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Creating action with information: The Rare Disease Community

Explore the advancements, collaborations, and future therapies in PKU research. Learn about legislative challenges, gene therapy, current treatments, and patient advocacy impacting the rare disease community.

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Creating action with information: The Rare Disease Community

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  1. Creating action with information: The Rare Disease Community Cary O. Harding, MD Department of Molecular & Medical Genetics

  2. Disclosures • BioMarin Corporation • Funds for participation in clinical trials • Sapropterin dihydrochloride • rAvPAL-PEG • National PKU Alliance • Funds for PKU gene therapy research

  3. Take home messages • The future of PKU research and treatment is very promising. • The barriers to progress are shared by many rare disorders. • Collaborative efforts are critical to maintaining progress. • Patient advocacy groups (eg. NPKUA) have immense impact.

  4. TEAMWORK • http://photos.presstelegram.com/2012/07/photos-cycling-at-the-london-2012-olympics-july-28/ - 6

  5. Outline • Future treatments • Current therapy • Legislative and regulatory issues

  6. Future therapy • rAvPAL-PEG • Novel large neutral amino acid therapies • Probiotic therapy • Hepatocyte transplantation • Gene therapy

  7. Collaboration is essential! • rAvPAL-PEG • Proof of concept in academic center • McGill University • Further refinement in private foundation lab • Scripps Institute • Preclinical validation in an academic center with pharmaceutical company support • University of Florida • Clinical trials in multiple centers • BioMarin

  8. rAvPAL-PEG Phase III • More clinical sites • Proof of efficacy • Investigate self-administration • Evaluate side effects • Skin rashes • Joint swelling • Monitor for adverse events

  9. Timeline and funding • First published report – 1999 • Phase 3 study – 2013 • FDA approval - ?2016 • Funding • Government grant • Private foundation money • Pharmaceutical company

  10. Gene therapy • Preclinical studies • Develop preclinical vector • Proof of concept • Refine vector • Investigational new drug application • Production of vector in GMP facility • Large scale pharmacologic studies • First in human Phase 1 trial

  11. Acknowledgements • Grompe Lab - OHSU • Markus Grompe • Nick Morcinek • Zhongya Wang • Laura Roy • Koeberl lab – Duke • Dwight Koeberl • Andy Bird • Thöny lab – Zurich • Beat Thöny • Hiu Man Viecelli • Alex Rebuffat • Harding lab – OHSU • Shelley Winn • Katie Cobb • Kevin Watanabe-Smith • Lindsey Stetson • Baoyu Lin • Gloria Baca • Kelly Hamman • Funding • NPKUA • NIH

  12. Status of current therapy • ? Nutritional adequacy of current dietary therapy • Intact protein vs. free amino acids • Micronutrients • Bone effects • Neuropsychologic outcomes • Pathophysiology of PKU

  13. Needed investigations • Animal models • How does Phe affect the brain? • What dietary variables affect physical outcome? • Human investigations • Neuropsychologic and imaging studies • Effects of pharmacologic therapy • Long term follow up

  14. Recent NIH/FDA efforts • National Center for Advancing Translational Studies (NCATS) • Office of Rare Diseases Research • FDA Office of Orphan Products Development • Meetings in 2011 and 2012 • Further research on medical foods • Research needs specifically for PKU

  15. Rare Disorders Consortia • NIH funded with additional philanthropy • Multisite collaborative clinical research • Longitudinal natural history studies • Prospective research studies • Multiple collaborators • Academic centers • NIH • Patient advocacy groups • Pharmaceutical companies

  16. Urea Cycle Disorders Consortium • 16 centers – Two in Europe • Longitudinal study • Effectiveness of current therapy • Long term outcomes • Liver disease • Liver tumors • Novel pharmaceutical therapies • NUCDF intimately involved

  17. Newborn Screening Translational Research Network • National database • Long term outcome of all disorders detected by newborn screening

  18. Legislative efforts • Uniform availability and funding for medical foods • Some states have legislative mandates • Medical Foods Equity Act • Insurance exchanges under Obamacare • Defining minimal benefit package for participating insurance plans

  19. Conclusions • The future of PKU treatment and research is promising! • Collaboration essential • Clinical centers • Government agencies • Private philanthropic foundations • Pharmaceutical companies • Patient advocacy organizations

  20. YOU! The critical catalyst? NPKUA

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