Transcript Cure CMD 2010 CMD Family Conference

Cure CMD
2010 CMD Family Conference
Treatment
Roadmap
Mission
& Goals
Mission
To 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
Treat/Cure
Fund and
Focus
Research
Biospecimen
Repository
Animal
Model and
Cell systems
HTS
Drug
Pipeline
Cure CMD Goals: 2010-2011
Treat
Discover
Fundraise
Goal 1: Discover CMD
Goal
Task
CMDIR
Register global population
CMD New Genes Identify
CMD Diagnostic
Guidelines
Biomarkers
Publish and distribute
Natural History
CMD Research
CMD BioBank
Launch
Fund
Donate and grow
Find and validate
CMDIR
Recently 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 Genes
Ongoing international effort to identify new genes with
a particular focus on:
a. Collagen VI like picture without collagen VI
Mutation
b. Dystroglycanopathy without 1/6 known gene
mutations identified
New Genes= New Targets
CMD Diagnostic Guidelines
CMD Standard of Care Committee, Brussels, Nov 2009
1. CMD Care Guidelines
2. 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 Biomarkers
A 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 disease
 Biomarkers help a scientist tell if a drug is working
 Biomarkers 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 History
Follow people with CMD over time, looking at
biomarkers, outcome measures and imaging
To lead to this:
CMD Translational Grant: Jim Collins, Biomarkers, Jan
2010
CMD Quality of Life Survey, March 2010
ENMC CMD Outcome Measure Meeting, March 2010
CMD Comparative Outcome Measure study, June 2010
NINDS and CMD: Common Data Elements Meeting,
Sept 2010
CMD Motor Outcome Measure Meeting, October 2010
Natural History Study=Validation of Outcome Measures,
Increases Ability to Measure Drug Effect
CMD Research
 Partnered with SAM in 2009 to fund >200K in CMD
Research
 CMD Scientific Conferences:
 July 2009 Therapeutic Targets in the CMDs
 Jan 2010 CMD High Throughput Screening, NCGC
Cure CMD SMAB, Sept 2010
Evaluate critical needs, direction and funding priorities
Funding Research=Power to Identify and Evaluate Future
Targets
Goal 2: TREAT CMD
Goal
CMD Care
Guidelines
CMD Lay
Guidelines
Types of CMD
Task
Publish and distribute
Pulmonary
care
Develop video library
Develop and Distribute
Develop video library
Goal 3: Fundraise CMD
Can
Make
Donation
Upcoming Events
 Tully’s Run for Owen, August 21, 2010
 Cure CMD Team ~San Jose Rock N Roll ½ Marathon,
October 3, 2010
 Rage Against the Disease Art Auction, October 10, 2010
 Cure CMD Team~Los Angeles Rock N Roll ½
Marathon, October 24, 2010
 Cure CMD Team ~Long Branch ½ Marathon, May 1st,
2011
Treatment
Roadmap
Mission
& Goals
Stay on Mission, Build the Community,
Prepare for clinical trials
Family
Scientist
Clinician
• CMDIR
• CMD Family Conference
• CMD Lay Guidelines
•
•
•
•
Annual Scientific Meetings
Fund Translational Research
Animal models, Biomarkers
CMD BioBank
• SOC Care Guidelines
• Outcome Measures
• Biomarkers
Manage a Roadmap
Preclinical Trials
What target?
What delivery system?
What preliminary data?
What validation workflow?
Clinical Trials
What endpoints?
How big is the effect?
Combination therapy?
CMD Target Roadmap
Drug or
Mechanism
Preclinical:
Valley of Death:
HTS
funding
animal model toxicology
preclinical studies
drug manufacture
Laminin 111
X
X
Omigapil
X
X
NAcetylcysteine
X
X
IPLEX/IgF
X
Upregulation
glycosylation
X
Upregulation
CT Gal NAC
transferase
activity
X
Clinical Trials:
funding
Clinical Trial Readiness
Clinical Trials
Natural History Study
Biomarkers
Outcome
Measures
Defined
patient cohorts
Refine clinical
trial design
Clinical Trials
Holy 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.
Treatments
 Clinical Trial Readiness
 Collaborations
 Roadmap