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CMD International Registry

CMD International Registry . CMD Family Conference August 2010 Ami Mehta, MS, CGC counselor@cmdir.org. Overview. Registry Participation Genetic Testing. Registry Participation. Registries exist for many rare genetic conditions CMDIR-Launched in Sept. 2009 220 registered currently

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CMD International Registry

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  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? Trial recruitment Medical information Research Advances Population size Learn from others Trial planning 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. 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 Genetic Testing-Benefits and Limitations

  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

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