Boston’s Energy-saving Success Stories: Case Studies In Profitable Strategies – When the long-awaited moment arrived, a nurse helped Adam Hess undo a tiny plastic clip on the IV tube that led to his son’s chest as he slept in a bed at Boston Children’s Hospital.

Millions of stem cells harvested from the blood of 6-year-old Conner Hess in January flowed through an IV and entered his bloodstream. They were modified in the laboratory by adding a functional gene to compensate for the defective gene. Conner’s doctors expect this groundbreaking gene therapy, which costs a staggering $3 million per patient, will prevent the fatal degenerative brain disease and save his life.

Boston’s Energy-saving Success Stories: Case Studies In Profitable Strategies

Boston's Energy-saving Success Stories: Case Studies In Profitable Strategies

“You’re going to get your stem cells back, honey,” Conner’s mother, Richelle Brooks, said from the other side of the bed, wiping away tears with a tissue as excited hospital staff crowded the room.

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Adam Hess held the hand of his son Conner Hess at Boston Children’s Hospital last month after the 6-year-old became the first patient to receive a recently approved $3 million gene therapy. Erin Clark/Globe Staff

“To make up for my annoyingness,” Adam added, using the expression the doctors suggested his parents use when talking to Conner about an extremely rare genetic condition, cerebral adrenoleukodystrophy, or CALD.

This devastating disorder strikes boys, usually between the ages of 4 and 10, causing a rapid loss of cognitive and physical abilities, including hearing, vision and movement, often months after the first symptoms appear. Most boys die within a few years.

Conner, who had been on a grueling drug regimen for eight days to make room for stem cells in his bone marrow, stirred but fell asleep as nurses cheered and clapped during a one-time, half-hour infusion on March 16.

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An upbeat boy from upstate New York who loves the online game Roblox and has no apparent symptoms, Conner is the first patient to receive the gene therapy since it was approved by the Food and Drug Administration in September.

It is marketed as Skysona and is one of six gene therapies since 2017 that have transformed the outlook for disorders once thought hopeless. It has also raised thorny new questions about how the healthcare system can afford such breathtakingly expensive drugs.

Skysona was developed by Bluebird Bio, a Somerville biotech specializing in gene therapies for rare diseases. Experts say Conner’s disorder affects only a few hundred patients in the United States. Few people had heard of it until it was featured in the 1992 film Lorenzo’s Oil.

Boston's Energy-saving Success Stories: Case Studies In Profitable Strategies

Richelle Brooks and fiance Adam Hess embrace their son Conner as he recovers at Boston Children’s Hospital on March 21. Erin Clark/Globe Staff

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In a clinical trial that followed CALD patients for two years, 91 percent of 32 children who received a single dose of Skysona survived without major functional disability. According to the researchers, 35 more children underwent the treatment during the follow-up study and the results have been maintained to this day. The first patient in the trials, a boy from Northern Ireland, received it at Boston Children’s Hospital nearly a decade ago and is still doing well.

But Skysona carries the risk of potentially serious side effects. And because it treats a disease that causes an irreversible build-up of toxic fatty acids and inflammation in the brain, the gene therapy must be done before symptoms appear. After that, neurological damage is done. This means that early detection of the faulty gene that causes the disease is crucial.

Over the past decade, 36 states — Massachusetts not among them — have mandated screening newborns for the genetic mutation with a blood test, in part at the urging of a Brooklyn woman whose 7-year-old son died of CALD in 2012. New York was the first to impose the requirement a year later, allowing Conner’s parents to learn he had the defect days after his birth in 2017.

“Finding the news was a nightmare, but looking back it was a real blessing,” said Richelle Brooks of Swain, N.Y., who works at a collection agency. (Her fiancé, Adam Hess, Conner’s father, is a stay-at-home dad who helps raise her and her three older siblings.)

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Because of those test results, Conner had to undergo regular MRIs of his brain to determine whether he might develop the most devastating form of the disease, as about a third of patients with the defective gene do. Unfortunately, the lesion that showed up on his MRI in September indicated that he almost certainly would.

