6 ms·

The first commercial gene therapy to provide an outright cure

135 points by jerryhuang100 10y ago

isoprophlex 10y ago
I wonder how this scales to other single-defect diseases? After the initial R&D, do you just swap out one sequence of genetic material for another in order to repair other diseases?
- Natanael_L 10y ago
  Depends on the disease. Disclaimer, I'm not a doctor or researcher! YMMV Those diseases with active bad genes controlling the behavior of cells that are replaced at a fast rate would be more likely to effectively disappear after just the treatment, such as some blood or skin diseases. Those who changes how the body grows (like say skeleton growth or other cells with slow replacement) would still leave the body in the condition it was in just before the treatment. They would effectively be chronic unless you can simultaneously fix the existing faults using for example surgery or a secondary therapy. But they wouldn't continue to deteriorate in the cases where the continued activity of the bad gene drives the deterioration. And syndromes caused by genes that only had to be active once (like in childhood) and now is dormant won't get fixed by gene therapy (but it MIGHT prevent it from being hereditary, if properly propagated in the body)
- refurb 10y ago
  Take a look at Bluebird Bio and their gene therapy for beta-thalassemia. Great initial response, but then the effect wore off. The other challenge is repeat dosing. Many of these gene therapies use viral vectors that the body develops an immune response to. You can't dose a 2nd time unless you change the vector (or suppress the immune system).
Apfel 10y ago
As the article mentions, the pricing of this will be extremely interesting. The outright Hep C cure (Sofosbuvir/Sovaldi) was one of the big stories in pharmacoeconomics last year, which is very interestingly priced globally (Nice paywalled article discussing this - http://thelancet.com/journals/langlo/article/PIIS2214-109X(15)00156-4/fulltext http://thelancet.com/journals/langlo/article/PIIS2214-109X(1...)
baldfat 10y ago
The future is now - 1) Self-driving cars 2) Flights to Mars in the next 10 years 3) Gene Therapy and Crisper 4) Robots are actual real world discussions Happily no flying cars (We would all die), No AI yet (In the future AI I love and respect you and welcome your presence in our world) Gattaca - The film presents a biopunk vision of a future society driven by eugenics where potential children are conceived through genetic manipulation to ensure they possess the best hereditary traits of their parents. The film centers on Vincent Freeman, played by Hawke, who was conceived outside the eugenics program and struggles to overcome genetic discrimination to realize his dream of traveling into space. https://en.wikipedia.org/wiki/Gattaca https://en.wikipedia.org/wiki/Gattaca This is just the crack in the wall. Philosophy and Ethical questions will make this one of the biggest stories for the next decade or more.
- _yosefk 10y ago
  No manned flight to Mars in the next 10 years, I bet. (Why anyone would want that escapes me... Then again that is why I will be wrong, if indeed I will be.)
  - mintplant 10y ago
    I'm in favor of steps, big or small, toward lessening humanity's total reliance on the viability of life on a single planet.
    - duaneb 10y ago
      Sure. I have no idea where the (vanishingly unlikely) 10 year window is from, though. It would be suicide for all the passengers.
    - _yosefk 10y ago
      Humanity being its own only remotely dangerous enemy, I never understood how more planets help.
      - MawNicker 10y ago
amelius 10y ago
Question: can this type of gene therapy be reversed?
- maxerickson 10y ago
  The procedure in the article could not be repeated to reverse the effect. Once the altered stem cells take hold in the body it would be necessary to destroy them to reverse the effect. It could later become possible to undo the procedure using some method that was able to alter the cells in the body.
synapticfire 10y ago
Another promising gene therapy, close to being submitted to the FDA for approval, has been developed by Ohio State University, Nationwide Children's hospital, and Avexis for the treatment, and possibly cure, of Spinal Muscular Atrophy. https://avexis.com https://avexis.com If you have not heard of SMA, you should look it up. I had not heard of it until my 2 month old son was diagnosed. http://www.curesma.org/sma/about-sma/ http://www.curesma.org/sma/about-sma/
- rsync 10y ago
  "Another promising gene therapy, close to being submitted to the FDA for approval, has been developed by Ohio State University, Nationwide Children's hospital, and Avexis" I would be very interested to know how the economics of that work out. Is this a classic case of the costs and risks publicized (OSU) and the profits privatized (Avexis) ?
  - synapticfire 10y ago
    I believe with so called "Orphan diseases" the economics of research and eventual market release rarely work out for private companies. I believe it takes a research phase funded by charities, grants, and tax breaks for companies to have any interest. As a family affected by this, whatever gets this to market. However, I am sure someone will make money.
- Frozenlock 10y ago
  As one of the unlucky ones with this disease, I'm very happy to see some advances made in the field. (Tho I've been hearing about promising advances for decades, without ever seeing any concrete result...) Did you find other organizations working on gene therapy for SMA?
  - synapticfire 10y ago
    I know of no other gene therapies, but other treatments are very real, and very close to being approved. My son is in a trial of nusinersen with Ionis Pharmaceuticals. The results of this drug are astounding.
ianai 10y ago
Here's how you price & sell this. I figure the long term cost structure of all/most gene therapies diminish rapidly with each additional cure. i.e. The first two are prohibitively expensive to develop. The next two will be less, potentially a TON less. What a big pharma like GSK does is spread their cost of R&D across all future incomes of future genetic treatments. Then develop genetic treatments for anything and everything that can be treated genetically. So you start with the rare things, like here. Then you go for the cancers and things that have many more patients. Over time you wind up with, say, cures for things like male pattern baldness. Things where there are millions of highly willing to pay individuals. In the longer term they're suddenly selling a product multiple times to nearly everyone. Suddenly they're not selling the cure for a rare condition, but selling a gene 'vehicle' - possibly at used or new car prices.
- fapjacks 10y ago
  And I will happily dump most of my income into whatever they're hawking. Nobody chooses to get old. It's forced upon us in the most awkward way. I will happily pay someone to prevent (or cure) aging in myself, and shift the time of my death to a time of my choosing.

