cmd international registry cmd family conference august 2010 ami mehta, ms, cgc
DESCRIPTION
Registry Participation Registries exist for many rare genetic conditions CMDIR-Launched in Sept registered currently TREAT-NMD 33+ countries with registries for neuromuscular disordersTRANSCRIPT
Overview
Registry ParticipationGenetic Testing
Registry Participation
Registries exist for many rare genetic conditionsCMDIR-Launched in Sept. 2009
220 registered currentlyTREAT-NMD
33+ countries with registries for neuromuscular disorders
Why Join?
Medical information
Populationsize
Trialplanning
Trialrecruitment
Research Advances
Learn from others
Community interest
Benefits
Assess community & identify unaddressed needs
Contribute to CMD disease awarenessCharacterize the community in a common
databaseHelping 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-dateSend in your test results (Genetic testing and
muscle biopsy reports are important)Watch for e-mailsEncourage others to join
Help advance research and possibility of future treatment for community
www.cmdir.org
Genetic Verification Status of Current Registrants
Genetic TestingAsk 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 LimitationsConfirms clinical
diagnosisMinimal procedure
riskResearch studies and
clinical trialsFamily members
Improve risk assessment
Diagnosis, reassurance
May require multiple tests
May not identify a mutation
Unexpected resultsMay not indicate
prognosis/severityCost 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 IMPORTANTBetter understanding of CMDs and genes
involvedRaise awareness and identify populationResearch studies and clinical trials
AcknowledgementsCure CMD/CMDIR
Anne RutkowskiEmory University
Vanessa Rangel MillerMadhuri HegdeKen Loud
Innolyst, Inc.Kyle Brown