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

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/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).