135 points by jerryhuang100 10y ago

I wonder how this scales to other single-defect diseases? After the initial R&D, do you just swap out one sequence of genetic material for another in order to repair other diseases?

Natanael_L 10y ago
Depends on the disease. Disclaimer, I'm not a doctor or researcher! YMMV Those diseases with active bad genes controlling the behavior of cells that are replaced at a fast rate would be more likely to effectively disappear after just the treatment, such as some blood or skin diseases. Those who changes how the body grows (like say skeleton growth or other cells with slow replacement) would still leave the body in the condition it was in just before the treatment. They would effectively be chronic unless you can simultaneously fix the existing faults using for example surgery or a secondary therapy. But they wouldn't continue to deteriorate in the cases where the continued activity of the bad gene drives the deterioration. And syndromes caused by genes that only had to be active once (like in childhood) and now is dormant won't get fixed by gene therapy (but it MIGHT prevent it from being hereditary, if properly propagated in the body)
refurb 10y ago
Take a look at Bluebird Bio and their gene therapy for beta-thalassemia. Great initial response, but then the effect wore off. The other challenge is repeat dosing. Many of these gene therapies use viral vectors that the body develops an immune response to. You can't dose a 2nd time unless you change the vector (or suppress the immune system).

Apfel 10y ago

As the article mentions, the pricing of this will be extremely interesting. The outright Hep C cure (Sofosbuvir/Sovaldi) was one of the big stories in pharmacoeconomics last year, which is very interestingly priced globally (Nice paywalled article discussing this - http://thelancet.com/journals/langlo/article/PIIS2214-109X(15)00156-4/fulltext http://thelancet.com/journals/langlo/article/PIIS2214-109X(1...)

baldfat 10y ago

The future is now - 1) Self-driving cars 2) Flights to Mars in the next 10 years 3) Gene Therapy and Crisper 4) Robots are actual real world discussions Happily no flying cars (We would all die), No AI yet (In the future AI I love and respect you and welcome your presence in our world) Gattaca - The film presents a biopunk vision of a future society driven by eugenics where potential children are conceived through genetic manipulation to ensure they possess the best hereditary traits of their parents. The film centers on Vincent Freeman, played by Hawke, who was conceived outside the eugenics program and struggles to overcome genetic discrimination to realize his dream of traveling into space. https://en.wikipedia.org/wiki/Gattaca https://en.wikipedia.org/wiki/Gattaca This is just the crack in the wall. Philosophy and Ethical questions will make this one of the biggest stories for the next decade or more.