Conner Hess rested in a hospital bed at Boston Children’s Hospital on Jan. 10 as stem cells are collected in his blood so they can be altered by adding a gene that works to compensate for the defective gene. Erin Clark/Globe Staff

“There’s clearly a flame that’s going to spread like wildfire,” Dr. Florian Eichler, Conner’s neurologist and a CALD expert at Massachusetts General Hospital, said of such lesions. Eichler helped conduct research led by researchers at MGH and Children’s Hospital, competing hospitals that acted as collaborators.

Boston's Energy-saving Success Stories: Case Studies In Profitable Strategies

Skysona’s arrival has delighted patients’ families and doctors, validated decades of research by Harvard-affiliated hospitals and Bluebird, and highlighted the potential of gene therapies to halt and perhaps even cure inherited diseases.

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“I hesitate to say ‘cure’ because they’re still at risk for something,” Dr. Christine Duncan, a transplant specialist at Boston Children’s Conner, said of CALD patients. But gene therapy appears to halt the unrelenting neurological decline that leads to a vegetative state or death in most patients.

Duncan helped oversee the Skysona trials and testified before an FDA advisory panel that voted 15-0 last June to recommend approval of the treatment. He said he expects Conner to lead a relatively normal life, although he will still need to take steroids to compensate for the adrenal insufficiency associated with the disease. And he could develop peripheral nerve damage as an adult, which could affect his ability to walk and even require him to use a wheelchair, as well as other problems.

For more than 30 years, doctors have known that stem cells from the blood of healthy donors can stop CALD. This made these cells, the body’s raw material, the only proven treatment before Skysona. The donated cells move to the bone marrow, multiply and drift into the brain. There, they slowly transform into protective cells of the central nervous system called microglial cells. In CALD patients, these cells appear to prevent the accumulation of fatty acids that damage the protective sheaths surrounding nerve cells due to the defective gene.

But finding a suitable donor can be difficult. Stem cells work best when they come from siblings whose genetic makeup is more likely to be compatible with the patient’s. Cells donated by someone other than a sibling often act as if they are a threat and attack the patient’s own cells, a potentially life-threatening complication known as graft-versus-host disease.

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But because CALD runs in families, siblings are also more likely to have the same genetic defect, making them unable to donate cells. Indeed, Conner’s 13-year-old brother has the same faulty gene, although it has not led to the brain form of the disease.

The scientists behind Skysona sidestepped the donor mystery. They used stem cells taken from the patients’ own blood, inserted a good gene into the cells in the lab, and infused them back into the bone marrow. The patient’s modified stem cells stopped the disease as effectively as stem cells donated by healthy, matched siblings and better than stem cells from unrelated donors.

Skysona does not come without serious risk. Three of the 67 children who received it in the studies developed blood cancers thought to be related to the gene therapy. Although the cancers were treatable, Duncan said the risk must be weighed by families considering gene therapy.

Boston's Energy-saving Success Stories: Case Studies In Profitable Strategies

Adam Hess sat in his son’s hospital room on March 16 after Conner received Skysona gene therapy. He and fiancee Richelle Brooks lived there during the boy’s weeks-long hospitalization. Erin Clark/Globe Staff

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As impressive as Skysona’s performance is, critics of the pharmaceutical industry say it also illustrates a troubling trend: drug prices are soaring into the stratosphere.

At $3 million, Skysona became the most expensive drug ever when approved by the FDA. That amount does not cover the cost of administering it or providing related treatment at the hospital, which in Conner’s case included eight grueling days of chemotherapy to make room in his bone marrow for his altered stem cells. Medicaid covers his medical expenses, his mother said, because he can’t afford employer-provided health insurance premiums.

Every time a gene therapy wins approval, it seems to break the previous record for the most expensive drug ever. Skysona’s price tag broke the record set a month earlier by another gene therapy from Bluebird called Zynteglo, which costs $2.8 million and treats a rare inherited blood disorder called beta-thalassemia. Just two months after Skysona was approved, it lost its title as the most expensive drug to Hemgenix, a $3.5 million hemophilia B gene therapy made by Prussian king CSL Behring.

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