A privacy-protected registry and global map using geographic tagging of people with centronuclear/myotubular myopathy is being developed to speed research
A patient registry and world map of people with centronuclear myopathies (CNM), including myotubular myopathy (MTM), are being developed and are seeking participation from people with these disorders or their family members.
The Family Registry for Centronuclear and Myotubular Myopathies and Global Map, in development under the auspices of the Joshua Frase Foundation in collaboration with other organizations, are designed to allow researchers to better understand CNM/MTM and locate participants for clinical trials and other research studies.
The registry site, developed in collaboration with the University of Florida, will initially make possible a study of the "natural history" (how the diseases progresses) of MTM.
Privacy will be protected, and de-identified information will be shared only with selected members of the research community and the Joshua Frase Foundation Scientific Advisory Board.
Registrants will receive email updates on research progress and be notified of trial participation opportunities. A de-identified "pin" will be added to the CNM/MTM global map after a participant has given his or her approval for the posting.
"This information is crucial for helping us to understand the demographics of our community," says the Foundation's website. "If you know of anyone affected with CNM/MTM, please direct them to this website and ask them to register."
Alison Frase, vice president of the Joshua Frase Foundation, adds, "Information from families who have unfortunately lost a loved one to CNM/MTM is also vital to the outcome of this research. Please register all affected individuals, living or deceased."
MDA-supported MTM research
Research in CNM, particularly MTM, is moving ahead quickly, much of it with MDA support.
In April 2013, MDA awarded a $1.2 million, two-year grant to Concord, Mass., biotechnology company Valerion Therapeutics for development of a protein-based therapy to treat MTM.
In April 2011, the Association awarded $369,365 over three years to Martin Childers, then at Wake Forest University School of Medicine, to develop gene transfer therapy for MTM. Childers has since relocated to the University of Washington School of Medicine in Seattle and is on the scientific advisory board of Audentes Therapeutics, a San Francisco biotechnology company developing gene transfer for MTM.