FDA approves first gene therapy treatment of Duchenne muscular dystrophy

https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-treatment-certain-patients-duchenne-muscular-dystrophy

by WaitWaitWha • 3 years ago

239 73 3 years ago

fda.gov

Despegar• 3 years ago

It's unfortunate that biotech funding also depends on the same low rate environment that tech does, because while the tech industry has mostly been spinning its wheels on nonsense after the iPhone (like crypto), there's real innovation in biotech.

mattigames2• 3 years ago

The us military wastes 2.01 trillion dollars a year, any alignment between ending human suffering and capitalism is merely incidental.

JumpCrisscross3• 3 years ago

us military wastes 2.01 trillion dollars a year

Do you think gene therapies are developed while the scientists are dealing with food insecurity and competing warlords?

BenFranklin1006• 3 years ago

The entire US military budget is approximately $800B. The first clause of your sentence is factually incorrect; the second is a non sequitur.

NeuroCoder• 3 years ago

The first Neuro lab I worked in was funded by the department of defense. Focus was the effects of traumatic brain injury and mechanisms that cause it. It wasnt 2.1 trillion in funding so I can't account for a lot of that I guess

majormajor2• 3 years ago

US government military spending is all driven by central planning...

JumpCrisscross3• 3 years ago

unfortunate that biotech funding also depends on the same low rate environment that tech does

Maybe this is me peak Chesterton’s fencing it, but there appears to be merit to the peristalsis of exuberant optimism followed by pruning discipline. Absent the first, we wouldn’t have the science. Absent the second, the pressure to push a product diminishes.

pfisch• 3 years ago

Yeah ChatGPT and Stable Diffusion are just a bunch of nonsense...

mjfl• 3 years ago

overly defensive. kind of proves the point.

elromulous• 3 years ago

Partially disagree. a lot of bio is jam packed with people pre maturely hyping mouse model success. In that way (the hype machine), it's not that different from tech.

BenFranklin1006• 3 years ago

As someone who works in the life sciences, I will come to the defense of my colleagues working in tech. A fair amount of life science progress is driven by innovations borne in tech. For instance, deep learning, and specifically GANS, is helping transform image analysis. Also the tech industry is making it possible to process the vast amounts of data produced in the life sciences. Hats off to you guys, great work, seriously.

I will say that some aspects of tech (I.e social media driven partisanship, surveillance capitalism, click-back attention stealing advertisement and ‘engagement’) is a (large) net negative, but hopefully over time we will better learn how to manage these negatives.

Cthulhu_3• 3 years ago

I mean, older tech now, but CAT and CT scans wouldn't have been possible without the huge amounts of processing power and analysis algorithms that the tech industry came up with. One high resolution CT scan generates 350GB of raw data: https://xraylab.esci.umn.edu/frequently-asked-questions#Data

Jorge1o1• 3 years ago

Interestingly, after months of chopping along at the whims of the FDA, the stock actually sold off a little today after the news came out at 2pm.[1]

A good example of what it means for news to to be "already priced in," and how in fact, too many traders in a name can overcrowd it and destroy the alpha. It's like game theory.

[1] https://yhoo.it/3pbC6aB

ninja3925• 3 years ago

I somewhat understand your point but the facts imperfectly support it. If information was already priced in, say 90% chance of success, a positive outcome would still provide a lift from the remaining 10%.

The decrease sounds like something else is going on.

mhluongo• 3 years ago

"Buy the rumor, sell the news"

throwaway20374• 3 years ago

2% is nothing for a single name stock. Who cares. It is just noise.

Looking at the close price history here: https://www.google.com/search?q=SRPT+price&rlz=1C1GCEB_enJP1...

Overall, the last one year has been pretty flat for this stock.

m3kw9• 3 years ago

It’s more like ppl sell because they know bull with this environment will keep buying till news hits

fullburley6• 3 years ago

The approved label reduced access to 4 and 5 year olds, shrinking the market opportunity in the short term.

Cthulhu_3• 3 years ago

Stock prices have nothing to do with the successes or failures of a company, and everything with hype, marketing, and mainstream appeal. Same with cryptocurrencies and the likes. It's not a rational market, but everyone talks about it like it is.

hooloovoo_zoo• 3 years ago

Recent Nature article on the treatment https://www.nature.com/articles/d41586-023-01799-z

BenFranklin1006• 3 years ago

This is exciting, although the cost of treatment is very high. Contributing factors to the high cost is that gene therapy is a cutting edge approach with a high failure rate and thus high development costs, and DMD is a rare disease with a small patient population. In time, as the development of gene therapy treatments become more refined, costs will go down.

Successes in gene therapy treatments are exciting, as the success rate of traditional small molecule therapies have stagnated over the last 10-20 years. Moreover, small molecule therapies may never prove effective in treating many genetic diseases.

tptacek• 3 years ago

The disease itself is incredibly expensive. The price of breakthrough treatments will come down faster than the costs of having the disease.

BenFranklin1006• 3 years ago

I don’t know the specifics of the costs of caring for one with DMD, but I strongly agree that in general, new disease therapies are the only sure way to drive down medical costs in the medium and long term. This represents a victory, no doubt.

ramraj07• 3 years ago

I remember over lunch with a person researching custom DNA vaccines and he mentioned to get personalized injectable grade DNA made per person costs a million dollars. My mind was blown.

throwaway20374• 3 years ago

I agree: It is mind-blowing -- the cost, but the science is also mind-blowing. This stuff really is science fiction. When I was a kid, I could never imagine it was possible. Think how primitive computers were 30 years ago. All of these bio-breakthroughs are impossible without staggering amounts of compute and improved laboratory hardware.

