Please help us measure anxiety in PWS!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)?”.
Speech requires a complex combination of cognitive processing to quickly find and combine the right words, paired with the physical process of producing sounds. Since PWS impacts a variety of pathways that contribute to speech and sound development, it is not surprising that 88% of individuals within the Global PWS Registry have at some point received speech therapy. The factors affecting speech and communication in PWS include issues with developmental delays, auditory and cognitive processing, oral and facial muscle strength, high-arched palate, and low saliva production. With regard to the sounds of speech in PWS, characteristics often include unusual prosody, or melody of speech; difficulty with articulating words; hypernasality; a slow speaking rate; and flat or abnormal pitch and intonation.
For every FPWR Family Conference, we introduce new panels, topics or activities, and this year I’m excited to announce our first-ever panel with three of the world’s most relevant PWS behavior experts.
Moderator Lauren Roth will lead panelists Elizabeth Roof, Kate Anne Woodcock and Anastasia Dimitropoulos in a discussion on what they’ve learned in recent trials on behavior and what is being done to help us all overcome behavior challenges in our loved ones with PWS.
We’re thrilled to bring such a high-caliber group of PWS behavior experts together for the first time, and we’re equally excited about the other sessions they’re involved with throughout the conference.
FPWR and Zafgen have partnered to execute a four-year study that will advance the understanding of natural history and medical events in people with Prader-Willi syndrome.
The PATH for PWS study (Paving the way for Advances in Treatments & Health for PWS) is a non-interventional, observational study of serious medical events in PWS, intended to inform development and clinical trial design for potential new treatments for PWS.
In our continued commitment to provide information on PWS clinical trials, FPWR is pleased to share our new Interactive PWS Clinical Trial Finder. The latest addition to our clinical trials information page, this interactive map allows caregivers to quickly find trial sites based on location and learn more about sites that are of interest to them.
We’re counting down the days to this year’s FPWR Family Conference in October, and I know we’ll all get something out of Kolby Kail’s session on Improving Clarity of Speech in PWS.
Kolby Kail is licensed in California as a speech-language pathologist. She has more than 15 years of experience treating children with speech difficulties.
Her session will give parents and caregivers practical solutions, including questions to ask when they’re interviewing a speech-language pathologist, as well as activities and exercises we can do with our children at home.
We’re all looking forward to this year’s FPWR Family Conference, and one of the informative sessions I hope you’ll join me at is Melanie Silverman’s Optimal Nutrition in Prader-Willi Syndrome.
Melanie is a pediatric registered dietitian and board certified lactation consultant. She’s worked with patients who have PWS for more than 10 years, and she’s gained a wealth of knowledge about what a healthy diet looks like and how dietary recommendations have changed over time. Melanie is also the Chief Clinical Officer for Pacify, a tele-health mobile application.
As every parent and caregiver knows, feeding kids with PWS is one of the biggest challenges we face and one of the most emotional. As Melanie notes in her session description for Optional Nutrition in Prader-Willi Syndrome, “Nutrition is complicated, and the internet isn’t helpful.” She’s here to give all of us a better understanding of what and how to feed our loved ones, both adults and children.
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.
In just 3 minutes, FPWR's new video, What Is Prader-Willi Syndrome?, explains the basics of PWS — how it occurs, some of the challenges of PWS, and promising research into treatments. Narrated by Susan Hedstrom, Executive Director of FPWR and the parent of a child with PWS, it features many photos of people with PWS and their families — and it ends with a message of hope.