Dr. Lowe, from In the Pipeline, writes about an apparent cure for sickle-cell disease and the challenges of expanding expensive cures to developing countries:
News came recently of an apparent cure, via gene therapy, of sickle-cell disease in a young patient (whose condition was refractory to hydroxyurea and the other standards of care). Blood-cell diseases are naturally one of the main proving grounds for things like this, since their stem cell populations are in easily localizable tissues and the techniques for doing a hard reset/retransplantation on them are (in some cases) well worked out.
This is an important result, but all such approaches face a possible disconnect as they move forward. As it stands, such gene therapy is a rather expensive and labor-intensive process. Patients are carefully identified and handled one at a time, and there are a limited number of medical centers in the entire world that can operate at this level. The problem is, none of them are particularly close to the great majority of people who actually have sickle cell disease.
[...] Is there any hope that gene therapy and cell replacement could get to the point that you could carry it out at a useful rate in some of the places where it would be needed the most? That's going to to hard, but this article at Technology Review by Antonio Regalado shows some progress:
In October, (Jennifer) Adair demonstrated a new technology she thinks could democratize access to gene therapy. Tweaking a cell-processing device sold by German instrument maker Miltenyi, she mostly automated the process of preparing blood cells with a gene therapy for HIV that her center is also testing. Cells dripped in one end came out the other 30 hours later with little oversight needed. She even added wheels. Adair calls the mobile lab "gene therapy in a box."
[...] The many companies that are working on such therapies seem to be paying attention to this sort of work, because it's not only a possible path to getting clinical trials run (and eventually patients treated) in the regions where most such patients are to be found. Companies are going to be selling such things first to people in the wealthier developed countries, but that's only the beginning of the story (as it has been with antiretroviral drugs).
http://blogs.sciencemag.org/pipeline/archives/2017/03/08/gene-therapy-needs-machines
https://www.technologyreview.com/s/603762/this-lab-in-a-box-could-make-gene-therapy-affordable/
http://www.nejm.org/doi/full/10.1056/NEJMoa1609677
https://en.wikipedia.org/wiki/Sickle-cell_disease
https://en.wikipedia.org/wiki/Gene_therapy
Related Stories
The U.S. Food and Drug Administration recently approved a gene therapy for the first time, to treat a form of leukemia. Now an FDA panel has endorsed a gene therapy for an inherited form of blindness. The FDA usually follows the recommendations of its advisory committees:
Gene therapy, which has had a roller-coaster history of high hopes and devastating disappointments, took an important step forward Thursday. A Food and Drug Administration advisory committee endorsed the first gene therapy for an inherited disorder — a rare condition that causes a progressive form of blindness that usually starts in childhood. The recommendation came in a unanimous 16-0 vote after a daylong hearing that included emotional testimonials by doctors, parents of children blinded by the disease and from children and young adults helped by the treatment.
"Before surgery, my vision was dark. It was like sunglasses over my eyes while looking through a little tunnel," 18-year-old Misty Lovelace of Kentucky, told the committee. "I can honestly say my biggest dream came true when I got my sight. I would never give it up for anything. It was truly a miracle." Several young people described being able to ride bicycles, play baseball, see their parents' faces, read, write and venture out of their homes alone at night for the first time. "I've been able to see things that I've never seen before, like stars, fireworks, and even the moon," Christian Guardino, 17, of Long Island, N.Y., told the committee. "I will forever be grateful for receiving gene therapy."
The FDA isn't obligated to follow the recommendations of its advisory committees, but the agency usually does. If the treatment is approved, one concern is cost. Some analysts have speculated it could cost hundreds of thousands of dollars to treat each eye, meaning the cost for each patient could approach $1 million. Spark Therapeutics of Philadelphia, which developed the treatment, hasn't said how much the company would charge. But the company has said it would help patients get access to the treatment.
Despite the likely steep price tag, the panel's endorsement was welcomed by scientists working in the field. "It's one of the most exciting things for our field in recent memory," says Paul Yang, an assistant professor of ophthalmology at the Oregon Health and Science University who wasn't involved in developing or testing the treatment. "This would be the first approved treatment of any sort for this condition and the first approved gene therapy treatment for the eye, in general," Yang says. "So, on multiple fronts, it's a first and ushers in a new era of gene therapy."
Also at MIT.
Previously: Gene Therapy Cure for Sickle-Cell Disease
Gene Therapy to Kill Cancer Moves a Step Closer to Market
In a milestone year, gene therapy is finding a place in medicine
After decades of hope and high promise, this was the year scientists really showed they could doctor DNA to successfully treat diseases. Gene therapies to treat cancer and even pull off the biblical-sounding feat of helping the blind to see were approved by U.S. regulators, establishing gene manipulation as a new mode of medicine.
Almost 20 years ago, a teen's death in a gene experiment put a chill on what had been a field full of outsized expectations. Now, a series of jaw-dropping successes have renewed hopes that some one-time fixes of DNA, the chemical code that governs life, might turn out to be cures. "I am totally willing to use the 'C' word," said the National Institutes of Health's director, Dr. Francis Collins.
[...] The advent of gene editing — a more precise and long-lasting way to do gene therapy — may expand the number and types of diseases that can be treated. In November, California scientists tried editing a gene inside someone's body for the first time using a tool called zinc finger nucleases for a man with a metabolic disease. It's like a cut-and-paste operation to place a new gene in a specific spot. Tests of another editing tool called CRISPR to genetically alter human cells in the lab may start next year. "There are a few times in our lives when science astonishes us. This is one of those times," Dr. Matthew Porteus, a Stanford University gene editing expert, told a Senate panel discussing this technology last month.
