MTM: Genetic Testing Study Open

A study seeks people suspected of having myotubular myopathy who have not yet had their MTM1 gene mutation confirmed by a clinically certified lab

Article Highlights:
  • A study to identify or confirm myotubular-myopathy-causing mutations in the myotubularin (MTM1) gene is open to participants who meet inclusion criteria.
  • The study is sponsored by Cure CMD, in collaboration with Valerion Therapeutics (formerly 4s3 Bioscience), which is developing an experimental treatment for MTM, and three institutions.
  • The testing will be performed on a sample of saliva, and on a sample of blood only if saliva sample testing does not yield conclusive results.
by Margaret Wahl on April 19, 2013 - 5:00am

Update (May 2, 2013): The names of the collaborators on this study were updated.

Cure CMD, in collaboration with the Congenital Muscle Disease International Registry (CMDIR), Valerion Therapeutics (formerly 4s3 Bioscience), the University of Chicago, and Boston Children's Hospital, is sponsoring a study to conduct genetic testing in people who may have myotubular myopathy (MTM), a form of centronuclear myopathy (CNM).

The development of experimental treatments for MTM, now under way, makes identification of MTM patients by genetic testing more urgent than it has been in the past.

In 2010, MDA began supporting 4s3 Bioscience to develop a protein-based treatment for MTM. In 2011, the Association began supporting Martin Childers at Wake Forest University to develop a gene-based treatment for MTM.

To be included in the genetic testing study, participants must:

  • live in the United States or Canada;
  • be at least 1 month old;
  • be registered with the Congenital Muscle Disease International Registry (CMDIR);
  • have had a mutation in the myotubularin (MTM1) gene identified in a research lab but not confirmed in a clinically certified lab; or
  • have two of the following: a clinical history suggesting MTM; family history suggesting MTM; or biopsy suggesting MTM (centrally located nuclei, no signs of nemaline rods or cores):
    • with no prior genetic testing; or
    • with no mutation in the MTM1 gene found on conventional sequencing.

Participants will be asked to:

  • register with the CMDIR and complete the CMDIR Intake Survey;
  • provide written study consent;
  • provide access to medical records; and
  • provide a saliva or blood sample (if necessary) for genetic testing.

Test results will be communicated to participants by the physician they have designated on the consent form.

This study is not designed to diagnose a mutation in the MTM1 gene in mothers with or without symptoms.

For more information

To learn more about the study or to participate, contact Sabine de Chastonay at or (424) 265-0874.

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