Duchenne Carrier Study

 

Nationwide Children's Hospital in Columbus, Ohio is conducting a study of women who are carriers of Duchenne.  

The study will include 200 mothers of children who have a confirmed diagnosis of Duchenne/Becker.  If mothers have not had genetic testing to determine Glossary Link carrier status, this will be the first step and will determine which group ("cohort") they are put into for the study:

  • 150 moms who are found to have the genetic Glossary Link mutation in their blood ("somatic carriers") will be enrolled (cohort A).
  • 50 moms who do not have the genetic mutation in their blood, but who have children with Duchenne/Becker and are assumed to have the genetic mutation in their ovaries/eggs ("germline mosaic carriers") will also be enrolled (cohort B).

The study will compare the results of these 2 groups with each other, as well as with 50 moms who do not have children with Duchenne/Becker - "age matched controls" (cohort C).

If you are a mother with a child who has been diagnosed with Duchenne/Becker, and would like to participate, please contact one of the study coordinators:

  • Markus McColly: This email address is being protected from spambots. You need JavaScript enabled to view it. 
  • Daniel Jenkins: This email address is being protected from spambots. You need JavaScript enabled to view it. 

Read a blog by PPMD's Kathi Kinnett to learn more about this study.