Critical Research on CNM is Ongoing

Your family's participation is critical, especially with such a rare disease.

Here is a list of many research opportunities for you to get involved in.  Participation in some can even be done from the comfort of your home.  

1.  Register with the CMDIR.

2. Enroll at the Beggs lab at Boston Children's Hospital/Harvard.

Attention: Casie Genetti, MS, CGC
The Beggs Laboratory
Division of Genetics
Boston Children’s Hospital
3 Blackfan Circle
CLSB 15031
Boston, MA 02115

Tel: 617-919-2169
Fax: 617-730-0786

3.  Joshua Frase Foundation International Patient Registry using geotagging - Where are you on the map?  Register here.

4.  MTM/CNM International registry.

5.  MTM Genetic Testing Study. 

Myotubular myopathy (XLMTM) is an X-linked disorder caused by mutations in the myotubularin gene (MTM1).  Some people with XLMTM have been diagnosed clinically but have not had genetic testing.  Others have had genetic testing of the MTM1 gene but no change in the DNA was found.  The purpose of this study is to provide genetic testing to those children and adults who have symptoms of XLMTM and a muscle biopsy that confirms a centronuclear myopathy who have either not had genetic testing or have had genetic testing that came back negative.  Getting a genetic diagnosis is important to participate in future clinical trials.

​6.  Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy (MTM)

​7. MTM1 Carrier Survey click here.

Click here for more information MTM Studies.