Hi Everyone,
My son Neil is 3.5yrs old. He was recently diagnosed with DMD. His mutation is duplication of exon 41.
I was wondering if we have other parents with exon duplication in this community? What path are you following in terms of supplements? Do you know if there is any research on for exon duplication, I could not find any.
Yasha and Kuldeep

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My 4 year old son has also recently been diagnosed with DMD. His first tests came back with a duplication of exon 19. However because only one exon was affected they have re-tested him because apparently when only one exon is affected it could be an artefact. I am still waiting for these results but am expecting the duplication diagnosis. As far as supplements go I don't think the mutation type determines what supplements you take. For now I have been prescribed VitD. I also want to look into other supplements.

Dr. Kevin Flanigan, principal investigator at the Center for Gene Therapy at Nationwide Children’s Hospital in Columbus is as far as I am aware the only one that has started on developing a therapy for duplication mutations using the same exon skipping approach that is currently being developed for deletions. Unfortunately this work is not nearly advanced as it's deletion counterpart.

Here are some links. Hope they help some.

http://www.cureduchenne.org/press/new-research-points-to-route.html (Lynne: brief press release)

http://cureduchenne.com/blog/duchenne-duplication-and-rare-mutations/ (Lynne: a webinar where he discusses his work on duplications)


http://www.nature.com/mtna/journal/v3/n3/full/mtna20148a.html (Lynne: excellent deep scientific detail)


Thank you Lynne. Did your neurologist suggest a repeat for the test? Mine did not say anything. I may request another one just in case. I think it is unfair that duplication is getting less interest, in terms of research.
Yes Yasha - well actually my genetic counselor but in consultation with the lab and neuromuscular paediatrician. I suppose when only 6% of the dmd population have duplications as opposed to the majority that have deletions I can understand why - not that it doesn't still bother me.
There are some treatments in the works that would potentially help everyone with DID regardless of the specific mutation. We are hoping to get our boys on the myostatin inhibitor trials expected soon from Pfizer.
Thank you Andrew and Lynne. It is hard for us to believe that Neil has got DMD and on top of that a very uncommon one. I hope the research for all the DMD patients works well and we have a cute for our boys.

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