Previously: Gene Therapy Cure for Sickle-Cell Disease
Gene Therapy to Kill Cancer Moves a Step Closer to Market
U.S. Human Embryo Editing Study Published
FDA Approves a Gene Therapy for the First Time
Gene Editing Without CRISPR -- Private Equity Raises $127 Million
FDA Committee Endorses Gene Therapy for a Form of Childhood Blindness
FDA Approves Gene Therapy for Non-Hodgkin's Lymphoma
Gene Therapy and Skin Grafting for Junctional Epidermolysis Bullosa
Gene Therapy for Spinal Muscular Atrophy Type 1
Biohackers Disregard FDA Warning on DIY Gene Therapy
CRISPR Used to Epigenetically Treat Diseases in Mice
Gene Therapy Showing Promise for Hemophilia B
Gene Therapy for Retinal Dystrophy Approved by the FDA
CRISPR Treatment for Some Inherited Forms of Lou Gehrig's Disease Tested in Mice
(Score: 3, Insightful) by Rivenaleem on Thursday March 09 2017, @01:44PM (8 children)
It should come as no surprise that this gene therapy is expensive. The amount of money (all the way back to the researcher's college fees) that goes into any new discovery is phenomenal. Just think what it would take to have this developed in "places that need it the most". It has cost so much money and resources (yes, a lot of them stolen from the kind of places that have sickle cell) to educate and provide the infrastructure to allow for research like this.
There are 2 main paths to solving this. 1) You somehow make the research and production of these medicines cheap enough for developing countries to afford, or 2) you somehow resolve all the political and economical issues of these developing countries so that they can cough up the money to pay for it.
One might argue that we owe it to them, or that we should do some wand waving to make money go away and leap forward to post scarcity Star Trek times where we are no longer motivated by money.
However, the realities are there. It costs huge amounts of money to create these cures, and for now that's just a pill we have to swallow.
(Score: 0) by Anonymous Coward on Thursday March 09 2017, @02:35PM (1 child)
1) You somehow make the research and production of these medicines cheap enough for developing countries to afford
Neither the research nor the production of virus needs to be done on-site. The more expensive problem is giving the therapy to the patient - adequate healthcare facilities, bone marrow extraction, blood transfusions, and follow-up care.
(Score: 2) by Rivenaleem on Thursday March 09 2017, @02:48PM
That's part of the infrastructure problem. The countries just don't have the capability to support cutting edge treatment.
(Score: 2) by nobu_the_bard on Thursday March 09 2017, @03:10PM (4 children)
We'll get there eventually. It may take 5 years or 50 or 500, but eventually we'll get there, and everyone will have it.
(Score: 2) by Rivenaleem on Thursday March 09 2017, @04:49PM (3 children)
I wonder whether Aspirin was expensive when it first came to market? I do know that it was (adjusted for inflation) $16.39 a bottle (24 tablets) back in 1932, over 40 years after it was released (disclaimer: this price might be influenced by the great depression). So many things influence the price of something, and it takes a very long time before the price is solely influenced by "how much it costs to make and administer" and not "how do we recoup the cost of inventing it and the cost of the things we failed to invent".
(Score: 0) by Anonymous Coward on Thursday March 09 2017, @08:10PM (2 children)
I think the price, particularly in pharmacological developments, never tends to come down to 'price to make and administer'. It's just an endless game of maximizing the sales x price curve with complete disregard for any and everything else. Aspirin is an amusing example. For those that don't know, the active ingredient in aspirin literally grows on trees, common ones - willow. Cultures for centuries have chewed on the bark, brewed tea from the leaves/bark, etc to create what is for all intents and purposes - aspirin. Buying a batch of off brand aspirin today is still going to be nicely marked up at $0.01 a pill.
Medicine and capitalism just don't mix well. Competition doesn't work because the expensive to develop, near free to produce nature of medicine means some sort of government granted monopoly (eg - patents) is generally required. And when somebody is sick their price elasticity is basically 0. For potentially terminal illnesses set the price at "everything you have and then some" and people would still buy the products since the alternative is generally seen as less pleasant.
Though maybe the bigger question is why there is no Elon Musk of medicine or most industries in general - somebody driven by motives beyond just the accumulation of wealth.
(Score: 2) by Grishnakh on Thursday March 09 2017, @08:49PM
For those that don't know, the active ingredient in aspirin literally grows on trees, common ones - willow. Cultures for centuries have chewed on the bark, brewed tea from the leaves/bark, etc to create what is for all intents and purposes - aspirin.
Not exactly. Willow bark has salicylic acid, and goes back to ancient Sumer and Egypt (more than just "centuries"). Aspirin is a derivative of this, acetylsalicylic acid, and is supposed to be less irritating.
https://en.wikipedia.org/wiki/Aspirin#History [wikipedia.org]
(Score: 0) by Anonymous Coward on Thursday March 09 2017, @09:13PM
somebody driven by motives beyond just the accumulation of wealth
There are plenty but human health is a incredibly complex. It is difficult to develop prototypes, hard to isolate variables to experimentally test, difficult to optimize, basically impossible to extrapolate results to other populations (or even individuals), carries a high risk of harm for volunteers, requires access to healthcare facilities and expertise, ... I could go on for a while and get more specific but I'm sure you get the point.
(Score: 2) by Grishnakh on Thursday March 09 2017, @08:40PM
It costs huge amounts of money to create these cures, and for now that's just a pill we have to swallow.
There's going to be much huger amounts of money in offering these cures to the general public once they're more mainstream and the costs are brought down and the technology improved. It's worth the investment to do these cures for small groups of people for free. It's not just sickle-cell disease either; this technology has much larger implications for all sorts of genetic illnesses.