2016 was a fantastic year for PWS research.
We have new insights into how loss of the PWS genes leads to the condition’s symptoms. We have momentum in using this knowledge to find new drugs to treat PWS. We have new tools to improve the efficiency of PWS research, and we are fostering collaborations among pharmaceutical industry partners.
And we have each other. The Foundation for Prader-Willi Research is our organization. It is our way to support the research our families need and to support each other.
We offer our heartfelt gratitude to all of the friends, donors and researchers who are part of our fight.
In 2016, FPWR funded 18 research grants and set the foundation for our directed research programs. Strategic investments were made to advance our understanding of PWS, develop critical research tools, support clinical trials and advance gene therapy for PWS.
|Genetic Therapy, Drug Development|
|$81,000||Novel Hyperphagia Drug Development|
|$108,000||Small Molecule PWS Gene Reactivation|
|$86,400||PWS Gene Reactivation - Genetic Strategy|
|$86,450||Optimization of Oxytocin Therapy|
|$75,600||Organization of Neurons Important in Social Interaction|
|$84,387||MAGEL2 and Hypotonia|
|$86,400||Molecular Mechanisms of PWS|
|$108,000||Wake Promoting Effects of Oxytocin|
|$108,000||Hormone Secretion Defects|
|$108,000||Ghrelin's Role in PWS|
|$26,448||Caregiver Burden, Endpoint Development|
|$163,200||Optimization of PWS MouseModels (2)|
|$246,232||Patient Preferences,PWS Impact|
|$106,941||Clinical Features of SYS and PWS|
|$107,991||Predictors of Psychosis|
|$108,000||Improving Muscle Function with CoQ10|
|$115,116||Modified Atkins Diet Intervention|
The PWS Clinical Trials Consortium brings together academics, industry and patient advocates in a collaborative environment to help address the challenges of PWS clinical trials.
Researchers have made remarkable progress in the field of PWS research, but trials can take years to conduct and cost millions of dollars. One key to conducting efficient and effective trials is the identification and validation of reliable outcome measures and biomarkers. Unfortunately, many features of PWS, such as hyperphagia, anxiety and mental health, are difficult to quantify accurately.
One of the aims of the consortium is to improve existing outcome measures and explore novel ones. The goal is to have a suite of objective and sensitive tools to measure trial outcomes.
A second aim of the consortium is to validate the human side of the clinical trial process to ensure that the preferences and perspectives of patients and their families are accurately represented in the drug approval process. In 2016, we began a two-year project with Dr. John Bridges and his team at Johns Hopkins to incorporate patient and caregiver perspectives on the benefits and risks they are willing to take with regards to PWS treatment options.
"The PWS Clinical Trials Consortium provides credible and extensive knowledge to researchers, families and federal agencies that receive new drug applications for PWS. Agencies like the FDA cannot truly understand what families deal with in their daily lives. This vital partnership between families and researchers will further the mission of developing novel treatments for PWS that diminish the burden of the disorder and increase independence and quality of life."
- Elizabeth Roof, Vanderbilt University
The PWS Clinical Trials Consortium is a great opportunity for stakeholders from academia, industry, and patient organizations to work together at the international level with a common goal of addressing unmet needs in clinical development and increasing success of delivering new treatments for patients with PWS. Alizé Pharma is pleased and excited to be part of this consortium as an industry sponsor and looks forward to the progress of this important effort."
- Soraya Allas, Medical Director of Alizé
PCAN models are an important component of drug development used to measure both the safety and efficacy of potential drugs before they are given to people in clinical studies. FPWR is directing a collaborative network to ensure an effective screening platform is available for potential PWS drugs. Investing in pre-clinical animal models early on in the drug development pathway will save us time, and precious funding, in the long haul.
"If we can, in a way, eliminate as many drugs as possible at the pre-clinical stage [using animal models], we can increase the chances that any drug that reaches the clinical trial stage will be efficient and efficacious in patients."
