MTM-CNM Family Conference Newsletter
July 2013 no. 1
In This Issue
James Dowling, MD, PhD
Kimberly Amburgey, MS, CGC
Laurent Servais, MD, PhD
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The team will be inviting patients and families diagnosed with MTM/CNM to continue or begin participation in the Natural History study. The purpose of the study is to better understand how the symptoms of MTM/CNM change over time and find targets for new treatments. The team is recruiting living patients as well as those who have passed away. Participation includes filling out a survey, drawing out the family tree, and collecting medical records. This year, the team is adding two new components to the study. The first component will be performed in collaboration with Dr. Laurent Servais. Dr. Servais will be using new tools to test muscle strength in patients with MTM. The second component is the collection of blood for biomarkers in patients with MTM. Biomarkers are markers in the blood that help researchers track disease progression and test the effectiveness of a medication. These new components are not required for participation in the study, but highly encouraged.

If you are interested in learning more about the Natural History study, please contact Kim Amburgey by email or by phone (734) 647-9224.  You can also check out their website. For those who have already enrolled in the study, you will be contacted directly by the team for instructions for continued participation.


Returning to the conference this year is the team of researchers from the University of Michigan!  The team is led by Dr. James Dowling.  His research focuses on better understanding congenital myopathies, in particular Myotubular and Centronuclear myopathies, as well as finding new treatments for these conditions.


Now let's meet the team!


James Dowling, MD, PhD
James Dowling MD PhD

Dr. Jim Dowling is a pediatric neuromuscular specialist and researcher at the University of Michigan. His laboratory is dedicated to learning more about CNM/MTM. The Dowling laboratory uses zebrafish and mouse models of CNM to better understand how and why these diseases occur, identify new genetic causes and develop new therapies. One potential therapy to come out of his lab is a medication called Mestinon. Using CNM animal models, he identified problems with the communication between the nerve and muscle; Mestinon helps to improve this communication which in turn may lessen fatigue and possibly improve muscle movement in patients. In addition to research, Dr. Dowling is also the co-director of the Pediatric Neuromuscular Clinic, a Muscular Dystrophy Association (MDA) sponsored clinic. In this clinic, patients with a variety of nerve and muscle conditions including muscular dystrophies, congenital myopathies, and inherited and acquired neuropathies are evaluated and treated.



Kimberly Amburgey, MS, CGC

Kimberly Amburgey
Kimberly Amburgey is a genetic counselor in the Pediatric Neuromuscular Clinic at the University of Michigan.  In the clinic, she arranges genetic testing for patients with congenital myopathies, helps them navigate the diagnostic odyssey, and helps patients and families understand the implications of positive test results.  Her clinical research focuses on congenital myopathies, including CNM/MTM. She has been involved in studying the prevalence of congenital myopathies in southeastern Michigan, the first prevalence study done in the United States.  At the CNM/MTM family conference, Kimberly will be recruiting for the natural history study.  This study will track the progression of disease over time and help to identify potential targets for future clinical trials.


Kimberly Creamer
Kimberly Creamer Univ of Michigan Kimberly Creamer is the clinic coordinator for the Pediatric Neuromuscular Clinic at the University of Michigan.  Her role in the clinic is to coordinate care and act as the main point of contact for patients and their families.  In addition to her clinical roles, she is also involved in several clinical research projects.  Similar to the last CNM/MTM family conference, she will help enroll participants in the Natural History study.


Laurent Servais, MD, PhD

Institut of Myology, Paris, France

Dr. Laurent Servais Institut of Myology France Collaborating with the Dowling Lab Team is Laurent Servais, MD, PhD. Dr. Servais is a child neurologist working in the Institut of Myology, in Paris, France. He is the head of the Clinical Trials and Databases service. Together with Genethon (France), Valerion (US) and Dr. Jim Dowling (University of Michigan), he is preparing a natural history study using innovative methods to longitudinally measure strength and function of patients with XMTM in Europe and in US.


We are so excited for the return of Dr. Dowling's Team and also for Dr. Servais joining us at this year's conference! We encourage all of our families to take time to get to know them and to learn more about their work for our affected loved ones!

The MTM-CNM Conference Planning Team!
MTM/CNM Family Conference