Thank You Conference Sponsors
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1 Welcome
2 Thank You Conference Sponsors Presenting Sponsor BioMarin Gold Nutricia Metabolics Synlogic
3 Thank You Conference Sponsors Kids Zone Anonymous Silver Sponsor Applied Pharma Research Cambrooke Therapeutics The Michaux Family Foundation for PKU Vitaflo
4 Thank You Conference Sponsors Bronze Abbott Nutrition Homology Medicines, Inc. PKU Perspectives
5 Conference Committee Steve Hunt, Co-Chair Kristen Vanags, Co-Chair Daniel Almeida Christine S. Brown Kevin Brown Lindsey Coltraine Elizabeth Cottrell Jeff Cummings Casey Earle Jamie Hall Adele Hunt Cynthia Hunt Joanne Hunt Cathy Lorimer John Lorimer Brenda Parker Felicia Penrose Michelle Pernsteiner Shiela Ryan Earl Shaddix Erica Shaddix Katrina Swenson Christina Yang
6 Board of Directors Amy Oliver, JD, President, Intermountain PKU and Allied Disorders Dick Michaux, Vice President, Michaux Family Foundation for PKU Jerry Elkins, Treasurer, Member at Large Rhonda Connolly, Secretary, Children s PKU Network Shane Austerman, Iowa PKU Foundation Heather Bomar, Tennessee PKU Foundation Elena Caro, PKU Organization of Illinois Lester Clark, Member at Large Nicole Dreyer-Gavin, New England Connection for PKU and Allied Disorders Erin Doetsch, Michigan PKU and Allied Disorders Mike Franklin, Indiana PKU and Allied Disorders Association Rodney Howell, Member at Large Neil James, Member at Large Melinda Millard, Maryland Alliance of PKU Families Suyash Prasad, MD, Member at Large John Pytel, California Coalition for PKU and Allied Disorders Hollon Stevens, PKU Pursuits, Inc. Kristen Vanags, Georgia PKU Connect Jessy Widmer, Mid-Atlantic Connection for PKU and Allied Disorders Joe Williams, Minnesota PKU Foundation
7 NPKUA Staff Christine Brown, Executive Director Eileen Blakely, MS, RD, Registry Coordinator Lex Cowsert, PhD, Director of Research and Development Brenda Parker, Administrative Assistant Michelle Pernsteiner, Event and Development Assistant Katrina Swenson, Project and Communication Assistant
8 Who We Are Attendees 623 people 152 with PKU 34 states 8 countries
9 Housekeeping Restrooms Men s to the right out of ballroom and the women s is directly across from men s Professional Photographer and Selfie Photo Booth Professional Photos Exhibitor Area Selfie Photo Booth Exhibitor Area Advocacy and PKU Patient Registry Please visit the Advocacy and PKU Patient Registry Booth in the Grand Ballroom Foyer Exhibitor Area
10 Housekeeping Breakfast Saturday Please be prompt for plated breakfast at 8:00 am Kids Zone Please pick up children immediately end of sessions There is no complimentary wi-fi in the meeting rooms.
11 To improve the lives of individuals and families with PKU and pursue a cure.
12 10 Years
13 2008
14
15 NPKUA: 10 Years of Progress
16 Trusted Source of Information Website: 59,000 page views in ,000+ page views in 2017 E-Newsletter 1,472 New Parent Guide My PKU Binder Returning to Diet Booklet PKU and the Brain
17 PKU is Heard at the Federal Level 5 advocacy pushes on Capitol Hill: 397 meetings in Congressional offices Establishment of PKU Awareness Day on Dec NIH Scientific Review Conference for PKU FDA: Testified at a patient-focused drug development meeting in 2014 and in 2017 brought patients to share their stories as part of the approval process of Palynziq NIH Advocacy Secretary s Advisory Council on Heritable Disorders in Newborns and Children
18 PKU is Heard at the Federal Level Military Families Now Have Coverage for Medical Foods through TriCare with no age limits Patients and Providers for Medical Nutrition Equity Coalition S 1194 introduced by Senator Casey (D-PA) and Senator Grassley (R-IA) HR 2587 introduced by Rep. Delaney (D-MD) and Rep. Herrera Beutler (R-FL)
19 Medical Nutrition Equity Act Video
20 Support Insurance Coaches Program: 211 people Emergency Food Assistance to 160 Pregnant Women 67 women have entered Maternal PKU Mentoring Program PKU Adult Program 16 affiliate organizations provide support at the local level
21 Education 1,611 different conference attendees!
22 Scientific Advisory Board In 2009 established to review and recommend research proposals for funding to accelerate research Since then, $2,750,875 invested in research to better understand PKU and drive PKU research forward
23 Scientific Advisory Board Dr. Cary Harding, Chair, Oregon Health and Science University Dr. Jessica Cohen, BioMarin Dr. Ira Fox, University of Pittsburgh School of Medicine Dr. Thomas Franklin Dr. Bryan Hainline, Indiana University Dr. Rodney Howell, University of Miami Dr. Harvey Levy, Children s Hospital Boston Dr. Uta Lichter-Konecki, St. Christopher s Hospital in Philadelphia Dr. Erin MacLeod, Children s National Hospital in DC Kathryn Moseley, RD, University of Southern CA Dr. Denise Ney, University of Wisconsin Dr. Christineh N. Sarkissian, Rubius Dr. Ray Stevens, University of Southern CA Dr. Francjan VanSpronson, University of Groningen, Netherlands Dr. Desiree White, Washington University
24 Research Investment Success Our investment in cellular therapy lead to the first US patient to receive a liver cell transplant as a possible cure for PKU Our support of bone health research led to additional funding from the FDA for further clinical study
25 Research Investment Success Our support in gene therapy research leads to an additional $1.2 million grant from the National Institute of Health (NIH) Home Phe Monitor Challenge has accelerated technology development
26 Research Investment Success Our funding of research on white and gray matter in the brain has lead to new scientific knowledge Our support of post doc fellowships helped grow the next generation of talent
27 2015 Nashville 2016 Boston Seattle 2017 Buffalo Creighton Farms Invitational 2018 Denver Creighton Farms Invitational New York City 2019 Philadelphia
28 Mission: To advance the science of PKU by funding the most promising peer-reviewed research that will lead to new therapy discoveries and a cure. Goals: Have at least one new treatment therapy in FDA clinical trials by 2019 Make at least two substantial grants each year to projects that focus on new drug development, new treatments, and/or a cure Fund fellow placements in labs where additional support will speed up the development process Fund the most critical projects that have the potential to raise the quality of life of PKU patients on a day-to-day basis, so they can live the best lives possible $2,022,500 NET INCOME
29 Research Strategy Patient Registry Home Phe Monitor New NPKUA Position: Director of Research Development
30 Research Strategy Build Infrastructure Support to All Therapeutic Approaches Obtain Regulatory Agreement on Clinically Meaningful and Patient- Centered Endpoints in Adults Clinical Endpoints: blood phe and executive function/neurocognitive improvement Challenge: High phe levels affect people in different ways and no instrument(s) accurately measures symptoms in all adults Goal: To develop a framework to determine what meaningful, patientcentered and scientifically based endpoints can be considered and accepted by the FDA in future clinical trials for adults.
31 Seattle Lifting the Limits Video
32 Help Us Find a Cure The story of Asbjørn Følling We will not stop Make an investment to find better treatments and a cure
33 Save the Date 2020 Conference July 9-12, 2020 Hilton Vancouver, WA
34 Thank you!
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