Slides - EveryLife Foundation for Rare Diseases

The Story of Addi & Cassi
The Jackson Laboratory
Presentation To:
A Family’s Quest To Treat An Ultra Rare Disease
Chris Hempel
Addi & Cassi Fund
Rare Disease Day 2014
Rare Disease “Advocists”
Hugh & Chris Hempel from Reno, Nevada
2004: blessed with identical twins, Addi and Cassi, six
high-tech folks from the Bay Area
no scientific background
2005: medical odyssey with twins begins
2007: twins diagnosed with Niemann Pick Type C, ultra
rare and fatal genetic cholesterol condition
• Condition called “Childhood Alzheimer’s”
• Self described rare disease “advocists”:
• advocate + activist
Rare Disease Day 2014
• Teamed up with 5 families, pooled financial resources
• Created ‘Virtual BioTech’
• SOAR-NPC (Support Of Accelerated Research) for Niemann Pick
Type C disease
• Fund researchers willing to collaborate across labs and
engage with families
• Created ‘ASAP Program’ – As Safe As Possible
• Hired PhD to help sift through medical data
• Short term: Looking for FDA approved drugs off-label or
OTC supplements, anything to treat children today
• Longer term: new drug development
Rare Disease Day 2014
Cyclodextrin – Our Miracle?
• Days after NPC diagnosis, promising sugar compound
cyclodextrin (HPBCD) came to our attention
• Cyclodextrin is key ingredient in Febreze® Fabric Spray,
fat free butter, GRAS in Europe/Japan
• Cyclodextrin extracts cholesterol from cell cultures
• Promising neurological results in NPC mice
• Told Cyclodextrin was “many years” from ever going into
children – work in parallel?
• Inserted ourselves directly into the scientific process
despite resistance and lack of knowledge
Rare Disease Day 2014
Cyclodextrin as a Case Study
• Goal: How do we conduct and fund N of 2 human study and
safety trial without Pharma, BioTech, NIH or NPC Foundation
• Lorenzo’s Oil – Happening to me 20 years later?
• Doctor at Children’s Hospital Oakland willing to help – form
unique partnership
• No experience with FDA or drug development process
– Wrote intravenous human protocol from scratch
• Hired Contract Pharma PhD expert
– Created and tested the compound
• Hospital Pharmacist created solution
Rare Disease Day 2014
Cyclodextrin as a Drug
Rare Disease Day 2014
Twins Receiving IV Infusions
Rare Disease Day 2014
FDA IND Success To Date
• Same safety rules apply to us as “traditional trials”
• April 2009, FDA approved intravenous INDs
– 16 months after initial NPC diagnosis
– FDA helpful but process is cumbersome especially when
running a sprint, not a marathon
• April 2010 filed Orphan Drug Application with FDA, received
designation in May 2010
• August 2010 filed intrathecal INDs, approved Sept. 2010
• 1st intrathecal infusion into twins’ CNS on Oct. 15, 2010
• 2013 Filed Ommaya Route of Administration IND
• 2014 First Ommaya Delivery
Rare Disease Day 2014
Initial N=2 Study Results and Next Steps
• N=2 Intravenous study results:
– Improvements: ataxia, eye movements, swallowing
– Twins continue to decline neurologically, BBB issues
• Future plans:
– Phase I trial at NIH; N=9 underway
– Phase II trial being considered now…
Rare Disease Day 2014
Running Trial on a Shoestring Budget
• Cyclodextrin is relatively inexpensive, no patents = no
venture capital
• Insurance – another miracle!
• Goodwill of doctors, scientists and laboratories doing
work pro-bono
• Personal checkbook
• Johnson and Johnson’s role (Toxicity Data, PK)
• Time as valuable as money: Full-time job for 3 years
• How do I get this drug approved for a cheaply as
– FDA Grants, Orphan Drug Tax Credits
Rare Disease Day 2014
Additional Treatment Avenues
• Personalized Medicine approach; individual genome
• Could be first family ever created from induced
pluripotent stem cells (iPS cells derived from skin)
• MIT has differentiated iPS cells into neurons
• National Chemical Genomics Center (NCGC) and MIT
– Create neuron model to test all FDA approved drugs
and other library of compounds
• ‘Search and Rescue’ mouse model underway
Rare Disease Day 2014
iPS Derived Neurons - Cassi
Rare Disease Day 2014
Before Ommaya Reservoir Surgery
Rare Disease Day 2014
After Surgical Complication
Rare Disease Day 2014
Thank You For The Opportunity
To Speak To You Today
Rare Disease Day 2014

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