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This talk will cover?. What is Pompe disease?The 70-year marchThe roles of scientists, industry and patientsEnzyme Replacement Therapy. The Hollywood version. . ?Don't hope for a miracle. Make one up.". Joannes Cassianus Pompe . Dutch pathologistPublished description of disease in 1932Identified it as a glycogen storage diseaseJoined Dutch resistance in 1940.
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1. Pompe disease: a case study of the development of a successful treatment for a rare disease
Kevin ODonnell
2. This talk will cover
What is Pompe disease?
The 70-year march
The roles of scientists, industry and patients
Enzyme Replacement Therapy
3. The Hollywood version
4. Joannes Cassianus Pompe Dutch pathologist
Published description of disease in 1932
Identified it as a glycogen storage disease
Joined Dutch resistance in 1940
I missed out the obvious it is a genetic disease!I missed out the obvious it is a genetic disease!
5. April 14, 1945
6. A puzzle Glycogen storage
But
Normal glycogen metabolism enzymes present
7. Christian de Duve 1955 - Researching effect of insulin on the liver
Discovered intracellular compartments
Lysosomes
Nobel prize in 1974
8. Lysosomes
9. Henri-Gery Hers Co-worker of de Duve
Interested in glycogen storage disease
Alpha-glucosidase deficiency
A lysosomal enzyme
Lysosomal Storage Disease concept - 1965
10. The Turning of the Tide 1991 -Arnold Reuser and Ans van der Ploeg
Showed enzyme replacement therapy could work
Mannose-6-phosphate
11. Enzyme Replacement Therapy (ERT)
12. Patient groups Patient groups organised across world
Championed Dutch work
Funding lifeline
Industry interest generated
13. To market, to market
Scale up needed for trials
Pharming produced enzyme in rabbit milk
Other companies then interested including Genzyme
Succesful trials
Genzyme bought out everyone else scaled up for market
Patient groups championed development
14. Clinical Trial Results I had some good videos of the clinical trial results here which, due to patient confidentiality, I cannot make widely available.
They showed though that the treatment was a success heart size was reduced and muscle function recovered.
15. Novazyme Muscle from Pompe mice, 6 hours after treatment with standard enzyme (on the left) and Novazymes wonder product (on the right). Glycogen stains purple and, as you can see, is absent with the wonder product. These results were later shown to be false.Muscle from Pompe mice, 6 hours after treatment with standard enzyme (on the left) and Novazymes wonder product (on the right). Glycogen stains purple and, as you can see, is absent with the wonder product. These results were later shown to be false.
16. How not to do it Genzyme paid $137 million for Novazyme
Product did not work
Industry/scientist/patient group model = how to do it
Novazyme = how not to do it
Delayed development?
17. Scale-up and Approval Genzyme scale up production via cell culture
Expanded trials
2006 approved as a medicine in US and Europe
Available on NHS (but not in Scotland)
18. Timeline 1932 - JC Pompe discovers disease
1965 - H-G Hers explains disease
1991 - Reuser and van der Ploeg demonstrate treatment
1999 - first clinical trials
2006 Approval as a medicine
19. What the patients say Hillary, 33, Oregon
ERT has helped me stabilize my pulmonary function and regain some strength.
After a couple years on ERT I started skiing again, which I had given up a few years before.
20. What the patients say Helen, Australia
Myozyme changed my life from spending hours a day on the Bi pap to not needing it at all during the day.
I have been able to get back into the community, get out in the garden, go for a drive and the treatment allows me to undertake a conversation without losing by breath.
My future was so close to being put in a nursing home.
21. What the patients say Phoenix, 8, Florida
At the start of treatment Phoenix's heart was very enlarged
The Myozyme fixed that and today his heart is described as "normal"!
We are extremely happy to be able to spend our time with this little boy who is quickly becoming a young man.
However, from a skeletal muscle standpoint he has not seen any
improvement. He is still very weak and has to use a ventilator 24hrs a day
to breathe.
22. Resources www.pompestory.blogspot.com
www.pompe.org.uk
www.pompe.com
www.worldpompe.org
www.amda-pompe.org
23. Conclusions Chance favours the prepared mind
Breakthroughs can come from unexpected areas
The pharmaceutical industry is a good servant but a poor master
Patient groups can make a difference The quote is attributed to Louis Pasteur.The quote is attributed to Louis Pasteur.