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If the needle biopsy would give the same info about quantity/quality of dystrophin, wouldn't they use it in the clinical trials?
I do know that a skin biopsy can give more info for exon skipping (for example if there is "natural" exon skipping even though the mutation is out-of-frame; they can grow the cells and see if your son is a candidate for exon skipping etc.), maybe Eric Hoffman was referring to that?
I know what Hoffman is referring to. Our son is a good candidate for exon 51 skipping since he is out of frame. He's missing 48, 49 and 50. 47 doesn't fit into 51, but is fits into 52. Hence the skipping 51 is perfect. But before any child can be accepted into the trials, it must be determined if it's a Becker or Duchenne. Our son is very a-typical for Duchenne since he is now 9 and completely active and showed no red flags until he was 8. But the needle biopsy or punch biopsy is a perfect alternative to the super invasive muscle biopsy which is unnecessary these days. If it is determined that our son has Becker - he will be unable to be included in the trials.
I'm just trying to find anyone who may know of a doc that will do a punch biopsy as our doctor seems to be dragging his heels because he is totally overworked.
Thanks for your thoughtful replies...
Ofelia Marin said:If the needle biopsy would give the same info about quantity/quality of dystrophin, wouldn't they use it in the clinical trials?
I do know that a skin biopsy can give more info for exon skipping (for example if there is "natural" exon skipping even though the mutation is out-of-frame; they can grow the cells and see if your son is a candidate for exon skipping etc.), maybe Eric Hoffman was referring to that?
Ofelia, As the exon skipping trials come on-line, I would assume the biopsy (pre and post) will be included in the protocol. In the 124 and exon skipping phase 1 (prosensa/avi), open biopsies were done because it was believed to provide a better sample for evaluation. Because biopsy will be part of the screening process for these trials, it may be worthwhile to wait, rather than run the risk of a needle/punch biopsy and the need for another procedure. Your son's genetic testing should be sufficient to consider him for screening.
I would not argue with Eric Hoffman as he is the expert, but the reality is that the specific type of biopsy required will be in the hands of the those designing the protocols.
I am sorry you are having such trouble in DC. It seems the major centers are becoming overwhelmed with patients/families which compromises the amount of time available for any one patient.
The good news is that the exon skipping trials are on the horizon!
I hope you are surrounded by those you love this holiday season.
Warm regards,
Pat
Dr. Hoffman just hired Dr. Petra Kaufmann, from Columbia University, to Children's National Medical Center.
Do you read from Marie Pichaske's blog? Here is a bit about her. I think you'll feel relieved once you read about her history.
http://genmedlabmom.blogspot.com/
It's my understanding Dr. Kaufmann will run the clinical trials at CNMC.
Our son had a muscle biopsy done at JHH ( Johns Hopkins Hospital) but not the type of procedure you are looking into. He had the more invasive type done. Why don't you call them and see if they do the punch biopsy. Better yet, email Sarah Kaminski and ask her to look into it for you. You don't have to proceed with doing it but at least you have gotten your feelers out...
Pat, you bring up a good point in that one exon skipping trials begin, those centers participating in exon skipping trials will become even more flooded. How are these centers preparing to deal with this overflow of admissions so-to-speak?
You missed my point here. We are at Children's in DC with Hoffman, Sarak K and Dr. Leshner. They do not do them yet - at least Dr. Leshner doesn't. He is working on it and should be able to do it in about three months.
Tina said:Dr. Hoffman just hired Dr. Petra Kaufmann, from Columbia University, to Children's National Medical Center.
Do you read from Marie Pichaske's blog? Here is a bit about her. I think you'll feel relieved once you read about her history.
http://genmedlabmom.blogspot.com/
It's my understanding Dr. Kaufmann will run the clinical trials at CNMC.
Our son had a muscle biopsy done at JHH ( Johns Hopkins Hospital) but not the type of procedure you are looking into. He had the more invasive type done. Why don't you call them and see if they do the punch biopsy. Better yet, email Sarah Kaminski and ask her to look into it for you. You don't have to proceed with doing it but at least you have gotten your feelers out...
Pat, you bring up a good point in that one exon skipping trials begin, those centers participating in exon skipping trials will become even more flooded. How are these centers preparing to deal with this overflow of admissions so-to-speak?
Hi
Can't a sequenced gene give similar info as a biopsy? I understand biopsies for research, but not qualifying for a trial. Maybe I am not understanding why you want to get the biopsy? I am sorry you are feeling so underserved at Children's DC. Is there somewhere else you can go?
Karen
Exactly. Thanks Pat. We decided that it is too early to do any kind of biopsy at this point. When the exon skipping trials start, the biopsy will be part of the screening process.
Pat, do you know how soon the Prosensa's trial will be completed and the results available? Also, I heard that Eric Hoffman & AVI plan to go to trials with the new PPMOs next year. Is this something you are aware of?
Pat Furlong said:Ofelia, As the exon skipping trials come on-line, I would assume the biopsy (pre and post) will be included in the protocol. In the 124 and exon skipping phase 1 (prosensa/avi), open biopsies were done because it was believed to provide a better sample for evaluation. Because biopsy will be part of the screening process for these trials, it may be worthwhile to wait, rather than run the risk of a needle/punch biopsy and the need for another procedure. Your son's genetic testing should be sufficient to consider him for screening.
I would not argue with Eric Hoffman as he is the expert, but the reality is that the specific type of biopsy required will be in the hands of the those designing the protocols.
I am sorry you are having such trouble in DC. It seems the major centers are becoming overwhelmed with patients/families which compromises the amount of time available for any one patient.
The good news is that the exon skipping trials are on the horizon!
I hope you are surrounded by those you love this holiday season.
Warm regards,
Pat
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