Deletion
Unsure if anyone can help with my query, but my nephew was diagnosed with Duchenne 2 years ago and he has a deletion of 8-21. His biopsy shows his phenotype is duchenne but his deletion shows he should have mild BMD. Hospital say he doesnt have another deletion elsewhere. Has anyone heard of this before, as we are still trying to understand why he would have DMD and not BMD. Could the hospital have missed anything??
Replies to This Discussion
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Permalink Reply by Darcy Tumminello on
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Lori Ware said:Trials for exon skipping are underway but it will be a while before they move much farther than 51. Look into Utrophin. it will work on all boys and is natural to our bodies. trials for it will begin in 09..
There are 2 researchers working on Utrophin, Kay Davies of the UK and Prosensa. Kay Davies is leading the way. there is also some good stuff coming for cincinnati childrens next year. Look at the conference summary for info about all upcoming treatments.
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Lori,
Where can I find the research info discussed at the conference?
Thanks
Darcy
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Permalink Reply by MicahsDaddy on
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The UK company is Summit Pls (formely VASTox) http://www.summitplc.com/SMT%20C1100%20DMD.htm.
The other looking into Utrophin upregulation, I think you meant PTC Therapeutics (Prosensa is exon skipping). Probably confused since talking about exon skipping and Utrophin at the same time. ;-)
Here is the link to some of the talks at Conference: Click here
Lori Ware said:Trials for exon skipping are underway but it will be a while before they move much farther than 51. Look into Utrophin. it will work on all boys and is natural to our bodies. trials for it will begin in 09..
There are 2 researchers working on Utrophin, Kay Davies of the UK and Prosensa. Kay Davies is leading the way. there is also some good stuff coming for cincinnati childrens next year. Look at the conference summary for info about all upcoming treatments.
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Permalink Reply by Tina on
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Lori Ware said:
Trials for exon skipping are underway but it will be a while before they move much farther than 51. Look into Utrophin. it will work on all boys and is natural to our bodies. trials for it will begin in 09..
There are 2 researchers working on Utrophin, Kay Davies of the UK and Prosensa. Kay Davies is leading the way. there is also some good stuff coming for cincinnati childrens next year. Look at the conference summary for info about all upcoming treatments.
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Lori,
What is the good stuff coming for cincinnati childrens next year?
Tina
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Permalink Reply by Lori Ware on
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Hey Tina,
If i told you what it is, I would lie...I know that it revolves around Utrophin and another chemical...I think called C1100 or something like that. I know that at conference they were talking, going over all the upcoming trials (and there are several in 09 planned), but the one in Cincy seemed to me to be the one with the best results, especially in conjuction with some of the others coming down the pike. I would recommend that you look through the link given by 'michasdad' and read about it. I am sure others can give you a good answer!!
Lori
Tina said:Lori Ware said:
Trials for exon skipping are underway but it will be a while before they move much farther than 51. Look into Utrophin. it will work on all boys and is natural to our bodies. trials for it will begin in 09..
There are 2 researchers working on Utrophin, Kay Davies of the UK and Prosensa. Kay Davies is leading the way. there is also some good stuff coming for cincinnati childrens next year. Look at the conference summary for info about all upcoming treatments.
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Lori,
What is the good stuff coming for cincinnati childrens next year?
Tina
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SMT C1100 is the Summit Pls utrophin drug. i am blanking on what Cincy mentioned right now...
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Cincy was working with someone on it....maybe Summit.
MicahsDaddy said:SMT C1100 is the Summit Pls utrophin drug. i am blanking on what Cincy mentioned right now...
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Permalink Reply by Jeff Sobel on
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Let me respond generally to your questions. Blood/genetic testing (which includes standard commercial tests and more sophisticated sequencing) tells you varying degrees of information regarding what is going on in the gene. The biopsy gives information on what the result of a genetic defect is on the condition of the muscle and, if staining is performed, whether the muscle contains dystrophin. The genetic testing has substantial predictive value in many, if not most, cases. But even sequencing cannot always accurately predict whether the muscle will contain any dystrophin. While there are different opinions on whether the biopsy is essential, there is no other way to specifically evaluate how damaged the muscle is and whether any dystrophin is being produced. How much blood testing is required depends on the nature of the defect (large deletion, point deletion, etc), but the more dna info you can get, the better. As a parent, I personally would want (and did get) at least one biopsy at the time of diagnosis. No or very little dystrophin=duchenne.
Jeff Sobel said:Tulika said:Hi,
Need someone to clarify my understanding. I have listed these below, can someone comment, if any of these is worng.
1. When doing the tests, first all exons are tested for deletion or duplication. If deletion or duplication is found then it is confirmed by another genetic test. Only after these two tests is the first report given on exon deletion or duplication.
2. If no deletion or duplication is found then gene sequencing is done to find out things like point mutation.
3. Only if genetic tests do not confirm and co-rellate to observations, then we need to go for a biopsy to actually look at the muscles under a microscope. Biopsy will also help if the deletion is in frame and length of the dystophine needs to be determined.
4. If genetic tests have confirmed a out of frame deletion or duplication then there is no need of a biopsy since there will be no dystrophine.
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