Does anyone out there know of any who will perform a needle biopsy or "Punch" biopsy? I found out from the renowned Dr. Eric Hoffman that full blown muscle biopsies are not necessary any longer and that all required to gain a good sample is done through the punch biopsy. Dr. Leshner, at Children;s in DC has done nothing more than give us the run around about this procedure. He dais he used to do them all the time when he was on staff at a hospital in Richmond. The best care for our son - Dr, Leshner is way to overworked to even care about our sons. His lack of "getting things done" is extremely compromised and he delivers nothing more than lip service, in our opinions. It's almost like, well your son will die so why rush into anything. My son is now 9 and in perfect health. Continually, he runs, jumps, swims, rides horses and plays all day. Not only that, he is an excellent student in school. According to Dr. Hoffman, boys with DMD do not run at age 9. Our son does. They are about to begin the exon skipping trials and our son will be unable to get on if the biopsy is not done and why do the full blown thing if just a punch is needed? We are so incredibly unhappy with the treatment at Children's in DC. Dr. Leshner is just way too overworked to even give a damn.

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This would be great if they could do this! I haven't heard of it being done this way myself, but then we have the technology so why shouldn't it be possible? I am hoping to get James on a PTC124 trial here in the UK, but the biggest turnoff is the biopsies. He's already had one to confirm diagnosis, so I don't want to put him through it again.
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
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?
Irishgirl,

The problem is that exon skipping will not work for all boys with out-of-frame mutations who would be qualified for skipping 51. Before they decide if a boy is a good candidate for skipping 51 they need to check a few things, the beginning and end of deletion in the introns being one of them. For example, if the mutation starts or ends in the introns too close to the splicing sites that might interfere with the skipping, so even though the boy qualifies in theory (b/c of his specific deletion) exon skipping might not work for him. The best way to check if the boy is a good candidate is a skin biopsy or muscle biopsy. After a skin biopsy, they grow the cells in the lab and then try to skip 51. Only then they can be certain that the boy is a good candidate.

I did read a lot about this and talk with Steve Wilton, my son has a deletion of exon 50 and I wanted to be "sure" that he is qualified for skipping 51. It turns out that we cannot know for sure until we do the skin biopsy and send it to Hoffman or Wilton for testing.


Ofelia

irishgirl said:
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
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
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?
At this point, I certainly would not put my son through the full blown biopsy, but the punch biopsy is so simple and nearly pain free. As I already stated, our son is 9 and never exhibited DMD symptoms until after age 7.5. He reached all milestones on or before time. According to the genetic test results, he is placed into DMD category, but according to Dr. Hoffman, DMD boys do not run at my son's age. While they are still mobile, some of them, they don;t run. There is something going on here with our son that is not typical. There are so many varying degrees of this MD that it can be quite mind boggling. Our son may be doing some of his own exon skipping naturally. If that is the case, he will have Becker and unable to be included in the trials. I need to know exactly what we are dealing with so I can proceed accordingly and a punch biopsy seems to be a great idea. If my son were 3 or 4, I would feel differently, but he's not and he runs, jumps, rides horses - something is up. I did just meet someone who lives in MD and has a son with DMD, yes, DMD. The man is 27 and still walking a little bit. He's a CPA and that is totally awesome...

irishgirl said:
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?
Karen: Can you tell me what this sequenced gene is? Is it a blood test?

Karen said:
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
According to Dr. Hoffman, the Prosensa's trial should be avoided as the Rx they use is old and not strong enough.

Ofelia Marin said:
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
You understand - thanks. I have called around and Sarah works with Dr. Leshner - she is his right hand so to speak. The new Dr. will be on the research side - so I don't see Dr. L's load getting much lighter as he will still be doing the clinical work. I just don't know of anyone else who can actually do a punch biopsy.
I'm just in one of those anxious moods.
Every once in a while I need to vent and it's a god thing PPMD is here.

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