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Global Research Map CBS Deficient Homocystinuria

Global Research Map CBS Deficient Homocystinuria. HCU Patient/Family Meeting April 21-22, 2018 Margie McGlynn President, HCU Network America. Project Sponsored by HCU Network America and HCU Network Australia, with the aid of a consultant from Cambridge BioStrategies

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Global Research Map CBS Deficient Homocystinuria

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  1. Global Research MapCBS Deficient Homocystinuria HCU Patient/Family Meeting April 21-22, 2018 Margie McGlynn President, HCU Network America

  2. Project Sponsored by HCU Network America and HCU Network Australia, with the aid of a consultant from Cambridge BioStrategies • Relevant Disclosures: In addition to my role as President of HCU Network America, I also: • Serve on the board of Orphan Technologies, a pharmaceutical company with a product in development for HCU. I donate board fees to HCU Network America and continue to fund other research projects for HCU • Oversee the Hempling Foundation for Homocystinuria Research, a fund I established in honor of my sisters who passed away from HCU. This fund has supported some of the research projects included in this report Global Research map for CBS Deficient Homocystinuria

  3. Research Map • Identify the therapeutic approaches under investigation for HCU with focus on cystathionine beta-synthase (CBS) deficiency • Research Strategy • Highlight key priorities for future research for HCU due to CBS deficiency • Guide prioritization and evaluation of research grants funded through HCU patient groups and community Project Goal

  4. The research map was developed by a consultant based on information available in the public domain and provided by academic and industry researchers • Interviews with global researchers and clinicians served to expand and validate the research map and to provide expert input on the research strategy Approach

  5. Expert Input

  6. Methionine S-adenosyl Methionine(SAM) DiMeGly S-adenosyl homocysteine Betaine Homocysteine Adenosine Serine CBS Cystathionine Cysteine HCU and CBS Enzyme: Pathway Taurine, Pyruvate and Sulfate

  7. What novel approaches are being studied for HCU?

  8. Alternative Enzyme Metabolic Pathway Modification Methionine DiMeGly S-adenosyl Methionine(SAM) S-adenosyl homocysteine Betaine Homocysteine Adenosine Alternative Enzyme Serine CBS Cystathionine Enzyme Replacement Therapy Gene Therapy Protein (Enzyme) Activation Cysteine HCU and CBS Enzyme: Potential New Therapies Metabolic Pathway Modification Taurine, Pyruvate and Sulfate

  9. 1. Enzyme Replacement Therapy(ERT)Potential strengths and weaknesses *Based on input from experts

  10. 2. Gene TherapyPotential strengths and weaknesses *Based on input from experts

  11. 3. Alternative EnzymesPotential strengths and weaknesses *Based on input from experts

  12. 3. Alternative EnzymesPotential strengths and weaknesses *Based on input from experts

  13. 4. CBS protein activation Potential strengths and weaknesses *Based on input from experts

  14. 4. CBS protein activation Potential strengths and weaknesses *Based on input from experts

  15. 4. CBS protein activation Potential strengths and weaknesses *Based on input from experts

  16. 5. Metabolic Pathway Modification Potential strengths and weaknesses *Based on input from experts

  17. Methionine Erymethionase Sulfur AA DiMeGly S-adenosyl Methionine(SAM) S-adenosyl homocysteine Betaine Homocysteine Adenosine Homocysteinase Serine CBS Cystathionine ERT Gene Therapy Chaperones Proteasome Inhibitors Stabilizer CBS ReglDomain Cysteine HCU and CBS Enzyme: Potential New Therapies Taurine Taurine, Pyruvate and Sulfate

  18. Expert guidance on key priorities for future research & patient advocacy

  19. Convened Scientific Advisory Board (SAB) to review research map and strategy and advise on key priorities for funding: Sept 2017 • Improved approach to Newborn Screening • Novel approaches to treatment to reduce dietary restrictions • Issued call for “Expressions of Interest” to support key priorities: Nov 2017 • Reviewed with SAB and requested full proposals from 2 applicants: March 2018 • Will review full proposals with SAB and award grants of $40 or $50k from HCU Network America (via Hempling Foundation) and HCU Network Australia: June 2018 Additional steps planned: • Increase fund raising through HCU patient groups to enable additional support of important research • Continue to liase with industry and academia to support increased research for homocystinurias • Expand research map/strategy to include other causes of HCU HCU Global Grants Program

  20. And to my sisters for inspiration: Judy Hempling Susie Hempling Thank You To…

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