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Zee2A OP t1_j0vnc1l wrote

The clinical trial results were published on December 15 in The New England Journal of Medicine:


sighbourbon t1_j0vw9r8 wrote

I wonder if eczema and psoriasis might be next


you_dont_know_jack_ t1_j0xnu2f wrote

Not for this drug I think. Looks like it just restores COL7A1 function which doesn’t seem to be related to eczema or psoriasis


dogwoodcat t1_j10os35 wrote

No but the same principle might be applied these diseases if the faulty genes are identified.


Unwarranted_optimism t1_j0wrvge wrote

This is amazing! Dystrophic epidermolysis bullosa is truly awful. Curious if the treatment can be used in the mucosal membranes as well to mitigate the malnutrition and anemia. Thanks for sharing!


rclaybaugh t1_j0x6l0z wrote

Unfortunately only 1 of the participants had the dystrophic version of the disease, all others had the recessive, simplex version. I think we should hold off on full judgement until it's proven right. Though as someone with this, I'm very excited.

Edit: I'm wrong, disregard this comment


drareaman t1_j0xakgr wrote

According to the study “all patients had recessive dystrophic epidermolysis bullosa except for one who had dominant form.”


the_real_mvp_is_you t1_j0xeprg wrote

If this was treating EBS then the published results would have said that. Having DEB was definitely a criteria when they were recruiting. I saw the recruitment go out from DEBRA.


rclaybaugh t1_j0xkkf1 wrote

You're totally right, I was mistaken. Apologies


the_real_mvp_is_you t1_j0xpesl wrote

No worries. There are a lot of sub types of EB and it can be hard to keep them all straight if you're not living with it, or studying it.


Hurdy--gurdy t1_j0xj1s7 wrote

I would hope so. Trying to do oral surgery on a patient with EB was extremely challenging!


Zee2A OP t1_j0xds5m wrote

>Thanks for sharing!



bentlimerick t1_j0x1z9d wrote

Those are amazing results. Those confidence intervals for complete wound healing are awesome.

It's a shame that clinical trial results aren't given in a standard report card style that always shows the complete response rates and confidence intervals.

Some of these "butterfly" patients might even be able to get a decent hug thanks to these treatments.

There's a line at the end of the paper "Longer and larger trials are warranted to determine the durability and side effects of B-VEC for this disease." that kind of misses the point.

Trials just don't last that long. Fifteen years is about as long as they come.

The number of pediatric patients and the fact that they need this to work for their whole life and the fact that this could dramatically increase their life expectancy really does highlight how we need a way to follow them for another 50 years or more.

It's crazy that we have modern medical technology like gene therapy but we're still doing clinical trial tracking as if the internet and databases weren't invented and everything is being kept in manilla folders.

Kids have social security numbers. Kids with this kind of condition often get submitted for disability through social security. All of these patients were registered to a clinical trial that is tracked by the NIH. It really shouldn't be that hard whether with an opt in or an opt out system to set things up so that trial arm information can be checked against disability information on an annual basis.


DerBassSpieler t1_j0xwjc7 wrote

There are countries where such databases exist for citizens though, like in the scandinavian countries. Trials conducted there would have the long-term data that you're wishing for.


anotherone121 t1_j0zwenj wrote

>There's a line at the end of the paper "Longer and larger trials are warranted to determine the durability and side effects of B-VEC for this disease." that kind of misses the point.
>Trials just don't last that long. Fifteen years is about as long as they come.

I suspect far shorter is fine. The concern around durability likely has to do with the vector used and the turnover of the tissue, transfected. Is the transgene being inserted as an epizome (doesn't multiply during cell replication... so gets diluted out over time) or is it integrating into the chromosome (--> safety concerns)? If it integrates, into what cell types, with what efficiency, and in what tissue layer, and how quickly do these turnover? In short, the clinical effect may be temporary.... quite temporary, depending on the technical details.


LePlaneteSauvage t1_j0xdrwi wrote

I have well medicated EBA. I haven't had any blisters for about a year now but I still have extremely fragile skin, particularly on my lower legs.

