MTM-CNM Family Conference
June 21, 2013 Newsletter
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Reserve Your Rooms!

All hotel rooms still left in our block on June 26th will be released back to the general reservations, if there are any left. Reservations can be cancelled up to 72 hours in advance of your arrival. Best Western Mall of America
 We are working closely with the hotel and they are watching our rooms, but please contact the team if you have any difficulty making reservations or you are told they are filled. 


Can you believe that the conference is just over a month away?! This will be such a wonderful weekend of meeting families, fun activities, and important interactions with doctors and researchers!



We are very excited to have a team of researchers from the University of Florida joining us this year!  The University of Florida team is led by Dr. Barry Byrne, MD, PhD, and the team studies the potential of gene and cell therapy to enhance muscle regeneration for individuals with inherited neuromuscular diseases. 


At the conference, the U of FL Team will have the opportunity to connect with interested patients and families who may qualify for their "Observational Study of Respiratory Strength and Function in X-Linked Myotubular Myopathy." The purpose of the study is to gain a greater understanding of the year to year changes in individuals with Myotubular Myopathy.  Individuals with a confirmed diagnosis of X-linked myotubular myopathy and who use invasive or non-invasive ventilator support may be eligible to participate.  It is hoped that a greater understanding of the control of breathing in XLMTM may one day help scientists to develop more specific treatments in the future.  If you are interested in learning more about the U of FL team's observational respiratory study, or would like your loved one with XLMTM to be considered for participation while at the conference, please contact the team at[email protected] or (352) 505-5875.  In order to make sure they reserve the time to meet everyone's need, the team requests that you contact them by July 5.  Also, if you indicated on your conference registration that you may like your child to participate in the study, you may be directly contacted by the team in the near future.


In addition to enrolling individuals in their study, the team will also share information they have learned from their past and current observational studies of ventilator-dependent patients, as well as their experiences with gene therapy in the Pompe disease community.  We are very grateful they will be joining us this year and looking forward to learning more from their knowledge and experience in moving through the process of development for clinical trials with gene therapy. 

Dr. Barry Byrne U of FL
University of Florida

Dr. Byrne's laboratory and research is focused on understand the pathophysiology of inherited cardio-skeletal myopathies and therapeutic strategies using gene therapy. Specifically, his lab has developed novel gene therapies for neuromuscular diseases such as Pompe disease. They have used AAV vectors to achieve sustained correction of the gene deficiency in Pompe disease models, leading to restoration of contractile and metabolic function of striated muscle and motor nerves. Their approach is now being evaluated in a human clinical trial investigating the safety and efficacy of direct gene delivery to the diaphragm. Most exciting for our community, the methodology they have applied to test respiratory motor performance holds promise for quantifying respiratory muscle function in other severe pediatric neuromuscular disorders, including X-linked MTM.  

Know your target audience. 
Barbara Smith PT, PhD U of FL

Those of you who attended in 2011 will remember Dr. Barbara Smith, PT, PhD, who served as a consultant to Dr. Childers with regard to pulmonary testing in ventilated patients.  She has continued studying the effects of respiratory motor training, in order to facilitate recovery for patients with neuromuscular disease and impaired breathing.  Her work includes respiratory muscle testing in ventilator-dependent children with Pompe disease as part of a clinical trial of intramuscular gene therapy to the diaphragm.  Dr. Smith has additional experience with XLMTM, nemaline myopathy, and Duchenne muscular dystrophy, all of which is most valuable for our community.

With 18 years of clinical practice and 5 years of full-time research experience, her specialty in respiratory muscle assessment will be an asset for collecting and interpreting the preclinical respiratory data and preparing translational clinical trial outcomes that are feasible for patients with neuromuscular diseases.


Lee Ann Lawson, BSN MSN U of FL

Lee Ann Lawson's career focus has been to improve the care of children with severe pediatric diseases.  During the past 5 years, she developed extensive experience coordinating large trials with interdisciplinary teams and facilitated the IRB and IND approval process for a current clinical trial of diaphragm gene therapy for children with Pompe disease.   Ms. Lawson has collaborated with Dr. Byrne and Dr. Smith on previous studies involving respiratory muscle testing and home visitation in ventilator-dependent children with Pompe disease.


Additional team members from the University of Florida that will be attending throughout the weekend to assist include:  Terry Sexton, ARNP, Clinical Program Coordinator; Danny Martin, PhD, Professor of Physical Therapy; Markus Renno, MD, Pediatric Fellow; and Manuela Corti, PhD, PT, Postdoctoral Research Assistant.


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We encourage all of our families to take advantage of the opportunity to meet with the University of Florida team at the conference. Remember to contact them by July 5 to schedule a meeting time during the conference weekend. 

And if you haven't already, remember to reserve your hotel rooms by June 26th!


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