Friday, July 11

Welcome and NPKUA Update
Amy Oliver, JD and Christine S. Brown
Amy Oliver, NPKUA Vice President and Christine S. Brown, NPKUA Executive Director welcome attendees to the 2014 National PKU Alliance Conference in Salt Lake City, UT
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Opening Keynote: The Power of Rare Disease Community
Ronald J. Bartek, Friedreich's Ataxia Research Alliance
Ron Bartek founded the Friedreich's Ataxia Alliance with his wife Raychel after their son, Keith, was diagnosed with this rare disease at age 11 to forge a research alliance that would achieve treatments and a cure for Friedreich's ataxia. The alliance includes research scientists from around the world and is engaged in full-court press to slow, stop and reverse the damage done by Friedreich's ataxia.
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Medical and Dietary Guidelines for PKU
Cary Harding, MD, FACMG and Kathleen Huntington, RD, LD, Oregon Health and Sciences University
Earlier this year, the first-ever specific medical and dietary guidelines for the treatment of PKU were released by the American College of Medical Genetics and Genomics and Genetic metabolic Dieticians International. The guidelines represent a tremendous step forward in ensuring that all patients receive the highest quality of care andd treatment in the management of their PKU. This session focused on the key recommendations of the guidelines and what they mean for you.
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The Effects of PKU on Gray Matter Structures in the Brain
Dr. Shawn Christ, University of Missouri
The most widely-reported neurologic finding in individuals with early-treated PKU is abnormality in the white matter connections of the brain. In contrast, much less is known regarding the impact of early-treated PKU on gray matter structures in the brain. The presentations highlighted recent findings on PKU neuroimaging techniques to examine the effects on cortical gray matter and other brain structures such as basal ganglia and cerebellum.
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Artificial Organ System by Encapsulating HegG2 Cells
Dr. Donna Santillan, University of Iowa Hospitals and Clinics
The aim of this research is to find a long-term, non-dietary method to treat PKU. Dr. Santillan's work focuses on a therapy to prevent maternal PKU syndrome as well as inherent differences in effectiveness of therapy between males and females. The research  utilizes microspheres to encapsulate liver cells, protecting them from the immune system. The cells then act as an artificial organ to process phenylalanine. She tests this artificial organ system using the PAHenu2mouse model of PKU and has found that this  system can reduce phenylalanine and restore differences in metabolic activities in PKU affected mice.
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Non-Physiological Amino Acid (NPAA) Therapy in Phenylketornuria
Dr. K Michael Gibson, Washington State University
Dr. Gibson's research examines the ability of non-physiological amino acids (NPAAs) to lower brain phe levels and thereby restore brain amino acid equilibrium. The CPAAs inhibit the shuttle system that move large neutral amino acids (including phenylalanine) from the blood into the brain. Dr. Gibson's experiments examined the capacity of NPAAs to maximally restrict entry of phenylalanine into the brain of PKU mice, while minimally altering the entry of other large neutral amino acids. Successful outcomes in these experiments may lead to a totally novel therapy for PKU.
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Liberalization of Dietary Restrictions: LNAA Supplementation in PKU Mice
Dr. Eddy A. van der Zee, University of Groningen
LNAA supplementation may liberalize the dietary restrictions for PKU patients. Elevated blood phenylalanine concentrations correlate with cognitive dysfunction in untreated PKU. The transport of phenylalanine from blood to brain via transporter proteins is assumed to play a central role. The phenylalanine transporter also facilitates (in a competitive way) transport fo other large neutral amino acids (LNAA). Hence, supplementation of LNAA other than phenylalanine may shift amino acid transport away from phenylalanine and may restore a healthy balance between phenylalanine and other LNAA in brain. Dr. fan der Zee's research will therefore investigate the effects of LNAA supplementation in the brain of PKU mice.
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Saturday, July 12


NPKUA Home Phe Monitor Project
Dr. Tom Franklin, NPKUA Scientific Advisory Board Chair
The NPKUA partnered with InnoCentive, Inc. to present a challenge across the world to the international scientific community for the development of a Home Phe Monitor. We initiated a Multi-Phase Challenge in October 2013 and by the close of the Phase 1 Challenge, we had received 128 proposed solutions from 7 different countries. A panel of 15 scienfific experts from around teh world evaluated the proposed solution and selected eight initial solvers to receive funds to enter Phase II of a more detailed proff of concept. An update will be given on the progress to date.

