The weekend of May 30th proved to be exciting and interesting at the Foundation for Prader-Willi Research Canada Conference in Calgary, Alberta. Parents of PWS children, PWS adults, doctors, researchers and students alike gathered to appropriately engage in the theme of the conference, “Sharing Solutions”.
After some warm opening remarks by Master of Ceremonies Brooke Gibson, and Conference Chair Tanya Johnson, Dr. Rachel Wevrick, professor of medical genetics at the University of Alberta, presented some up and coming opportunities in PWS research. One topic of particular interest and high importance was the idea of reactivation of the PWS locus, an area of research that FPWR Canada is invested in and is continuing to fund. The main idea of this research is that if PWS genes are found to be capable of reactivation, the next step would be to reactivate these genes at appropriate levels. This particular area of research is still in preclinical trials.
Another area of research looked at by Dr. Wevrick was of appetite and obesity. The ever-baffling question, “Why do children switch from apparently having little appetite and failure to thrive to having an overwhelming drive to eat in late childhood and adulthood?” was addressed. The ideal answer to this question seeks to understand why and how weight gain begins in PWS patients. Numerous pathways of exploration were discussed, including the use of diazoxide and RM-493. Investigation of the use of diazoxide and RM-493 focus on the idea of the body’s system of “brakes” and “accelerators” that control short-term appetite and long term weight management. In essence, trials with RM-493 investigate the “brake” function and trials with diazoxide investigate the “accelerate” function. Both therapeutics methods are still in stages of clinical trials.
Marc Landry, an occupational therapist based in Vancouver, BC, presented some approaches to understanding sensory processing in children. Managing the occurrence and impact of certain negative behaviours in PWS children, such as skin picking, was addressed. Landry explained that behaviour management must be focused on decreasing anxiety and boredom, while eliminating opportunities for picking. He discussed how there are many different regulatory strategies that worked for different types of children. For example, a child that has low sensory input may seem disinterested in schoolwork or surroundings when forced to sit still, thus stimulation with cold water, sour candy or mints, or playing with small fidget items could combat this sensory issue resulting in a more alert and engaged child. A child that has high sensory input may be overly sensitive to tags on clothing, bright lights or loud sounds. Landy also stressed the need to understand a child’s sensory “engine”: a child’s self-perception of how they are feeling. In better understanding his or her own emotions, the child can seek help to regulate or avoid the impact of negative behaviours.
One of the most exciting highlights of the conference was when Keegan Johnson, Chair of FPWR Canada and Dr. Jessica Bohonowych, Associate Director of Research Programs of FPWR Canada, introduced the new Global PWS Registry. The purpose of the registry is to develop a comprehensive database of individuals with PWS. Benefits from this registry would be to better understand the full spectrum of PWS characteristics, expedite the completion of clinical trials and most importantly, to improve the lives of those affected by PWS.
Having a database as such would also be helpful in determining the areas of needed research and treatments. Data in the registry is secure, and privacy of individuals is protected as the data is stripped of individual identity and used for research purposes. The PWS registry seeks to increase community participation to help answer the many questions we have about PWS. For more information, or to register, visit www.pwsregistry.org.