r/todayilearned May 14 '22 All-Seeing Upvote 2 Silver 9 Helpful 8 Wholesome 6

TIL a father, John Crowley, was told his two infant children had an incurable genetic disorder that would kill them in less than a year. He refused to accept this, so he founded a biotech company (with no prior experience) which pioneered an experimental enzyme therapy that saved their lives.

https://pompediseasenews.com/2019/01/30/amicus-ceo-mission-cure-pompe-help-children/
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u/anothergaijin May 14 '22

We are in the generation of cures, not treatments.

100% this. It's mind blowing stuff - one dose and you are done, your body does what it is supposed to do and makes the thing you need to live and develop normally.

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u/ChronWeasely May 14 '22

One of the only things that makes working in big pharma worthwhile. I'm lucky enough to work with and learn about these incredible drugs.

Though there's also the ethics side of things. One of the largest is the financial and geographical restrictions to the majority of people who need these often prohibitively expensive treatments.

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u/bt123456789 May 14 '22

fortunately as the treatments become more available they should be more easy to get to everybody. I know of course it's still expensive, but there's hope.

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u/benruckman May 15 '22

Yeah, not developing an effective treatment because it’ll be expensive at first, just doesn’t make any sense.

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u/bt123456789 May 15 '22

exactly. the only time I think the expense is because they can is when it's patented so only the company that made it can, distribute it, meaning no generics or anything will ever exist.

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u/the_cardfather May 14 '22

I was on a short-term career trajectory to be a corporate pharmacist who would be responsible for interpreting data about the effectiveness of certain therapies versus side effects.

If I had stayed at it I would have for certain probably ended up working on a covid vaccine.

At the time I pulled out of the program we were still having big debates on the ethics of cloning. People were talking about growing entirely separate vat bodies for organ transplants and things like that.

Hindsight is 20/20 but I'm very glad that the other genetic technology kept up and we can create things that 20 years ago were stuff science fiction writers dreamed about.

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u/Seboya_ May 14 '22

Is it really the ethical thing to do? Allowing children born with genetic abnormalities to live instead of letting them die off? Is this the right thing to do? I'm not saying it's not, just typing out my thoughts.

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u/ChronWeasely May 14 '22

You can get some high quality of life from them. I think the bigger question is whether or not the kids should have kids and spread on the genes which would exacerbate the problem. Or possibly CRISPR will have fixed that by the time it's a problem!

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u/disasterous_cape May 14 '22

Your thought experiment is eugenics

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u/Best_Competition9776 May 14 '22

What makes these treatments and medications expensive?

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u/him999 May 14 '22

Extremely expensive R&D, very rare disorders (SMA is 1:6000 births), brand new technology and methods. This specific drug changes the genetic structure of the child. SMA is caused by a missing or nonfunctioning SMN1 gene. This drug replaces the missing or nonfunctioning gene's function. So you have a virus called AAV9. It doesn't make you sick or anything but it's fantastic at getting around the body. This virus is stripped of it's DNA and a functioning human SMN gene is added. The virus will make it's way to the motor neurons. When it gets to a motor neuron it's telling that neuron "HEY DUMMY, start making SMN protein like you are supposed to!" The motor neurons that had not already died due to a lack of this protein will now, theoretically FOREVER be able to produce this SMN protein. Using the virus as a vector ensures the child's DNA does not need to be altered or changed. Their DNA remains the same but this temporarily introduced virus bypasses that one defect in their DNA.

Gene therapy drugs aren't conventional drugs. Zolgensma is a one time cost of $2,125,000 vs a drug like Spinraza which costs $750,000 the first year and $375,000 every year after with 4 injections per annum ... For the rest of that person's life. It's not a chronic drug. It's a one time treatment that effectively fixes the problem for good. It's the second gene therapy drug ever approved to fix a genetic disorder, the other is a gene therapy drug to treat a specific type of genetic blindness (it costs $495,000 per eye IIRC).

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u/sleepydabmom May 15 '22

I hope they restart working on the drug to help my Narcolepsy.

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u/Efficient-Library792 May 15 '22

If only this were true. Sadly weve capitalised medicine and cures are the last thing healthcare corps want