Cure CMD, in collaboration with the Congenital Muscle Disease International Registry (CMDIR), Valerion Therapeutics (formerly 4s3 Bioscience), the University of Chicago, University of Michigan 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:
Participants will be asked to:
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 firstname.lastname@example.org or (424) 265-0874.