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