09-11 Jul 2009

Principal investigator: Dr. Carsten Bonnemann
Co-organizers: Dr. Anne Rutkowski and Patrick May, Cure CMD
 
This unique conference will identify and initiate opportunities for translational research in the congenital muscular dystrophies (CMDs).  The primary goal of the conference is to address, evaluate and achieve consensus on therapeutic targets in the CMDs by bringing together experts ranging from basic science to clinical trial design in rare disorders. A successful outcome will lead to the construction of a roadmap and investment “portfolio” based on the identification of short term, mid term and long range scientific targets and their subsequent development into treatment strategies with strong translational potential.
 
Based on the current understanding of possible therapeutic targets and conceivable therapeutic strategies, topics will be grouped into the following core areas: apoptosis (mechanism and control), atrophy, endurance/exercise pathways, fibrosis and extracellular matrix control, inflammatory mediators, virally mediated gene delivery and mutation directed therapy, upregulation of glyscosylation, and stem and satellite cell based therapy (replacement therapy and pharmacologic manipulation of regenerative and proliferative potential). Strengths and weaknesses of current clinical and basic science resources will be identified, including: available animal models, assays, patient registries, biorepositories and existing clinical trial networks. Expert clinicians with participation from an FDA representative  will guide discussion germane to clinical trial design options in rare disease to develop and adapt strategies for efficient implementation of smaller clinical trials as well as open pilot trials. Related to this, an additional core area will focus on the development of outcome measures, biomarkers and the development of additional tools such as quality of life measurements. 

Select pharmaceutical company participation will bridge current basic science research to industry based pharmaceutical development.  MDA, NIH and TREAT-NMD representation will help broaden the perspective and synergize collaborative networks for future funding requests focused on CMD Translational Targets.