January 31, 2014
News for the New Year
You can be a part of something wonderful!
Erin and Marie
Erin Ward and Marie Wood

 Alfred Lord Tennyson wrote: "Hope
Smiles from the threshold of the year to come
Whispering 'It will be happier.'" We feel the smile of hope especially as we see how things are moving and shaking in the realm of medical research and pharmaceuticals, and how these developments could have a major impact on our community affected by MTM and CNM as well as those with other musculoskeletal diagnoses!

for the JFF Webinar Tomorrow, Feb 1st!

If you are interested in participating in clinical trials, consider registering for the first in a series of webinars, hosted by the Joshua Frase Foundation about "The Journey to Clinical Trials." You can email questions before and during the webinar, and these questions will be addressed by long-time MTM/CNM researcher, Dr. Alan Beggs.


Fireworks Exciting Progress in MTM Gene Therapy Published!


We are so excited that last week some of the AMAZING research happening for our community was made public! Those of you that were able to attend the Conference in 2013 (and in 2011, as well) got to hear about this groundbreaking research first-hand from authors from this most recent publication including Dr. Casey Childers, Dr. Anna Buj-Bello, Dr. Alan Beggs (via video), and Dr. Mike Lawlor.  We were blessed to have them with us to share these exciting findings, and we'd like to continue to thank them and so many others driving this work on behalf of our loved ones with MTM & CNM. These are exciting times indeed... this is big, a really big deal!

You may find the abstract for the published manuscript here:

January 22, 2014 issue of Science Translational Medicine


You can watch this video to learn more from Dr. Childers about these findings: 


And read the following press releases:


University of Washington: http://www.washington.edu/news/2014/01/22/gene-therapy-leads-to-robust-improvements-in-animal-model-of-fatal-muscle-disease-2/


Myotubular Trust: http://www.myotubulartrust.com/documents/Research-News-Press-Release-22-January-2014-Genethon-Myotubular-Trust.pdf


Joshua Frase Foundation: http://finance.yahoo.com/news/promising-pre-clinical-results-muscle-190700086.html


MDA:  http://quest.mda.org/news/animal-studies-bode-well-mtm-gene-therapy


We thank all the organizations involved in supporting this research, including family foundations in our community; The Joshua Frase Foundation, The Myotubular Trust, Where There's a Will There's a Cure, and also many individual families within our community who have helped to raise funds to support this research over the years.  


Alan Beggs
What WE Can Do on This Path to Clinical Trials!

This research gives incredible HOPE for our global MTM-CNM Family!! The researchers are doing their part to get us closer to clinical trials. Now it's time to do our part! How do we get ready for clinical trials? 

#1-Make sure you/your child has genetic confirmation from a CLIA certified lab.  



Not sure if you have genetic confirmation or what a CLIA certified lab is? Register now for the JFF Webinar this coming Saturday, Feb. 1st with Dr. Alan Beggs to learn more about why genetic confirmation is important and to answer many of these questions. Click here to register!


If you are in need of genetic testing, it's possible you could qualify for FREE genetic testing now sponsored by Valerion Therapeutics and the CMDIR. Click here for more information.


#2-Register with as many, but at least one, of our community's registries. Please see our November Conference Newsletter that includes a summary of the registries and direct links of how to enroll.



We are all an important part of moving research forward, please participate in this progress! 


Warmest regards,

Your MTM-CNM Family Conference Planning Team!