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ATLANTA — A new gene therapy for the fatal genetic disorder metachromatic leukodystrophy will carry a wholesale price of $4.25 million, its manufacturer announced Wednesday, making it the world's most expensive medicine.
Lenmeldy is the first therapy for the rare and devastating disease, which typically kills affected children before they turn 7. About 40 children are born with metachromatic leukodystrophy in the U.S. each year.
Manufacturers of gene therapies say the big prices reflect big benefits — the chance to be free of a disabling or even fatal disease — and they point out they need to be able to recoup the steep costs of development, testing and manufacturing their products.
Dr. Bobby Gaspar, the co-founder and CEO of Orchard Therapeutics, the company that makes Lenmeldy, said the treatment is "paradigm-shifting medicine and has the potential to stop or slow the progression of this devastating childhood disease with a single treatment."
"We are committed to enabling broad, expedient and sustainable access to this important therapy for eligible patients with early-onset MLD in the U.S.," Gaspar said in a statement.
Lenmeldy takes stem cells from someone with metachromatic leukodystrophy and uses a harmless virus to insert working copies of a faulty gene. The repaired cells are then infused back to the patient, where they begin to produce an enzyme that's lacking in children who have the disease.
"We can't say at the moment that this will last a lifetime, but what we can say is that there is a longterm durable effect," Gaspar said.
Price of hope
Metachromatic leukodystrophy is an inherited disorder, and children born with it lack an enzyme needed to break down fatty substances called sulfatides. The build-up of these fatty materials eventually becomes toxic to nerves, leading to the progressive loss of movement and thinking.
Babies with the disease develop normally for a time and but then typically begin to lose the ability to walk and talk around age 2. The disease advances rapidly, causing children to deteriorate into a vegetative state.
"We are over the moon regarding what this means for other families," said Kendra Riley, 41, of Phoenix, who has two children with MLD.
For their family, the FDA's approval this week was bittersweet.
Riley's 5-year-old daughter, Olivia, is in hospice after being diagnosed with the disease as a toddler.
Riley says the first clue that something was wrong came when Olivia was around the age of 2. She began to have trouble walking, and her head started to regularly tilt to the side when she would watch TV.
"We thought we just needed some physical therapy," Riley said.
"Then the irises of her eyes started vibrating. That's when we knew something else was going on."
By the time doctors diagnosed Olivia with the disease, it was too late for the gene therapy to help. But knowing that the condition is inherited, they were able to get their younger daughter, Keira, tested and diagnosed.
Keira, now 4, was the 32nd child in the world to get the therapy, which is most effective before children show symptoms.
The treatment wasn't yet available in the United States, so the family crowdsourced donations to temporarily relocate to Italy in 2020 to get the therapy. It cost them about $500,000 to live abroad and pay for Keira's medical care, even though the company provided the gene therapy for free.
"Having this FDA-approved therapy means that if a child does get diagnosed before symptom onset, they have a chance at normal life," Riley said.
"She is doing amazing. Zero symptoms," she said of Keira. "You would never know."
'Exciting' drug development
The Boston nonprofit Institute for Clinical and Economic Review which evaluates the cost-effectiveness of new drugs, published a final report on Lenmeldy last fall and estimated that the cost of the therapy would match its expected benefits to patients if it was priced between $2.3 million and $3.9 million.
Experts agreed that even such a hefty price tag would be worth its results. Children with the disease who aren't treated usually die within five years of their diagnosis; the oldest patient to have the therapy has now been followed for more than 12 years and appears to be developing normally.
"It's taking a child who would have had a miserable short life and likely giving them a normal life. And that's worth a lot of money," said Dr. David Rind, the chief medical officer for the institute. "This is one of the more exciting drugs that we've looked at."
Still, the Lenmeldy's price came in hundreds of thousands of dollars higher than even Rind expected.
"I think when you get into numbers this big that people don't necessarily pay attention when it gets a little bigger, but I do think this price is too high," Rind said.
Even with a top tier price, the treatment will not be a blockbuster, Rind noted, because the disease is so rare. Some gene therapies approved for rare diseases have disappeared because the companies that made them couldn't make enough money to stay in business.
New possibilities for patients
Lenmeldy has been available in Europe since 2020, but it took four more years to bring it to the U.S.
Riley said she wishes screening had been available for Olivia. The 5-year-old is stable for now, but Riley said she lives in fear that Keira could bring germs home.
"The common cold could kill her," Riley said. "So every time her sister has come home with a cold from school, that could be potentially something that takes her out."
Olivia can't walk or talk, and she's fed through a tube. Riley says she requires round-the-clock care. Physical and occupational therapists come to the house each week "to keep her mind moving. She does understand what's going on."
She said that as they have watched Olivia slip away, they've come to understand that her life has had a profound purpose. But they say they hope that the approval of Lenmeldy means that no other families with this disease will have to lose one child to save another.
"We've always called Livvy 'Keira's guardian angel on Earth,'" Riley said. "She's here for a reason."
