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Comment by Sai Chand. Gurujala on February 10, 2017 at 4:23am

My Nephew age is 7.5 years.

Hemizygous Duplication of Exons 2 - 4.

MLPA probe ratio : 1.83 - 1.98

CPK level - 12100

Please can anybody tell, When the complete treatment can be expected please

Comment by Char Burke on August 22, 2011 at 10:02pm

I believe Seph Ware - google in PPMD - has thyroid as well as DMD.  Char Burke

Comment by semra inanç on August 15, 2011 at 9:14am

Hi Char,

Thanks for answer,I'm already a member this group. I have  a question in my mind. My son is 5 years old. And his doctor started prednisolen 6 month ago. Another an endocrine doctor we have, He told us that my son has thyroid resistance already so, if we give to him cortisone without treatment thyroid resistance, Prednisolen is not enough and effective for him .

The use of cortisone, thyroid function more breaks......On the contrary, according to my oppinion; This is a vicious circle.. 

 

Question is; Immediately after the start of treatment with cortisone, İs there any boy who is diagnosed with thyroid resistance?  

Comment by Char Burke on August 12, 2011 at 9:35pm

I had emailed Sharon Hesterlee about duplications and specifically personalized medicine re duplications.  She said that I could share the email so I thought I would.  Here you go. 

Hi Char:

It might be possible to address duplications (small ones) with exon skipping--Steve Wilton is working on that now in his laboratory.  There is also a new technology that might allow us to chop out large pieces of the dystrophin gene that include duplications and replace those pieces with normal dystrophin sequence--I met with a company that is developing this technology called Precision Biosciences when I was at the Biotechnology Industry Organization meeting last month.  We will likely invite them to apply for an exploratory grant to see what they can do with the dystrophin gene--this approach would actually be a permanent correction since they correct the gene itself, not the RNA message like in exon-skipping.

Beyond the specific approaches there are a large number of therapeutic approaches that are not mutation-specific that would be applicable to duplications including gene therapy, blocking myostatin, upregulating IGF-1, upregulating utrophin, using cardiac drugs like spironolactone very early (evidence now shows you get skeletal muscle benefit and cardiac benefit in mice started very early on these drugs--losartan and cialis could be in that category as well).  At the scientific meeting we had before the main Connect Conference this year we also discussed using arthritis drugs like remicade and some cancer drugs that have looked promising in the mdx mouse.

So none of these approaches (including exon-skipping) are likely to be a complete home run.  It's very likely that we will end up using a cocktail of drugs to get the best effects--much in the same way cancer or AIDS is treated.  I guess my point is that you don't have to pin your hopes on a specific therapy to address duplications--there are really only a few things in development that WON'T address duplications  (exon-skipping, ataluren).  Almost everything else will.  Does help answer your question?  Also, fee free to post this on the duplications list if you think it's helpful.

Sharon

From Char Burke to Sharon Hesterlee

Comment by Char Burke on August 12, 2011 at 9:27pm

Hey Semra - there is another data group for duplications - please join that one - it has over 48 members.  There are alot of boys with the duplication in the beginning of the exon - it's in fact one of the hot spots.  I have heard that there are boys - brothers with the same mutation and the are very different.  I think there are many factors that effect the severity and course of the disease.  Best and thanks for joining.  Char Burke

Comment by semra inanç on August 11, 2011 at 5:42pm

Hi everyone, yiğit has exon 2 duplication and 5 years old. is there anyone like yiğit????

Comment by Katherine Blake on February 3, 2011 at 12:50am

Hi Cathy - I haven't seen any activity in this group.  Try the other duplication group...

Comment by Cathy Johnson on February 2, 2011 at 3:09pm

I've been involved in other discussion groups but just recently stumbled on this one.  Would love to chat about anything you may know.