1. Friedreich Ataxia Friedreich Ataxia Research Association Australasia

2. What is Friedreich Ataxia? Most common form of hereditary ataxia Autosomal recessive disease Caused by a defect in a gene labeled FXN. Both male and female children can inherit the disorder. Age of onset 5 – 15 years 1 in 30,000 in Australia 1 in 90 are carriers Currently no treatment

3. Brief History 1863 – Friedreich Ataxia first described by Nikolaus Friedreich, a German physician. 1990 – no Australian research being conducted. 1996 – gene discovered by Massimo Pandolfo. 1997 – Professor Bob Williamson appointed Director of Murdoch Institute in Melbourne

4. FARA(A) – Friedreich Ataxia Research Association (Australasia) Formed in 2003 by Peter Rousch, Mike Dwyer and Steve Beetham Board comprises 6 parents of 10 FA kids. Scientific Advisory Committee: Professor Bronya Keats, Professor Bob Williamson, Professor Kathy North, Professor Ed Byrne, Dr Elizabeth Coulson.

5. Friedreich Ataxia Clinic First dedicated FA clinic in the world. Held one afternoon per month, free of charge for patients. They can visit with all the relevant FA specialists in the one location. Neurologist, geneticist, physiotherapist, occupational therapist, opthalmologist, cardiologist, etc.

6. Research we fund Clinical care: Friedreich Ataxia Clinic, Melbourne and Brisbane. Clinical studies: MFARP – Murdoch Friedreich Ataxia Research Program. Neurological, cardiac, speech, kinematic, vision and ocular motility, functional MRI, audiology, quality of life, sexual function and gait studies. Gene therapy: Developing lentiviral vectors for gene therapy of FA Stem Cells: Generation of induced pluripotent stem cells from FA patients; Investigating the cardiac differentiation of FA iPS cells; Generation of sensory nerves from FA iPS cell lines

7. International FA research AustralasiaUnited States United Kingdom and Europe

8. Our International Resources FA mouse models banked at JAX – standardized characterization following recommendations of FA international mouse models task force FA iPS neural and cardiac cell lines - banking High Throughput Screening assays FA Collaborative Clinical Research Network (CCRN in FA) FA Data & Clinical Trial Coordination Core FA national and international clinic network FA national and international patient database FA autopsy and tissue donation program for research FA international patient advocacy groups network – USA, Australia, UK, Europe FA international stem cell advisory committee

9. CCRN in FA Collaborative Clinical Research Network in FA 11 centers worldwide More than 550 patients participate in clinical research and receive medical care at these sites. Includes data coordination and management, a bio-repository, clinical research studies and direct costs for the centers.

10. Clinical trials Idebenone – completion of Phase III and 6 month extension both in US and Europe. Deferiprone – the Phase II trial of the iron chelator is complete. Pioglitazone – A Phase II/III trial is under way in France and is scheduled for completion in 2012. Carbamylated EPO (CEPO) – completion of the Phase II clinical trial in Europe is scheduled before May. A0001 – Phase II trial completed end of December. HDAC inhibitor – currently with the FDA seeking Phase I approval Resveratrol – recruitment has commenced in Melbourne

11. Stem Cells Annual international FA stem cell meeting International FA Stem Cell Advisory committee Areas of focus – cardiac, neuronal and diabetes Areas of research interest: Neural – peripheral nerve regeneration Cardiac – cardiac tissue engineering Pancreas – diabetes tissue engineering

12. CAMRA – Coalition for the Advancement of Medical Research Australia NAA – Neurological Alliance Australia ANN – Australian Neuromuscular Network