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International Family Registry for Centronuclear and Myotubular Myopathies
The International Family Registry for Centronuclear and Myotubular Myopathies
Welcome to The International Family Registry for Centronuclear and Myotubular Myopathies!
The purpose of this registry is to continue to build our CNM/MTM community and accurately describe its demographics, and to create an investigator-patient relationship in order to allow researchers to better understand CNM/MTM and locate potential subjects for clinical trials. If you or a family member are affected by CNM/MTM, please register here!
If you have previously registered and would like to update your information, please contact the Registry Coordinator at connect@joshuafrase.org for a unique link to update your existing data.
The following individuals are eligible to be registered:
- Individuals affected with Centronuclear Myopathy (CNM)
- Individuals affected with X-Linked Myotubular Myopathy (XLMTM)- an X-linked version of CNM due to a mutation of the Myotubularin (MTM1) gene
- Female carriers of XLMTM
A separate registry entry should be completed for each participant
This is a voluntary contact registry. Consent to participate must be provided by an eligible adult participant or a legal guardian if the participant is under the age of 18 or is an adult who is unable to provide consent for him/herself. The participant may choose someone to help submit the registry information. Parents or a legally-authorized representative can also enroll on behalf of patients who are deceased.
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 consider registering.
Once registered, you may receive email updates on research progress and clinical trial opportunities as they become available. Your de-identified pin will also be added to our global map upon your approval- Global conscience ushers in change, are you pinned yet?
Please follow the link below to the registry consent form to learn more about your rights as a participant and how this information is used and stored.
**Register Here**
Thank you for you time and information. Alone we are rare, together we are strong!
*** Please Note: From 2016-2018 the Registry was a member of a consortium of rare disease registries through the NIH called the GRDR (Global Rare Disease Registry). Unfortunately, the funding for the GRDR project has now ended and therefore the Registry is no longer able to submit new data to the GRDR and the formal affiliation with the NIH/GRDR is no longer active.
Should you have any questions about the Registry and your participation, or you would like to speak to a genetic counselor, please contact the Registry Coordinator at: connect@joshuafrase.org. You may also refer to our Informed Consent FAQs