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Cure CMD2010 CMD Family Conference
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MissionTo raise CMD awareness and identify
treatments for the CMDs
The men who build the future are those who know that greater things are yet to come, and that they themselves will help bring them about. Their minds are illuminated by the blazing sun of hope. They never stop to doubt. They haven’t time. ~Micheal Egan
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Cure CMD Mission
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Cure CMD Goals: 2010-2011
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Goal 1: Discover CMDGoal Task
CMDIR Register global population
CMD New Genes
Identify
CMD Diagnostic Guidelines
Publish and distribute
Biomarkers Find and validate
Natural History
Launch
CMD Research Fund
CMD BioBank Donate and grow
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CMDIRRecently endorsed by AFM, Muscular Dystrophy
Campaign (UK), Muscular Dystrophy Australia
23 countries represented
Translated into: Portuguese, Spanish, German, French, English (Danish and Turkish forthcoming)
Global registration= Power in Numbers and a Genetically Characterized Population
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CMD New GenesOngoing international effort to identify new
genes with a particular focus on:a.Collagen VI like picture without collagen VIMutationb. Dystroglycanopathy without 1/6 known gene
mutations identified
New Genes= New Targets
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CMD Diagnostic GuidelinesCMD Standard of Care Committee, Brussels,
Nov 20091.CMD Care Guidelines2.CMD Diagnostic Guideline
Cure CMD is working with Dr. Sparks and Dr. Susana Quijano Roy to revise Genetest
Diagnostic Guidelines= Recognition, Less Diagnostic Odyssey, Increased Rates of
Genetic Confirmation of CMD community
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CMD BiomarkersA biomarker is “something” you find in the blood ,
urine or muscle or on imaging that helps you track or mark disease progression OR improvement
Biomarkers help a doctor monitor a diseaseBiomarkers help a scientist tell if a drug is
workingBiomarkers help confirm if a person who is
treated says they feel stronger that there is a positive effect at the muscle level
Biomarkers can given information about rate of disease progression
Biomarkers can help a doctor titrate medication dose
Biomarkers= Showing an Effect or Rate of Disease Progression on a Cellular or Organ System Level
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CMD Natural HistoryFollow people with CMD over time, looking at
biomarkers, outcome measures and imagingTo lead to this: CMD Translational Grant: Jim Collins, Biomarkers, Jan
2010CMD Quality of Life Survey, March 2010ENMC CMD Outcome Measure Meeting, March 2010CMD Comparative Outcome Measure study, June
2010NINDS and CMD: Common Data Elements Meeting,
Sept 2010CMD Motor Outcome Measure Meeting, October 2010
Natural History Study=Validation of Outcome Measures, Increases Ability to Measure Drug Effect
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CMD ResearchPartnered with SAM in 2009 to fund >200K in
CMD ResearchCMD Scientific Conferences:
July 2009 Therapeutic Targets in the CMDsJan 2010 CMD High Throughput Screening, NCGC
Cure CMD SMAB, Sept 2010Evaluate critical needs, direction and funding
priorities
Funding Research=Power to Identify and Evaluate Future Targets
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Goal 2: TREAT CMDGoal TaskCMD Care Guidelines
Publish and distribute
CMD Lay Guidelines
Develop and Distribute
Types of CMD
Develop video library
Pulmonary care
Develop video library
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Goal 3: Fundraise CMD
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Upcoming EventsTully’s Run for Owen, August 21, 2010Cure CMD Team ~San Jose Rock N Roll ½
Marathon, October 3, 2010Rage Against the Disease Art Auction,
October 10, 2010Cure CMD Team~Los Angeles Rock N Roll ½
Marathon, October 24, 2010Cure CMD Team ~Long Branch ½ Marathon,
May 1st, 2011
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Stay on Mission, Build the Community, Prepare for clinical trials
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Manage a RoadmapPreclinical Trials Clinical Trials
What target? What endpoints?What delivery system? How big is the
effect? What preliminary data? Combination
therapy?What validation workflow?
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CMD Target RoadmapDrug or Mechanism
Preclinical: HTSanimal model
Valley of Death: fundingtoxicologypreclinical studiesdrug manufacture
Clinical Trials:funding
Laminin 111 X X
Omigapil X X
N-Acetylcysteine
X X
IPLEX/IgF X
Upregulation glycosylation
X
Upregulation CT Gal NAC transferase activity
X
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Clinical Trial Readiness
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Clinical TrialsHoly grail is not clinical trials, it is a treatment
that works.
To objectively determine a treatment works, we go through clinical trials.
Right drug, right population.
We cannot afford a major learning experience at the clinical trial level.
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TreatmentsClinical Trial ReadinessCollaborations Roadmap