1. Fighting blindness: ‘Towards a cure for animals and a cure for humans’
Rainald von Gizycki
Retina Europe
EPPOSI, Brussels, January 16, 2009

2. Basic Statements
Patients are interested in the end results of high quality scientific and medical research
If that’s possible without animal research, that would be perfect
If animal research is necessary, then it must take animal welfare into account

3. Some Causes of Blindness
LCA, Lebers Congenital Amauroses, genetic
RP, Retinitis Pigmentosa, also genetic
AMD, Age-related macula degeneration, aquired and genetic

4. Age of Onset & Frequency Disease
LCA :
Baby’s < 1 year
1 :
RP:
Between 10 – 30 years
1 : 3.500
AMD :
Elderly > 55 years
1 : 10 in the population older than 50

5. Affected People in the EU (estimate)
LCA Leber’s disease
Retinitis Pigmentosa
AMD (dry and wet)

6. Treatment possibilities for people with genetic blindness
There are almost no effective
treatment possibilities available

7. LCA / RPE 65 Gene Replacement Therapy
LCA is caused by the same mutation in the RPE 65 gene in humans as in the BRIARD dog ("wild type" mutation)
The mutation results in reduced activity of an enzyme responsible for recycling Vitamin A in the visual cycle.
In dogs and in humans the healthy RPE 65 gene can be injected with the AAV 2-vector into the retina (gene replacement therapy)

8. Gene replacement for Briard Dogs
Nature Genetics, May 1, 2001
American researchers Acland/Aquirre
Cornell University, US
Restored sight
in one eye of the
Briard type, called
‘Lancelot’, by means
of gene therapy
More than 50 dogs “cured” since then

9. Movie
In the original presentation, the movie of the gene therapy in a dog was projected here

10. Movie
In the original presentation, here the movie of gene therapy in humans was projected

11. Statement Steven Howarth
‘At first I could not see anything really in the eye that was operated on but it got much better after a week, then gradually even better until it was back to normal.
Now my sight when it’s getting dark or it’s badly lit is definitely better. It is a small change but it makes a big difference’
Manchester Evening News, April 28, 2008

12. Statement Prof. Robin Ali
‘Showing for the first time that gene therapy can work in patients with eye disease is a very significant milestone.
This trial establishes proof of principle of gene therapy for inherited retinal disease and paves the way for the development of gene therapy approaches for a broad range of eye disorders’
Manchester Evening News, April 28, 2008

13. Conclusions
Prevention of blindness was only possible due to proof of principle in dogs
Natural animal models were used and their welfare is enhanced prior to welfare of humans
Not our looks but our look is at stake !

14. What the Future Holds
Thorough assessment of risk associated with LCA gene replacement therapy (macular hole)
Patient organisations keep investing in clinical trials (UK Fighting Blindness, Pro Retina Germany)
Private US organisations market a gene replacement therapy for animals

15. EPF Position Papers on Animal Welfare
European Patients’ Forum (EPF), umbrella
The Patient’s Perspective on the Use of Animals in Biomedical Research
‘Properly regulated animal research continues to be essential in many aspects of medical research and
a vital, legally required stage in the development of treatments for patients with unmet medical needs’

16. Aknowledgement: Prof. Ali, Moorfelds Eye Hospital, London
Prof. Petersen – Jones, Michigan State University, Lansing
Dr. Bainbridge, University College, London
Prof. Lorenz, Universitäts-Augenklink, Giessen Gal, UKE, Hamburg
Prof. Gal
Fighting Blindness Ireland
European Patients’ Forum (EPF)

17. For further information:
Thank you !
For further information: