CMD International Registry CMD Family Conference August 2010 Ami Mehta, MS, CGC

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Presentation transcript:

CMD International Registry CMD Family Conference August 2010 Ami Mehta, MS, CGC

Overview Registry Participation Genetic Testing

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

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

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

Current CMDIR registrants’ diagnoses

Countries represented in CMDIR

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 s Encourage others to join  Help advance research and possibility of future treatment for community

Genetic Verification Status of Current Registrants

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!

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

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!

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

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