Cure CMD2010 CMD Family Conference

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

Cure CMD Mission

Cure CMD Goals: 2010-2011

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

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

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

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

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

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

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

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

Goal 3: Fundraise CMD

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

Stay on Mission, Build the Community, Prepare for clinical trials

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?

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

Clinical Trial Readiness

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.

TreatmentsClinical Trial ReadinessCollaborations Roadmap