The Plan is to award $80,000 to eight solvers ($10,000 each) for the PHase 1 Theoretical Challenge to give more detailed solution for Phase II. Out of those eight, we will award $150,000 to three solvers ($50,000 each) in the proof of principle/concept 3rd Phase to test their solution using PKU patients' blood for phe levels while demonstrating sensitivity, precision, and accuracy of the technique. Out of those three, we will award $200,000 to ne solver in Phase 4 to get their solution into a manufacturable prototype for which we will then negotiate to find the appropriate manufacturer and marketer for commercialization of the Home Phe Monitor hopefully by the end of 2nd Quarter 2015.
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Report of NPKUA Scientific Exchange Session
Cary Harding, MD, FACMG, Oregon Health and Scientific University and Co-Chair, Scientific Exchange Session
Dr. Harding will report on the previous days' International Scientific Exchange Session that brought together leading experts in the fields of liver cell transplantation, gene therapy and PKU brain function in an effort to increase the knowledge base for understanding PKU and to explore improved treatments and potential cures for the disorder. In the end, the goal of the session was to encourage collaboration and help inform the NPKUA's current research and fellowship programs.
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Maximizing Nutrition in the PKU Diet
Sharon Ernst, MPH, RD, University of Utah
The presentation will focus on what makes up a healthy diet and what's different about the PKU diet. This session will also talk about carbohydrates, fats, protein, vitamins, minerals, phytochemicals and other nutrients. Lastly, the session will look at PKU calorie sources and how to make healthy food choices.
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Saturday, July 12 (continued)

Medical Food Coverage and Advocacy
Amy Oliver, JD and Kristen Vanags
Learn how you can become an advocate for yourself, your child, or other family member with PKU. Discuss coverage of medical foods by insurance companies under the Affordable Care Act, and how current state mandates play a role. Talk about how medical foods are covered by state and federal programs, such as Medicare, Medicaid, CHIP, and Tricare. Learn more about the NPKUA’s efforts to improve access to medical foods, including the Medical Foods Equity Act currently pending in Congress.
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PKU in the School Years
Ashley Vollenweider, NP, University of Utah, Krista Viau, RD, University of Utah and Jon & Melissa Baker, PKU Parents
Topics discussed in this workshop include PKU and lunchtime, fostering self-management skills, and communicating with school personnel. As children enter school age years, meals away from home become more frequent. We would like to help you and your child, prepare for these changes by discussing how to plan ahead for meals and snacks, how to teach your child to choose appropriate foods away from home, and incorporate formula at school. We will also discuss age appropriate development of self-management skills. Finally,we will review how to effectively communicate your child’s dietary and other medical needs with school personnel.
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Insurance Coverage Workshop
Raenette Franco, Certified Billing Specialists, Compassion Works 
Compassion Works Medical has a special mission to change the lives of the rare genetic disease community by supporting a genuine helping hand with insurance coverage and patient advocacy counseling. Over the past years working at Applied Nutrition and now Compassion Works Medical, Raenette has built strong relationships with dietitians and families across the board to help those people find a way to afford and stay on diet. We don't take NO for an answer. Compassion Works has partnered with the NPKUA to develop an Insurance Coaches Program to assist adults and families with insurance issues.
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Creating PKU Awareness and Events in Your Community
Heather Bomar, Bonnie Brady, Sherry Markwell, Ginny Michaux and Jeb Haber
This panel will provide helpful tools and experiences in planning local events to raise money and awareness for PKU. Be prepared to be inspired by the ease of planning this type of event in your town or with your local organization. There will be easy steps to follow on how to execute a walk. The panel will also discuss a new communications and branding initiative by the NPKUA to raise funds in off conference years based on the incredible success of Tuxes for Tia, a local gala in Washington, DC that raised $1.1 million for PKU.
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Maternal PKU - Challenges in Doing What We Know is Important
Anne Cunningham, MS, RD, LDN, Tulane University of Medicine
There is convincing science to confirm what we all know – low blood phe during pregnancy is essential for the birth of a healthy baby. But still many
children are born with the serious consequences caused by exposure to high maternal blood phe during pregnancy. Unexpected pregnancies in women who are “off diet” contribute to this, and so does the difficulty of returning to a treatment that lowers blood phe enough to prevent damage to the baby. During this session we will talk about the importance of good blood phe during pregnancy, and how to meet the challenges faced in achieving that.
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How to Make the New PKU Guidelines Work for You
David Dimmock, MD, Children's Hospital of Wisconsin and Kathleen Huntington, RD, LD, Oregon Health and Sciences University
This breakout session will follow-up on the general session on the new medical and dietary guidelines recently released for the treatment of PKU. This breakout will go into more detail on the recommendations and discuss ways to use the guidelines to get the most out of your clinic visits.
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Cooking for the PKU Diet
Sara Tye, Kevin Brown and Lynn Paolella
Cooking for the PKU Diet does not have to be complicated! This session will discuss ideas for simple and quick mid-week meals, “standby convenience” meals that help make meals less stressful and recipes that work for the entire family. The session will also discuss how applying proper cooking techniques can elevate all low protein foods in appearance and how to involve your children in the kitchen. Create food that looks good, tastes good and smells good.
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Sunday, July 13



