Our Journey Through The Valley of Death. How Our Family Started A Virtual BioTech and Personalized Medicine Model To Save Our Twins Lives

Transcription

1 Our Journey Through The Valley of Death How Our Family Started A Virtual BioTech and Personalized Medicine Model To Save Our Twins Lives

2 Rare Disease Advocists Reside in Reno, Nevada Former careers in Silicon Valley working with leading technology start-ups Chris public relations Hugh product marketing No scientific backgrounds Advocists : Advocates + Activists

3 Why We Are Here? blessed with identical twins, Addi and Cassi, medical odyssey with twins begins twins diagnosed with Niemann Pick Type C disease Ultra rare and fatal genetic cholesterol condition 500 known cases worldwide Childhood Alzheimer s

4 Shock #1 - Rare Disease Facts 7,000 identified Rare Diseases 30 million Americans suffer from Rare Disease = 1 in 10 people or 10% of U.S. population Similar statistics in EU, estimated 250+ million people globally Conditions are chronic, life-threatening, fatal Large % are children; up to 50% Approximately 80% of rare diseases are not acquired but inherited from gene defects Affect fewer than 200,000 people per disease state but some cases in low double digits

5 Shock #2 - Drug Development Crisis Drug development has been virtually non-existent for thousands of rare diseases; pharma perceives niche market From (26 years), FDA granted 2,112 orphan drug designations but only 347 market approvals (16%) No hope is a common theme for tens of millions of people with Rare Diseases Major healthcare crisis 95 Percent of Rare Diseases Have No FDA Approved Drug Treatments Kakkis Foundation

6 Shock #3 No Drug Pipeline for NPC Research happening in NPC, no viable compounds in pipeline, no translational compounds One off-label drug: Miglustat $220,000 dollars per year Not working well in young children with advancing disease Today- 5+ years x $220,000 = 1.1 million dollars = 37 minivans

7 Shock #4 - Cyclodextrin Non toxic sugar compound discovered by accident Key ingredient in Febreze, food additive, GRAS in Europe/Japan Extracts cholesterol from cell, never considered API Learned Cyclodextrin already going into humans Johnson & Johnson extensive toxicity data Told by experts that cyclodextrin was many years from ever going into children Would never get FDA or IRB approval or insurance help Lorenzo s Oil Happening to us 20 years later?

8 Shock #5 Creating a Virtual BioTech Existing Foundations goals not aligned with our goals to treat twins TODAY Reality sets in nightmare Need to develop our own strategy Twins will die unless we take action Short term: OTC supplements, Cyclodextrin Longer term: testing on FDA approved drugs, new drug development, stem cells Begin virtual biotech out of our home

9 Shock #6 How on earth are we going to run and fund N of 2 human safety study with cyclodextrin without Pharma, BioTech, NIH or NPC Foundation money and no support? How are we going to overcome that we are outsiders and parents directly involved in our children s treatment protocol and are involved in designing it? Could we kill them?

10 We Must Go For It!

11 Plan of Action Inserted ourselves directly into the scientific process despite resistance & lack of medical knowledge Found oncology doctor willing to support us Formed unique collaboration; became drug developers overnight Hired PhD to sift through medical data Learned we must get FDA Approval and IRB Approval Convinced J&J to provide DMF on cyclodextrin Compounding the drug liability issues IRB ethics issues Who will pay (?) insurance issues

12 Protocol & Drug Development Wrote treatment protocols from scratch with Dr. Hastings and PhD Took many months, full time work Used precedent to make case to FDA Chemistry, Mfg., Pharmacology Proposed IV drug delivery protocol Began NPC mice research on blood brain barrier Created new drug from powder to solution with hospital pharmacist

13 FDA Approves Intravenous INDs In April 2009, FDA approved intravenous INDs 16 months after NPC diagnosis 6 months after we decided to focus effort on cyclodextrin FDA helpful Process cumbersome especially when running sprint, not marathon Over 300 IV infusions in hospital Today weekly home infusions

14 Created Orphan Drug Filings For FDA and EMA Designated by FDA: May 2010 Designated by EMA: September 2011

15 FDA Approves Intrathecal Delivery August 2010 filed for intrathecal delivery of Cyclodextrin Second protocol written entirely from scratch; took 6 months FDA approved Sept First intrathecal injection into twins CNS on Oct. 15, 2010 Over 50 intrathecal injections into spine; no reported side effect Bi-monthly treatments

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18 ICV Delivery Huge FDA Hurdles Filed 3 rd protocol with FDA for ICV delivery of Cyclodextrin Collaborating with J&J and Medtronic Medtronic Ommaya to allow direct dosing to brain Now on partial clinical hold with FDA March 1 st Telecon with FDA Goal is combination IV and IT/ICV treatment possibly future pump

19 Grassroots Efforts Take Off Published FDA Approved Protocol on Internet 12 children are now on cyclodextrin WW Japanese and Brazilian doctors using our protocols Parents advocating and driving efforts is multiple countries Use Google Language tools to communicate Four years after we started cyclodextrin treatments, NIH received approval for Phase I clinical trial

20 Through the Valley of Death Where we started We are here

21 Our Future: Personalized Medicine

22 BioBanked Our Family s Cells

23 IPS Cells from Our Skin

24 Our Brain Neurons

25 Our Personalized Mouse Model Imagine + Pioneer = Search & Rescue

26 Rare Diseases Impact On Common Diseases NPC gene controls human cholesterol metabolism at cellular level NPC research relevant to millions of people worldwide Working with leading Alzheimer s, heart and virus researchers Major published research reports of the role for the NPC1 gene in HIV- AIDS, Ebola, AD AIDS trial getting underway at UC Davis with cyclodextrin Understanding ultra rare diseases will lead to solving the most common diseases - Dr. Francis Collins

27 Lessons Learned recognize mistakes observe what works document ideas share them

28 An Outsiders Perspective The Benefit of Ignorance The Motivation of a Mama Bear The Independence to Ask Hard Questions Not afraid of controversy

29 We re All Working Against the Odds billion US Dollars spent on Medical Research per year Leads to 800,000 discoveries published in scientific journals Source: NY Times, Myelin Repair Foundation 21 New FDA Approved Drugs

30 The Accepted Norm

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32 How Far Have We Really Come?

33 Similar Challenges and Odds of Success

34 Re-Architecting Therapeutic Development 21 st Century Patent Laws Standardized Legal Agreements (MTAs, RORs, Licensing) True FDA Reform Industry Wide Standardization of Informatics (big data) HIPPA Reforms (e.g. Universal Opt-Out) Mandate Open Source licensing for Publicly Funded Research Science-Commons (rapid idea protection) Modernize the Charter and Role of the NIH

35 The Single Biggest Roadblock? Effective Absence of a UNIFIED Patient Community Patient Advocacy Foundations competing Intra-disease Extra-disease Self proclaimed owners excluding other organizations Few effective efforts at building consensus Fundraising focus with inadequate end-game planning Failure to learn powerful lessons from other industries Automotive E-Commerce

36 The AIDS Community Put Differences Aside This was the last time that truly significant changes were made to our systems (1988)

37 We Need Unity If We Hope to Affect True Change to Our Antiquated Systems In Our Lifetimes

38 Thank You!