Behavior Biomarkers Working Group
Measuring the effect of a treatment on hyperphagia within the limited time-frame of a clinical trial has proven to be challenging. Body mass index (BMI), DEXA and weight can be useful proxy measures in overweight or obese patients who are hyperphagic. They are, however, less relevant for patients whose weight is maintained under external control or for patients who are at an earlier stage of the disease (pre-hyperphagic stage). In addition, these measures do not capture food-seeking abnormalities characteristics of individuals with PWS such as food sneaking and theft, foraging through the trash for food, getting up at night for food seek and eating unpalatable items (Dykens 2000). The hyperphagia questionnaire developed by Dykens and al (2007) addresses some of these issues and provides a quantifiable outcome measure for hyperphagia. It is currently the most used outcome measure in clinical trials for hyperphagia in PWS. It does not, however, capture the full spectrum of behavioral characteristics of PWS patients such as anxiety and other behaviors.
The overall goals of this working group are to develop new or assess existing outcome measures for measuring hyperphagia and other behaviors common in PWS that are likely to be of interest in a clinical or other intervention trial.
Patients and Caregivers Voice Working Group
Ensuring the safety, effectiveness and quality of human drugs is an increasingly complicated task that requires not only consideration of a multitude of complex factors but integration of multiple stakeholders’ perspective. Current thinking, including that of regulatory agencies, recognizes that the clinical trial review process could benefit from a more systematic and expansive approach to obtaining the patient and caregivers perspective on disease severity and current available options in a therapeutic area. Patients and caregivers are uniquely positioned to inform regulators` understanding of clinical context, i.e., the unmet needs and meaningful impacts of a treatment for PWS, and contribute to the benefit / risk analysis.
The overall goal is to support the patients and caregivers` perspectives by using rigorous, generalizable and quantifiable risk-benefit assessment tools that will serve as scientific evidence. Understanding how disease severity vary across individuals with PWS, what matters to the patients and caregivers , and how PWS affects their quality of life will help regulators and researchers to better respond to unmet patient`s and caregivers` needs.
Specific aims of this working group include:
Measure the social, financial and psychological impact of PWS on caregivers. (complete - read the publication here)
Develop a video to illustrate what is PWS and how it impacts patients and caregivers (complete - watch the video here)
Apply stated-preference methods to scientifically quantify how caregivers: 1) see as the greatest unmet needs in PWS; 2) prioritize clinical outcomes associated with the disease; 3) perceive the benefits and risk of treatments of current and potential treatments for PWS 4) assess quality of life with and without effective treatments. The study will inform what constitutes meaningful benefits, what are acceptable benefit-risk tradeoffs, and document preference heterogeneity. This study is performed in collaboration with Dr J. Bridges at John Hopkins. (complete - preparing for publication)
To collect qualitative data on the experience and perspective of individuals with PWS as it relates to burden of disease and unmet medical needs. This input will inform pharmaceutical companies and regulatory agencies about how PWS impacts the individuals’ daily lives, the benefits and limitations of current therapies, and what matters most to them.