Research

The key to Ellie's future is research.  The Foundation for Prader-Willi Research was founded in 2003 by a group of parents who realized it was up to them to foster research and create better lives for their children with PWS, many of which have helped shape Ellie's current treatments and therapies.  "To date, the FPWR has committed more than $3,000,000 to support PWS-related research.  More than sixty research projects have been funded since 2003, covering these topics:

• the genetics and pathophysiology of PWS
• the development of mouse models of PWS
• hunger, obesity, and reward circuits of the brain
• the development of new therapies for PWS
• understanding sleep disturbances in PWS
• improving academic and learning skills for children with PWS

Research funded by FPWR has been published in top medical journals, including Nature Neuroscience, Proceedings of the National Academy of Sciences, Molecular Cell, PLoS One, Endocrinology, and BMC Genomics" (http://www.fpwr.org/about-foundation-prader-willi-research/).

Looking back, thankfully due to research, and tireless efforts by PWS families, medical professionals, scientists and organizations like FPWR and PWSA USA, individuals are able to benefit from treatment like HGH (Human Growth Hormone).  As we move into 2014, it is truly an exciting year for PWS research.  Many clinical trials will be taking place, meaning that their have been drugs identified that might be of benefit to individuals living with PWS!  Below are some of the exciting clinical trials that are on the horizon or are in process:

"Essentialis has received orphan drug designation from the FDA for DCCR (diazoxide choline controlled release)! This designation will help expedite some of the clinical trial process as researchers work to evaluate effectiveness and safety of the drug. We are hopeful that clinical trial data will show positive results, and much work still needs to be done. For more information on the current Phase I clinical trial including how to participate, please visit:  http://www.fpwr.org/clinical-study-of-diazoxide-choline-controlled-release-tablet-dccr-in-patients-with-prader-willi-syndrome/

"Zafgen announced in November results of a completed Phase 2 study of their obesity drug, Beloranib, in severely obese patients (non-pws).  Findings from the study demonstrated significant weight loss in 147 obese individuals over a 12 weeks of treatment.  More recently, Zafgen shared results from a small trial involving 17 PWS adults. In the trial, the drug reduced weight and body fat as well as decreased the urge to food seek. Results from the Beloranib study have been reported in both the New York Times and Forbes magazine" (http://www.fpwr.org/zafgens-research-into-weight-loss-drug-beloranib-looks-promising/).


Unfortunately, there is still not a treatment for the extreme hunger that will dictate so much of Ellie's life.  As we have become more involved with the Foundation for Prader-Willi Research and have seen the plans they have in place, we are confident and hopeful that a cure could be found in Ellie's lifetime!

Research...and the future.  It goes hand in hand, and doesn't seem so daunting when I read the great strides we are making.  David and I are truly grateful and indebted to the scientists, researchers, professionals, and organizations like FPWR...thank you from the bottom of our hearts for working to give our daughter the best life possible.