JUNE 12
2017

On-site Opportunities
Booting Up and Moving Forward!

An important part of the mission of MTM-CNM Family Connection, Inc. is the commitment to help connect MTM & CNM families to researchers and research opportunities in our community.  

Since 2011, the Conference has provided opportunities for individuals with MTM & CNM to enroll onsite with teams of researchers and to actively participate in research studies. This in turn helps to accelerate the pace at which research teams can collect data and enroll participants in important studies for our community, since they can collect data over a single weekend that would otherwise take months or years to collect if teams were to arrange individual visits and travel with patients and families.  

Once again, we are excited to help create this connection between researchers and the MTM-CNM patient community.  As research teams receive IRB approvals for data collection at our 2017 MTM-CNM Family Conference, we will be sharing with you this information in our newsletters for your consideration.



University of Florida
Rare Disease Longitudinal Observational Study

Researchers from the University of Florida will be attending the 2017 MTM-CNM Family Conference to perform research breathing tests on individuals with centronuclear myopathies, which include measurements of breathing pattern, the ability to initiate a cough, and the voluntary strength of breathing muscles. This year, we will also be evaluating muscle function in female carriers of X-linked myotubular myopathy. These evaluations will measure the strength of breathing muscles, core muscles, and upper and lower extremity muscles.

These tests will be part of a study called the Rare Disease Longitudinal Observational Study, which is approved by the University of Florida IRB. You will not be charged for these tests. Please view the following links Respiratory Study and Carrier Study   or contact Lee Kugelmann at [email protected] or 352-273-6855 for more information. 




Nationwide at the MTM-CNM Family Conference
New assessments to test the ability to move in individuals with XLMTM

Nationwide Children's Hospital is looking for individuals with X-Linked Myotubular Myopathy (XLMTM) and non-affected siblings and parents to test 2 new tools to see if they can measure how well you can move. 
 
 
If you would like to participate in these assessments, please contact Maggie Dugan, for more information or to sign up for an appointment (Thursday, Friday, or Saturday, July 23-25):
[email protected] or 614 722-6881
 
 
*You can also stop by or contact one of our team members at the conference to make an appointment 


Reminder: REGISTRATION
Costs go up after Jun 16th so *lock in your lower rates* TODAY!

Please make sure that in addition to reserving your hotel room that you have registered for the MTM-CNM Family Conference. The current R egistration Fee Schedule for 2017 is as follows:
  • Individuals diagnosed with MTM/CNM....Free
  • Adults 18 and over..........................................$100
  • Children 12-17...................................................$50
  • Children 4-11.....................................................$25
  • Children 0-3.....................................................Free
  • After June 16, fees will increase, so don't delay!
Registration can be done on our site at  http://www.mtm-cnm.org/2017.html.

Invoices will be emailed after registration and are due no later than July 7th, but you can lock in these registration rates now!