers in the area of PWS, set out to develop a more comprehensive understanding of the characteristics of temper outbursts in PWS. In this study they explored the age of onset, frequency, duration and the types of situations that appeared to lead to a temper outburst. The researchers also questioned whether aspects such as age, gender, genetic subtype and onset of hyperphagia may affect temper outbursts.

The Foundation for Prader-Willi Research (FPWR) announces a the funding of 11 Research Awards totaling more than $1,000,000. FPWR is dedicated to supporting research that advances the understanding and treatment of Prader-Willi syndrome (PWS) and related disorders and to that end, has awarded nearly $12,000,000 in research funding since 2003.

 “We’re very excited about FPWR”s newly funded research projects, which will provide critical knowledge about PWS and advance innovative, new therapies for our community”, said Dr. Theresa Strong, Director of Research Programs. “We are thrilled to be supporting a broad array of proposals, which span the research and development spectrum.”

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.

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.