Liver Cell Transplantation
Kristen Skvorak, PhD, University of Pittsburgh
Rather than transplant whole liver (expensive, invasive, organ shortage, lifelong immunosuppression), healthy cells could instead be infused into a patient’s diseased liver providing the missing enzyme to improve symptoms. Initial studies with liver cells transplanted into a MSUD and PKU mouse model were very promising, and so investigation with human placental stem cells (plentiful, low immune response by patient so may not require immunosuppression) began. Placental cell transplant in MSUD and PKU mice decreased amino acid toxicity in blood and brain and restored balance, and improved neurotransmitter levels. Our major project goal is to bring this therapy to reality clinically.
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Genetically Engineered Probiotics For the Treatment of PKU
Katherine Deming, PhD, Candidate, Department of Biological Sciences, University of North Texas, Denton, TX
The goals in creating the genetically engineered probiotic organism as a treatment for PKU are to 1) use a genetically engineered probiotic bacteria, to catabolize (break down) phe (phenylalanine) in-vitro and 2) use the novel probiotic in the PAHenu2 mouse model in order to determine the efficacy of this new construct in-vivo. Ideally, by reducing the amount of phe that can enter the blood from food, the toxic build up of phe in the blood will be reduced. This may lead to a treatment that allows for a more “normal” diet in PKU patients while keeping phe levels low.
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Effect of PKU on the Gut Microbiome and Implications for Probiotic Therapy
Michael S. Allen, PhD, Associate Professor, UNT Health Science Center, Department of Forensic and Investigative Genetics, Fort Worth, TX
Humans harbor a complex assemblage of microorganisms within their intestines referred to as the “microbiome”. Our research into the gut
microbiome of a mouse-model of PKU fed a standard diet revealed the presence of a group of bacteria not found in wild-type mice. We hypothesize that these bacteria are specifically using phenylalanine and its metabolites from the host. If so, these bacteria might exert a protective effect by degrading phenylalanine in the intestine and buffering its concentration in the blood. Application of such bacteria as probiotics could protect against excess phenylalanine in the diet, and possibly enable easing of dietary restrictions. Our research aims to test this hypothesis, as well as identify similar bacteria in the human gut with probiotic potential.
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