The era of gene therapies and their exorbitant prices | Health

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Proper translation: Arabes48

In a trial supervised by hematologist Stephen Pipe from 2018 to 2021, hemophilia patients received single-dose gene therapy to treat the DNA mutation that caused their bleeding episodes, some of them serious and dangerous. Gene therapy treats the disease, unlike most drugs, which relieves symptoms, saving patients the fear and anxiety of dangerous bleeding for years to come, and some even believe they are completely cured of the disease. disease, as Stephen Pape, an academic from Michigan Worker, points out: “They don’t have to think about hemophilia anymore, the drug can be considered a complete cure.

The treatment, called Hemgenix, won US Food and Drug Administration approval on November 22 for the treatment of patients with severe hemophilia B. Become the most expensive real estate in the world.

Participants in Pape’s trial didn’t have to pay for treatment in the research study, but future patients and their insurance companies would pay a lot.

It’s not yet known if this single injection will last a lifetime, but Pape points out that some patients who took doses in previous trials more than 10 years ago are still doing well, and for gene therapy experts, the price is not surprising. reasonable and predictable,” says Nicole Pawelk, assistant professor of gene therapy at the University of California, San Francisco. “The price is very fair.”

Accepting treatment at this price is a big step for patients, as recurrent haemophilia B bleeding leads to movement problems over time, and consequent avoidance of sports and other active hobbies, as this can cause bleeding.

“It can be simple bleeding or bruising, or a real nuisance like a nosebleed,” Lynn Valentino, a hematologist and CEO of the National Hemophilia Foundation, tells us about the disease. Bleeding in the joints, knees, elbows and ankles cause severe arthritis, and they can be deadly when in the brain,” so he believes tackling this condition can actually be lifesaving. of his patients.

Hemophilia B is caused by a mutation in a gene called F9. This defect stops the production of a protein essential for blood clotting called factor IX. Patients must currently receive regular intravenous injections of factor IX to prevent bleeding. It is administered at least once a week due to the relatively short time. What protein passes into the blood.


“A patient with severe hemophilia B may need to inject the clotting factor concentrate two or three times a week for the rest of their life,” says Valentino. “It’s a huge burden.”

A 2016 analysis in the American Journal of Care found that injections cost patients an average of $127,194 per year, and for those with moderately severe hemophilia B, treatment costs could be $300,000 or more. , according to a 2021 study in the Journal of Medical Economics.

Researchers have long sought to find a unique cure for hemophilia and have successfully repaired the mutation by introducing a healthy copy of the F9 gene, to stimulate the body to make the protein again. “Instead of 100 to 150 injections per year, the patient will receive one injection, hopefully indefinitely,” Valentino says of the Hemgenix treatment. “I hesitate to say for life, but that’s what we hope for.”

Several groups have launched gene therapy trials for hemophilia, the first in 1998, but an effective therapeutic approach has been slow to materialize. CSL Behring acquired the rights to Hemgenix in 2020 from a company called uniQure which has been developing it since 2008. The treatment works by delivering an alternative F9 gene to the liver so it can make factor IX, and the patient receives the dose intravenously in the arm.

Treatment is not a permanent solution for all patients. In Pipe’s study, Hemgenix reduced the number of annual bleeding episodes by 54% compared to the period before patients received the drug, and 94% – 51 out of 54 – of patients stopped receiving factor IX. injections at the end of the day. Ultimately, they no longer need it, according to trial results submitted to the US Food and Drug Administration.

Hemgenix isn’t the only gene therapy that’s skyrocketed. Luxturna debuted in 2018 as the first such treatment approved to repair a genetic trait – a rare form of vision loss – at $425,000 per eye.retina deterioration over time.

In 2019, pharmaceutical company Novartis won US Food and Drug Administration approval for its Zolgensma gene therapy, to treat children under two with spinal muscular atrophy, one of the leading genetic causes of childhood death. . Novartis then priced the treatment at $2.1 million, making it the most expensive drug on the market at the time, but earlier this year newly approved gene therapy Zynteglo took the title. more expensive, at $2.8 million, a treatment for ADHD patients. in the blood is called beta thalassemia and they need regular blood transfusions.

All therapies work by providing the body with a normal copy of the disease-causing gene to counteract the mutated version. In many cases, gene therapies can transform the lives of patients, such as restoring sight or sparing patients from regular and grueling treatments. case of Zolgensma, the drug literally saves the lives of patients, most of whom die.Children with spinal muscular atrophy at the age of two.

The companies behind these treatments have justified their high prices by claiming that they offer enormous benefits and are more cost effective than current treatments because they are only administered once. In a company statement provided to WIRED, CSL Behring justified the high price of Hemgenix by saying, “This price will save many costs to the public healthcare system and reduce the economic burden of hemophilia.” B by reducing annual bleeding rates, reducing or eliminating prophylaxis, and generating levels of hemophilia B.” An elevated factor IX level persists for years.

The company said the price was set taking into account the “clinical, societal, economic and innovative value that this new gene therapy represents”. Earlier last month, the Institute for Clinical and Economic Review, a Boston-based nonprofit research institute that values ​​drugs and other medical services, said Hemgenix would be fairly priced at more than $2.9 million. of dollars.

But Michael Gusmano, a professor of health policy at Lehigh University and a research fellow at the Hastings Center, an independent bioethics research institute in Garrison, New York, says the price of Hemgenix and other gene therapies should not be considered a bargain. a health system at prices that are not in line with international health policies. Emphasizing that the United States, unlike other economically developed countries, does not regulate or negotiate with medical companies regarding the prices of new drugs when they come to market.


Although most patients never pay the full cost of drugs out of pocket, those who are uninsured will find it difficult to access these treatments. CSL Behring says it plans to offer discounts, and other gene therapy makers have programs in place to help patients.

In his statement to WIRED, CSL Behring said the overall impact on the healthcare system would be small, as hemophilia B is a rare disease that affects only about 6,000 people in the United States, and only adults. are eligible to receive Hemgenix, making the pool of potential patients even smaller.

Polk points out that gene therapies are expensive because they are complex and expensive to manufacture: “It’s not a small-molecule drug like Tylenol, it’s a very different drug than the regular drugs you take in pill form. . These types of drugs can often be manufactured by robots, millions of doses can often be manufactured per day, and the process can be transferred to third parties once you have the chemical prescription.

Gene therapies work by inactivating viruses and using them as carriers of therapeutic genes into patients’ cells. These viruses are grown in huge stainless steel vats, then purified and then tested to ensure they are safe and work properly. It usually takes 10 months or more to manufacture enough doses for patients in a clinical trial.

Although these therapies have been in development for several decades, gene therapy is still new to the market. Polk sees the cost of manufacturing and therefore the price of gene therapy dropping as companies gain more experience manufacturing them at scale. “We will definitely improve in this area,” she says, but it could take five to ten years.

And with hundreds of gene therapies in the pipeline and some likely to be approved in the coming years, that means millions more dollars worth of therapies will hit the market. Companies are banking on the long-term effectiveness of these treatments, but skepticism remains about how long their effects will last. Clinical trials have only followed patients for years, not decades.

Michael Gusmano questions the consequences of pricing if treatments don’t last as expected and argues that even if they do, million dollar prizes are not sustainable.



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