It is impossible to communicate just how painful this condition is. I would not believe it if I did not experience it myself. I have experienced a lot of pain in my life, but this is unbearable. The best analogy I can come up with is that it feels as if you are pushing a glowing ember against your skin when anything touches an open sore. This is particularly true for water which makes showering extremely difficult at times.

I just want to give this some context because "blistering skin condition" is really underselling it. I'm not a religious person, but God help anybody suffering from EB.


the_real_mvp_is_you t1_j0xfruz wrote

I have EBS localized that I inherited from my father. These study results are great news.

I've described walking on blisters like walking on coals or a bed of nails or broken glass. It's so much worse when they're in an area that cycles. I've had blisters last for three to four months in one area. I can still only imagine the pain that those with RDEB suffer from.

They call us all butterfly people, but my skin is tough as leather compared to theirs. And that's not even going into JEB.


sassyseven t1_j0wyxpt wrote

It blows my mind that they used the part of herpes that we normally think of as “bad” (evolved to evade human immune system) to their advantage


Heavy-Invite-3014 t1_j0wo6i2 wrote

I wonder how the face of a burn victim could and would recover with this treatment. That alone would improve the lives of burn-patients. I hope this is as good of a solution as is promised in this article!


pillspaythebills t1_j0wqgre wrote

This is targeted gene therapy- these patients all lack a gene to make a specific protein in the skin. This gel introduces the gene so the body can make the protein. It could also be helpful to treat burn patients, but there are a lot of complexities in burn treatment, and I’m not sure what part the specific protein (collagen VII) plays in burn or other skin pathologies.


Sefony t1_j0xbz4u wrote

I just typed out a whole comment to ask you a question, then decided I was going to be good and google it first. The answer was in the top few results. now I'm three wikipedia articles deep and enjoying the heck out of it. Thank you! I


pillspaythebills t1_j0xdcbb wrote

Glad you found an answer and that you’re enjoying the topic! Gene therapy is really an incredible field of medicine. I’m happy to answer any questions though.


montymatzinn t1_j0xpwc2 wrote

If you don't mind answering questions, could I ask how the gel introduces the gene? How does that take place? Sorry if this is a really simple question!


pillspaythebills t1_j0z6gfc wrote

Good question! The crux of gene therapy is getting the missing gene delivered to the right place in the body to ensure it gets integrated into the patient’s DNA, so gene expression can occur. Most gene therapy treatments leverage a modified virus to deliver the gene. For this particular treatment, the researchers are using a modified herpes simplex virus to introduce the gene to the skin cells.


Doctor_YOOOU t1_j0x4r14 wrote

This is amazing. Gene therapies are being applied in more and more amazing ways.


BigHarryMC t1_j0xo64y wrote

We’ve got Bacta now. Dope


damon459 t1_j0whbjm wrote

Will anyone be able to afford it though?


silverbolt2000 t1_j0whx0u wrote

In the US? No.

Everywhere else in the world? Yes.


katarh t1_j0wy2s7 wrote

One of the trial participants is Italian, and now that the trial has ended, he's lost access to it. They're trying to get him emergency compassionate use authorization through the Italian government so he can have access again.


the_real_mvp_is_you t1_j0xf40w wrote

Insurance covers a lot of things for these people since most of those with RDEB are on Medicare.


damon459 t1_j0xiihn wrote

Medicare itself does cover prescription drugs, you need a part D plan and believe me they have no good options, I know as I was on disability for 18 years and my employer sponsored health insurance is way way better and costs less.


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shadowbethoven t1_j0y128y wrote

What company was this? Or was this a university?


mascaraforever t1_j0y4q7f wrote

I followed two kids with the more severe version of this disease on IG. Both have since passed. Advances like this make me so happy but it’s bittersweet. If anyone is on IG, there’s an account called “Special Books for Special Kids” which features people with all kinds of different disabilities. The couple who run it are the most kind hearted souls and I’ve learned so, so much from it.


Foundation-Used t1_j0wxpw2 wrote

Wonder if this will work for Haley Haley


Rombledore t1_j107hxi wrote

and it will cost $70k per use and will not be covered by insurances due to it being a "new to market therapy" with other alternatives available for use.


Pinky01 t1_j0wpgh3 wrote

also imagine how well this will work for burn victims. gel is soothing and preve to disease to barrier and then eith the gene therapy. this could be a game changer