My thinking: How long for each divide-by-ten step? 1M USD today, 100K USD next, 10K USD later. At 10K USD, for these life threatening diseases, it is a drop in the bucket. Any insurance company would pay for it, because it would easily save many times more in avoided treatments for the illness.

Think about the revolution that 3D printers brought. I could see something similar for custom DNA vaccines. They should be targeting wealthy people who want cosmetic effects, like hair regrowth, less wrinkles, hormones like a 30 year old, etc. They can pay, and it will help to mature the industry and production pipeline.

LifeIsBio• 3 years ago

It is exciting! As others in the thread are saying, the cost of individuals with severe rare diseases are also very high.

Here’s a recent attempt at quantifying the costs across all rare disease:

https://chiesirarediseases.com/assets/pdf/chiesiglobalraredi...

ugh123• 3 years ago

This treatment targets the dystrophin protein which "helps keep the body’s muscle cells intact".

Turns out issues with dystrophin also affect telomere length (at least as studied in the heart of DMD patients [0]).

Is this a possible route for natural aging-related research?

From [1], "Overall, these data suggest that age-dependent alterations in dystrophin leave the muscle membrane and NMJ more susceptible to contraction-induced damage even before changes in muscle mass are obvious." (tests on rodents)

[0] https://med.stanford.edu/cvi/mission/news_center/articles_an...

[1] https://academic.oup.com/biomedgerontology/article/72/5/640/...

Out_of_Characte• 3 years ago

So far, most age related medicine only come in two forms, those that reduce cell division which improves longevity, and those that increase cell division which improves youthfullness and cancer. Telomeres seem to be a natural counter to reduce aging cells from becoming cancer.

inciampati2• 3 years ago

It's not so simple. Long and short telomeres can lead to cancer.

Short telomeres or their loss can lead to genome rearrangements and other chromosomal problems. This can set the stage for oncogenesis.

Long telomeres can allow cells to continue to divide many times. This also can lead to an accumulation of oncogenic drivers. https://www.nejm.org/doi/full/10.1056/NEJMoa2300503

As with many things in biology, maintaining balance is important. Many factors are at play. The message that longer telomeres are better is beguiling, but nature would not make such a simple mistake.

tehjoker• 3 years ago

1. They're using a modified protein 1/4th the size of the regular muscle protein. 2. They only showed they can hit a surrogate endpoint, not a clinical benefit yet.

It'll be interesting to see what happens. I hope these kids have better lives as a result of this treatment.

fullburley6• 3 years ago

As a first of kind treatment, they really didn't pick the right endpoints. Seeing videos of kids able to walk up stairs with confidence, after treatment, when they couldn't before, is rather compelling as evidence. Evidence will also be hard to come by in normal quantities given the disease rarity.

fullburley6• 3 years ago

For a marketing video that contains both untreated, and before and after DMD with this med, the outcomes are remarkable. https://youtube.com/watch?v=IolcG-a2yeY&feature=share8

Pxtl• 3 years ago

This is reassuring. My wife's family has a hyper-rare form of mostly-harmless DMD -- like, every genetic test says my father in law has DMD but he's a healthy octogenarian when most sufferers never saw 30. But it means I always worry about mys son and nephews that may have the gene.

fullburley6• 3 years ago

Serum CK testing would be a reasonable cost available surrogate test, if in normal range than muscle isn't being destroyed as one would see in traditional DMD cases. If high, run the genetic test, free in the US and Canada via Decode Duchenne.

uptownfunk• 3 years ago

Is this the disease they had the telethon about when we were kids? The Jerry Lewis one, maybe I’m showing my age

fullburley6• 3 years ago

Those were for the Muscular Dystophy Association, who cover DMD along with many other neuromuscular diseases.

gtsnexp• 3 years ago

Gene therapies continue to be delivered using adeno-associated viruses (AAV), which means the essential issue of overexpression hasn't been adequately addressed. This impending clinical trial could very likely result in robust immune responses, potentially necessitating patients to take immunosuppressive drugs for the rest of their lives.

HoyaSaxa• 3 years ago

I appreciate that most people in this thread are not intimately familiar with this disease, but the casual attitude to it is woefully missing it’s savageness.

It unfortunately took my nephew’s good friends life at 13 years of age. You would have never known he had a disease until well past the age of 5. His family provided the most cutting age treatments available including those not yet FDA approved. Yet he deteriorated rapidly between the ages of 10 and 13.

For those that don’t know, it is almost impossible to survive past 25 with DMD

I cannot speak to the efficacy of this particular drug, but I will optimistically celebrate its approval in hopes that no other family has to watch their child suffer.

sdflhasjd2• 3 years ago

It's definitely possible to survive past 25, that's just the average life expectancy.

light_hue_13• 3 years ago

That doesn't sum it up at all.

Without ventilation almost everyone dies by 25 which was the case until the 70s. The poster is right there's a marked decline by your early 20s. And depending on when and where their story happened it could be very accurate: it was almost impossible to make it past 25.

Almost everyone needs to be on ventilation to make it further and then the median survival is just shy of 30. That significantly impacts your quality of life unfortunately.

ribs• 3 years ago

My friend’s boy died just after entering college with it. Ugh.

aetherspawn• 3 years ago

Could someone clarify, does gene therapy cause a permanent gene mutation that can be passed on to offspring?

inciampati2• 3 years ago

It could. This is administered via an AAV rh74 vector, an adenovirus isolated from Rhesus monkeys. There is nothing stopping it from getting into the germ line. Notably, this effect may be primarily seen in males, as gametogenesis (cell divisions leading to sperm/eggs) is ongoing throughout life, in contrast to females where gametogenesis has completed at birth.

adultSwim• 3 years ago

Remember Jesse Gelsinger

FDA approves first gene therapy treatment of Duchenne muscular dystrophy

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