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CMD Clinical Trial Readiness Campaign. The CMD genes ~ The CMD to LGMD spectrum. Congenital Myopathy- RYR1. There is an overlap between congenital muscular dystrophy and congenital myopathy .

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congenital myopathy ryr1
Congenital Myopathy- RYR1
  • There is an overlap between congenital muscular dystrophy and congenital myopathy .
  • CMD subtype: SEPN1 or Rigid Spine Muscular Dystrophy can look exactly like Ryanodine Receptor congenital myopathy on biopsy and clinical picture
  • A decision to include Congenital Myopathy- RYR1 in the CMDIR, as no exisiting registry, similar clinical needs and overlapping targets in calcium handling.
  • We welcome the RYR1 families!
slide5

Being ready means:1. We maximize our chances of getting a good drug to and through clinical trial.2. We are able to measure an effect that the FDA accepts and is meaningful to our community.

slide7

The drug has no effect, not the intended effect or the size of the effect is not measurable.

The community was not “ready” to go to clinical trials.

  • no biomarkers
  • not rigorous enough preclinical testing
  • not enough known about the drug’s effect in the population
  • outcome measures that pick up big not subtle changes
  • unable to reach a statistically significant number of participants to show smaller effect
  • rate of disease progression in participants too variable
slide8

Longitudinal natural history

How do we measure functional gains in strength?

Current motor scales and timed tests

Effort dependent, how do the scales work in the setting of contractures

update on cmd care guidelines
Update on CMD Care Guidelines
  • Led by Dr. Ching Wang, Dr. Thomas Sejersen and Cure CMD
  • CMD Standard of Care Committee (80 international subspecialists)
  • CMD Clinician survey, subspecialist specific
  • CMD Family Standard of Care survey
  • CMD Care Guidelines Workshop, Brussels Nov 2009
  • Revisions
  • CMD Care Guidelines. Submitted for Publication
  • After publication, distribution of Care Guidelines
  • Next step…..CMD Family Friendly Care Guidelines
why are cmd care guidelines important
Why are CMD Care Guidelines important?
  • Assist doctors who have never seen a CMD patient offer a standard approach to work up (diagnosis) , referrals to subspecialists and an understanding of care issues
  • This results in more PRO-ACTIVE CMD medical care in the global community.
  • Assists families and affected individuals be informed about appropriate care and anticipate upcoming care issues
  • An important part of CMD clinical trial readiness
future directions
Future directions
  • Publication and adoption of CMD Care guidelines (physician and lay friendly versions)
  • Identification of different medical practices that might benefit people with CMD if adopted on a broader scale
  • Identification of areas of uncertainty in CMD medical practice, develop hypothesis, fund clinical trials to determine best practices that improve and save lives.
what do we all want
What do we all want?

A scientific investment that delivers a drug to slow disease progression, buys time, and improves quality of life

Earlier diagnosis with genetic confirmation (if possible)

Less variable, more proactive medical care from the global medical community with an emphasis on multidisciplinary care