President's Letter from the 6th Dysferlin Conference

Welcome to the 6th Dysferlin conference.

Our last conference in Chicago was 628 days ago. This is the longest interval we have ever had between our meetings. During this time, my team took a hard look at our mission and focused their efforts on three critical pieces that need to be in place to build a therapy. I want to highlight our progress in these areas as they represent important steps in bringing the research discoveries made during the last few years into the clinic. 

  1. The Jain Foundation now leads several projects at for profit Contract Research Organizations. These projects leverage expertise used by pharmaceutical companies to identify and develop cell-based assays and animal testing methods critical for developing a therapy. The first of these projects started in July, 2012, we are happy to announce that a promising cell-based high throughput assay and a new outcome measure in mice are already within reach.
  2. We bolstered our diagnostic efforts by developing an online LGMD Subtype Diagnosis Tool which helps physicians rapidly identify LGMD2B/MM patients. Having enough patients to adequately test an intervention is one of our gravest concerns. This tool is helping ensure that we have sufficient numbers of patients identified and willing to participate in a trial. The tool was launched in May 2012 and already over 300 physicians worldwide are using it.
  3. We are preparing for clinical trials by searching for the best ways to measure the impact of dysferlinopathy in patients.  To this end, in Sept 2012, we launched the dysferlinopathy Clinical Outcome Study (COS) at 14 worldwide centers.  The study plans to recruit at least 150 patients.  COS will also establish the infrastructure to conduct clinical trials. To date 38 patients have been enrolled.

During this conference each of these developments will be presented in greater detail. Our intention is to gain your insight into these endeavors so that we can improve and refine them. I ask you to take the time to analytically and critically evaluate these initiatives and give us your feedback, much like we do for you during our quarterly updates. In addition, as you think about the specific challenges of dysferlinopathy, please take the time to point out any gaps and inadequacies in our program as it pertains to our goal. In other words, what pieces are missing?

Our focus on the projects above have brought us to a crossroad where we must evaluate the pros of having a conference against the time it takes to organize and hold one. Would this time be better used getting ready for and running clinical trials with promising drugs that are FDA approved for other indications and readily available?

Our conference allows us to share ideas, kindle collaborations, get critical feedback and learn about new techniques and tools. These are all valid reasons, but it is difficult to measure how often they occur. To help justify having future conferences, we would like to know whether any of the above is actually happening at our conference. I am asking you for even more this year. Your mission, should you choose to accept it, is to show us that the following are a direct result of this sixth conference:

  • New, relevant and important ideas took shape during the conference
  • New collaborations made and actually carried forward to a partnership
  • Old collaboration taken to a new level of partnership
  • Laboratory reagents requested, promised and delivered within days of the conference
  • Presentation of unpublished data
  • Information about a new relevant technique, tool or resource
  • Changes in the direction of your research as a direct result of attending
  • Help finding a solution to a challenging hurdle
  • Answer/s to an important question!
  • Other benefits of attending that directly supports the Jain Foundation’s goal

Please describe in real time the specific, tangible advantage or benefit you derived from this conference that provides a relevant step towards finding a therapy for LGMD2B. You will drive the case for continuing with these conferences with specific examples. I welcome emails both during and after the conference. 

Together with you, we will build a therapy for dysferlinopathy, piece by piece

Sincerely,