November 2013
Happy Thanksgiving!

2013 MTM-CNM FC photo by Sergio

It's that time of the year for counting our blessings and celebrating with hearts full of thankfulness and with bellies full of delicious food! Our MTM-CNM community has a great deal to be thankful for: we have wonderful researchers making huge strides forward in developing medical technologies with great potential to treat MTM-CNM! 

At the 2013 MTM-CNM Family Conference in Bloomington, MN, we heard about one of the critical ways individuals with MTM-CNM can contribute to the important work being done in the medical community, which is by participating in family registries. 

MTM CNM Registry The Myotubular and Centronuclear Myopathy Patient Registry

Although Anne Lennox couldn't be with us in person, our conference team was delighted to share her informational video about the MTM and CNM Patient Registry at our conference this past July. The video is currently being updated and will soon be placed back up on the Myotubular Trust website. 
From the registry Welcome page: "The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as 'MTM and CNM Registry') is an international database specific to our condition. It is managed from the UK and operated by Myotubular Trust. The registry has been developed in partnership with TREAT-NMD and with a number of leading neuromuscular researchers
  • This patient registry will:

    ■   Help identify patients for relevant clinical trials as they become available

    ■   Encourage further research into myotubular and centronuclear myopathy

    ■   Provide researchers with specific patient information to support their research

    ■   Assist doctors and other health professionals by providing them with up-to-date information on managing myotubular and centronuclear myopathy, to help them deliver better standards of care for their patients   

  • We welcome the registration of:

    All patients, with a myotubular myopathy or centronuclear myopathy diagnosis, which has been confirmed via genetic testing or muscle biopsy.
    Any carrier females of x-linked myotubular myopathy, especially if they have manifested myotubular myopathy type symptoms. 
    Any patient who is deceased, but who had a confirmed diagnosis. 
    Any patient who wishes to receive information only.

    Our aim is to make our registry the most comprehensive there is for this specific condition, to give us a good insight into the numbers of people affected. Join Now."


Please visit the website to sign up and to learn more!


Paul and Alison Frase with Alex Bauer
Family Registry for Centronuclear and Myotubular Myopathies

Paul and Alison Frase of the Joshua Frase Foundation have long been pioneers in bringing attention to and raising funds for research in treating and curing MTM-CNM and other rare myopathies! We were very thankful to have them with us at the MTM-CNM Family Conference to enjoy time with families and also to share about the vision they share for an international registry and global map. You can watch Alison and Paul speaking at the conference in this video.

From the JFF website: "The purpose of this CNM/MTM global patient registry is to create an investigator-patient relationship in order to establish better estimates for the number of affected individuals living with CNM/MTM. This registry will allow researchers to better understand the disorder, and locate subjects for clinical trials. If you or a family member is affected with CNM/MTM, or your loved-one is deceased, please register here. This information is crucial for helping us to understand the demographics of our community. If you know of anyone affected with CNM/MTM, please direct them to this website and ask them to register. Your privacy is important to us and your personal contact information will be protected on an encrypted platform. As this patient registry is designed to identify patients for clinical trials and or research studies, your de-identified information will be shared with select members of the research community and the Joshua Frase Foundation Scientific Advisory Board (JFFSAB). You may view the JFFSAB here.

Once registered you will receive email updates on research progress and clinical trial opportunities as they become available.


Once your registration is complete, your de-identified pin will be added to our global map upon your approval and your information will be kept in a secure database."

Please register is literally takes less than five minutes!!


Sabine de Chastonay Congenital Muscle Disease International Registry (CMDIR) 

On Sunday, Sabine de Chastonay, BA, PhD, of the Congenital Muscle Disease International Registry (CMDIR) spoke at the MTM-CNM Family Conference 2013. In this video, she discusses the importance of participating in registries, such as the CMDIR, in pushing forward research. 

Sabine also discussed two studies being sponsored by the CMDIR:

1) MTM Genetic Testing study which can help you get genetic confirmation if you are a male or female registered with the CMDIR and have an MTM diagnosis through muscle biopsy 

2) MTM Events Study for genetically confirmed males registered with the CMDIR, which involves a 30-45 minute phone interview about the patient once a month for a 12 month period.

Let's get involved, families! The first step to participating in the two above studies is completing the intake survey and registration on the CMDIR at


As we sincerely wish you all a very happy and healthy holiday season, I recall the remarks of Albert Schweitzer, who said, "At times our own light goes out and is rekindled by a spark from another person. Each of us has cause to think with deep gratitude of those who have lighted the flame within us." We are deeply thankful for the spark of light that each of you brings to help our community to shine like the stars! 
Warmest regards, 

The MTM-CNM Conference Planning Team!


P.S. Now go eat some turkey and pie!