_yosefk 10y ago
No manned flight to Mars in the next 10 years, I bet. (Why anyone would want that escapes me... Then again that is why I will be wrong, if indeed I will be.)
- mintplant 10y ago
  I'm in favor of steps, big or small, toward lessening humanity's total reliance on the viability of life on a single planet.
  - duaneb 10y ago
    Sure. I have no idea where the (vanishingly unlikely) 10 year window is from, though. It would be suicide for all the passengers.
  - _yosefk 10y ago
    Humanity being its own only remotely dangerous enemy, I never understood how more planets help.
    - MawNicker 10y ago

amelius 10y ago

Question: can this type of gene therapy be reversed?

maxerickson 10y ago
The procedure in the article could not be repeated to reverse the effect. Once the altered stem cells take hold in the body it would be necessary to destroy them to reverse the effect. It could later become possible to undo the procedure using some method that was able to alter the cells in the body.

synapticfire 10y ago

Another promising gene therapy, close to being submitted to the FDA for approval, has been developed by Ohio State University, Nationwide Children's hospital, and Avexis for the treatment, and possibly cure, of Spinal Muscular Atrophy. https://avexis.com https://avexis.com If you have not heard of SMA, you should look it up. I had not heard of it until my 2 month old son was diagnosed. http://www.curesma.org/sma/about-sma/ http://www.curesma.org/sma/about-sma/

rsync 10y ago
"Another promising gene therapy, close to being submitted to the FDA for approval, has been developed by Ohio State University, Nationwide Children's hospital, and Avexis" I would be very interested to know how the economics of that work out. Is this a classic case of the costs and risks publicized (OSU) and the profits privatized (Avexis) ?
- synapticfire 10y ago
  I believe with so called "Orphan diseases" the economics of research and eventual market release rarely work out for private companies. I believe it takes a research phase funded by charities, grants, and tax breaks for companies to have any interest. As a family affected by this, whatever gets this to market. However, I am sure someone will make money.
Frozenlock 10y ago
As one of the unlucky ones with this disease, I'm very happy to see some advances made in the field. (Tho I've been hearing about promising advances for decades, without ever seeing any concrete result...) Did you find other organizations working on gene therapy for SMA?
- synapticfire 10y ago
  I know of no other gene therapies, but other treatments are very real, and very close to being approved. My son is in a trial of nusinersen with Ionis Pharmaceuticals. The results of this drug are astounding.

ianai 10y ago

Here's how you price & sell this. I figure the long term cost structure of all/most gene therapies diminish rapidly with each additional cure. i.e. The first two are prohibitively expensive to develop. The next two will be less, potentially a TON less. What a big pharma like GSK does is spread their cost of R&D across all future incomes of future genetic treatments. Then develop genetic treatments for anything and everything that can be treated genetically. So you start with the rare things, like here. Then you go for the cancers and things that have many more patients. Over time you wind up with, say, cures for things like male pattern baldness. Things where there are millions of highly willing to pay individuals. In the longer term they're suddenly selling a product multiple times to nearly everyone. Suddenly they're not selling the cure for a rare condition, but selling a gene 'vehicle' - possibly at used or new car prices.

fapjacks 10y ago
And I will happily dump most of my income into whatever they're hawking. Nobody chooses to get old. It's forced upon us in the most awkward way. I will happily pay someone to prevent (or cure) aging in myself, and shift the time of my death to a time of my choosing.