- Nathalie Kayadjanian, FPWR Director of Translational Research
"PCAN is bringing together scientists from around the world to share their expertise and build a network allowing for comparison of data between models. This is a very positive and constructive way of pushing scientific research forward for PWS."
- Francoise Muscatelli, Mediterranean Institute of Neurobiology, INMED, France
In 2016, 28 FPWR-funded projects were published in the medical literature, further defining PWS and increasing our understanding of this complex disorder.
Drs. Rudolph Leibel and Lisa Cole Burnett, above, published a breakthrough discovery that suggests a deficiency of prohormone convertase, PC1, may underlie many of the symptoms of PWS.
Dr. Yossi Tam and colleagues have identified a compound that decreased hunger and induced weight loss in PWS mice.
Dr. Stefan Stamm showed that snoRNA have a newly discovered function to regulate other RNA.
Dr. Stewart Einfeld and colleagues have found that individuals with PWS have reduced levels of the neurotransmitter GABA in their brains, which may be the cause of behavioral problems such as temper outbursts, skin picking, social difficulties and depression. This suggests interventions to increase GABA levels may help these issues in PWS.
Dr. Kate Woodcock has developed a videogame prototype to improve individuals’ task switching ability and allow people with PWS to experience change with fewer temper outbursts.
The Global PWS Registry is now 1,000 patients strong and growing. The Registry builds our knowledge base, becoming an ever more valuable resource for our community.
Several FPWR- supported papers were published in the medical literature that advance our understanding of the neural circuitry regulating food intake.
In 2016, we invested $1,909,000 in 18 RESEARCH GRANTS.
FDA Listening Session: The FDA recognizes the importance of understanding the history and natural course of the disease in order to develop drugs. In 2016, the FDA invited input from FPWR on the use of our registry to collect data on PWS and invited us to participate in a webinar on Natural History Studies. FPWR was one of a small number of organizations to also be invited to the FDA for a listening session at which we were asked to express our priorities and concerns regarding drug development. Our message is summarized in a webinar and blog.
PCORI Grant / Real World Data Workshop: Patient-centered research brings the voice of the patient to clinical studies and incorporates the patient view. FPWR values putting patients first. In 2016, we were awarded funds from the Patient-Centered Outcomes Research Institute (PCORI) to drive the discussion around how to use real world data to advance clinical trials in PWS. The Real World Data Workshop held at FPWR’s annual conference brought together stakeholders to identify opportunities and challenges.
Clinical Trials Transformation Initiative (CTTI): FPWR is an active member of CTTI, a public- private partnership supported by the FDA to develop and drive adaptation of practices that will increase the quality and efficiency of clinical trials. Theresa Strong, FPWR’s director of research programs, participated in CTTI’s Mobile Clinical Trials project and helped organize a conference on Systematic Evidence Generation.
The National Organization for Rare Disorders (NORD): NORD includes hundreds of rare disease organization members. In 2016, Jessica Bohonowych, FPWR’s associate director of research programs, presented to the NORD membership on how to develop a registry, lessons learned from the development of the FPWR registry and information on the data we have collected to date.
FPWR continues to build an international community dedicated to funding the best PWS research in the world. Collaborations now include other organizations making grants directly to FPWR-supported research. We applaud their efforts on behalf of our children throughout the world.
Un Petite Pas, France $86,540
FPWR is excited to build a new partnership with the Schaaf-Yang syndrome (SYS) community. SYS occurs when a single gene in the PWS region, MAGEL2, is defective. Because MAGEL2 is one of the key genes involved in PWS as well, FPWR is committed to better understanding the function of this gene and how to treat the symptoms associated with its loss.
Schaaf-Yang Syndrome Families raised $8,295 for MAGEL2-related research in 2016.
Collaboration is at the heart of everything we do. In 2016, we brought together more than 600 scientists, health care professionals, parents and caregivers to define research questions, identify research opportunities and guide the development of targeted initiatives.
Bringing together researchers from around the globe has generated international collaborations and initiatives. In 2016, we saw an exponential increase in scientific research internationally.
