International Registry

I am writing to you today as the CMDIR Director to ask your participation in an important study, The Natural History of Centronuclear/Myotubular Myopathy and other RYR1-related Myopathies. This is a study that you can participate in from the comfort of your own home!

Why participate? While tremendous progress has been made in the last decade in defining Centronuclear and Myotubular Myopathy and RYR1-related Myopathy, there is still a big hole in our basic understanding of these conditions. Basic questions like: how did you know something wasn't right before the official diagnosis, what are the key issues you face on a daily basis, how well are these issues addressed by the current health care system and how common is CNM/MTM and RYR1-RM all still remain unanswered. These gaps in knowledge make it hard for clinicians to know where to focus research and how best to help not only you but the next person diagnosed with the same condition.

In short, your participation is a voice that helps define your particular condition to the medical and scientific community.

What do I have to do? 1. Email or call Kim Amburgey, Study Research Coordinator. 2. Get a hard copy or an online copy of a survey with questions from Ms. Amburgey. 3. Get consent forms from Ms. Amburgey. 4. Fill out both consent forms and the survey. 5. Then, fill out the survey once a year for the next 4 years to document over time whether there is a progression in your or your child's condition.

Kim Amburgey: Phone (734) 647-9224 or EMAIL: kamburg@med.umich.edu

How will my contribution make a difference? There is strength in numbers. This email is going out to the 99 families and individuals who have registered in the CMDIR with CNM/MTM and RYR1-RM. If all 99 families participate, this would represent the largest data collection over time on individuals with these conditions. This is a powerful voice.

If you are interested in reading more about this study and the principal investigator, Dr. Jim Dowling, MD, PhD, please go to: http://sitemaker.umich.edu/dowling.lab/cnm_mtm_rm_natural_history_study

On behalf of the entire CNM/MTM and RYR1-RM community and the CMDIR we would like to thank all the families who have already participated.

You, too, can be an agent of change and empower the community through providing information about your or your child's experience.

If you have any questions, please do not hesitate to contact us at the CMDIR: counselor@cmdir.org

Warm regards,

Anne Rutkowski MD, Director CMDIR