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Permalink Reply by Lynne Nicholson on December 5, 2014 at 7:45am

Hi,

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://cureduchenne.com/blog/exon-skipping-as-a-potential-treatment...

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

http://support.cureduchenne.org/site/PageServer?pagename=september2...

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Permalink Reply by Yasha Singh on December 5, 2014 at 5:07pm

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.
Yasha

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Permalink Reply by Lynne Nicholson on December 5, 2014 at 5:41pm

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.

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Permalink Reply by Andrew Kerr on December 5, 2014 at 9:08pm

Yasha
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.

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Permalink Reply by Yasha Singh on December 6, 2014 at 1:36am

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.
Yasha

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