Collaborative meetings promote in-depth discussion, encourage innovation across fields of expertise and allow researchers to share data long before publication.
FPWR’s annual family conference educates and empowers the PWS community. The 2016 conference, held in October in Providence, Rhode Island, welcomed more than 150 participants. The Real World Data Workshop was a highlight, bringing together patient and stakeholder partners in a co-learning environment toward the development of real world data research in PWS.
Everything FPWR does — and every dollar raised — can be traced to families affected by PWS. In 2016, families raised money and awareness by throwing galas and golf tournaments, organizing One SMALL Step walks and other community events.
We remain grateful to all the families and friends who generously support the work of FPWR.
DC Golf and Tennis Tournament
$150,846 / September - Alexandria, VA
Dragon Dash of Castle Hills
$22,485 / November - Lewisville, TX
Fighter Jhett Classic
$13,905 / May - Palestine, IN
Harvesting Hope 5K
$47,144 / November - Stapleton, CO
Jack’s Party on the Patio
$21,011 / June - Frazier, MI
Live Life FULL Gala, Chicago
$64,056 / April - Philadelphia, PA
Live Life FULL Gala, Philadelphia
$158,362 / April - Philadelphia, PA
Live Life FULL Gala, Texas
$157,735 / October - Houston, TX
New York City Marathon: Team FPWR
$151,366 / November - NYC, NY
One SMALL Step, Atlanta
$13,352 / November - Atlanta, GA
One SMALL Step, Avon
$32,309 / September - Avon, IN
One SMALL Step, Bridgeton
$14,050 / May - Bridgeton, MO
One SMALL Step, Clear Brook
$3,470 / August - Clear Brook, VA
One SMALL Step, Columbus
$34,123 / August - Columbus, OH
One SMALL Step, Crestview
$3,604 / December - Crestview, FL
One SMALL Step, Deerfield
$31,123 / September - Deerfield, IL
One SMALL Step, Dripping Springs
$19,870 / Virtual Event
One SMALL Step, Hillsboro
$20,039 / July - Hillsboro, OR
One SMALL Step, Houma
$12,184 / May - Houma, LA
One SMALL Step, Jacksonville
$315 / November - Jacksonville, FL
One SMALL Step, Jeffersonville
$2,280 / September - Jeffersonville, IN
One SMALL Step, Johnston
$30,100 / September - Johnston, RI
One SMALL Step, Kingfisher
$5,110 / Virtual Event
One SMALL Step, Long Island
$108,505 / September - Long Island, NY
One SMALL Step, Madison
$730 / May - Madison, WI
One SMALL Step, Mission Viejo
$36,560 / October - Mission Viejo, CA
One SMALL Step, Northborough
$16,030 / March - Virtual Event
One SMALL Step, Omaha
$12,935 / May - Omaha, NE
One SMALL Step, San Antonio
$89,859 / November - San Antonio, TX
One SMALL Step, San Diego
$17,310 / October - San Diego, CA
One SMALL Step, Santa Monica
$40,389 / November - Santa Monica, CA
One SMALL Step, Sauquoit
$6,648 / August - Sauquoit, NY
One SMALL Step, Silver Creek
$16,890 / July - Silver Creek, NY
One SMALL Step, Spartanburg
$34,761 / September - Spartanburg, SC
One SMALL Step, Staten Island
$15,861 / August - Staten Island, NY
One SMALL Step, Virtual 5K
$2,093 / Year Round - Virtual Event
One SMALL Step, Virtual Walk
$125,975 / Year Round - Virtual Event
One SMALL Step, Vancouver
$25,666 / May - Vancouver, WA
One SMALL Step, Waldorf
$11,608 / August - Waldorf, MD
One SMALL Step, Washington, DC
$47,508 / June - Washington, DC
The Foundation for Prader- Willi Research is extremely conscientious with the donations entrusted to our care. In 2016, 81% of every dollar spent went directly to research programs. As our most dedicated friends and supporters, you make our work possible. Thank you for all that you do!