1. CMD International Registry CMD Family Conference August 2010 Ami Mehta, MS, CGC counselor@cmdir.org

2. Overview Registry Participation Genetic Testing

3. Registry Participation Registries exist for many rare genetic conditions  CMDIR-Launched in Sept. 2009 220 registered currently  TREAT-NMD 33+ countries with registries for neuromuscular disorders

4. Why Join? Medical information Population size Trial planning Trial recruitment Research Advances Learn from others Community interest

5. Benefits Assess community & identify unaddressed needs Contribute to CMD disease awareness Characterize the community in a common database  Helping turn clinical trials from a possibility into a reality

6. Current CMDIR registrants’ diagnoses

7. Countries represented in CMDIR

8. I’m registered, now what? Keep your account up-to-date  Send in your test results (Genetic testing and muscle biopsy reports are important) Watch for e-mails Encourage others to join  Help advance research and possibility of future treatment for community www.cmdir.org

9. Genetic Verification Status of Current Registrants

10. Genetic Testing Ask for a copy of your test results! Questions to discuss with your doctor:  I had a muscle biopsy, do I need genetic testing?  No mutation was found, do I need more testing?  I participated in research testing, do I need other testing? Who else can help? CMDIR!

11. Genetic Testing-Benefits and Limitations Confirms clinical diagnosis Minimal procedure risk Research studies and clinical trials Family members  Improve risk assessment  Diagnosis, reassurance May require multiple tests May not identify a mutation Unexpected results May not indicate prognosis/severity Cost and time for results

12. Questions about genetic testing… How can I or my child be tested?  Blood sample  Medical care provider must order testing What should I know before the test is ordered?  Method  Detection rate  Cost  Insurance and Billing  Possible results  Turn around time  Next steps Who will interpret the results?  Medical care provider Be sure to upload or fax your results to CMDIR to complete your profile!

13. Summary Registry Participation is IMPORTANT  Better understanding of CMDs and genes involved  Raise awareness and identify population  Research studies and clinical trials

14. Acknowledgements Cure CMD/CMDIR  Anne Rutkowski Emory University  Vanessa Rangel Miller  Madhuri Hegde  Ken Loud Innolyst, Inc.  Kyle Brown