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This family raised millions to receive experimental gene therapy for their children

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These desperate efforts challenge parents to overcome nearly impossible obstacles. You have to become experts in drug development, raise millions, and tirelessly persuade scientists. Few people can do it.

“There are many people who know how to do gene therapy, but the knowledge is fragmented and so much can go wrong,” says Sanath Kumar Ramesh, a software developer whose son has another rare disease. Ramesh founded an organization, Open Treatments, that develops families of software that can be used to organize gene therapy research, including hiring scientists to create animal models of a disease.

“I think in the future the distinction between scientists and parents will become blurred,” he says.

For parents whose children have already been enrolled in the Dayton Study, gene therapy may be their last chance. One of them is Meagan Rockwell, a nail technician in Cedar Rapids, Iowa whose daughter Tobin Grace, now three and a half, was diagnosed with Canavan in 2018.

“You apologized, there is nothing we can do – no treatment, no cure – you will be lucky when she sees her fifth birthday. It was a huge blow to know that your only child has a life-limiting brain disease, ”says Rockwell.

Rockwell says she found out about Leone’s gene therapy online and eventually raised more than $ 250,000. “At the time, Tobin was the youngest person in the US with Canavan, and I think that has a huge impact on their adoption,” she says, adding that Leone is telling the parents that money gets them to the top, this but doesn’t guarantee treatment.

Bateman-House, the bioethicist, says another risk is whether parents can truly “dispassionately” assess the benefits of an experimental process, especially when they have put a fortune into the effort. “It’s not just that your child is in a dangerous condition. It is so that their blood, sweat and tears fund this intervention, ”she says. “It could be incredibly difficult for parents to change their minds and say, ‘We’re not going to do this.'”

Hope versus risk

The Dayton study currently has enough genetic drugs to treat just nine or ten children. It was made in Spain, but only after the researchers and families got over what they termed the ordeal of red tape, delays and obstacles, some from government regulators who decide what genetic treatments can be tried and whether trials are properly planned.

Once, in 2019, the Landsmans took their sons to the U.S. Food and Drug Administration for a meeting that they landed after dozens of phone calls to lawmakers. “Before that, we were a case number in their big pile of papers,” says Jennie Landsman, the boys’ mother. “You had very technical objections. In the meeting we stopped Benny and Josh and said, “We hope that this technical problem won’t stop treatment.”

Benny Landsman and his younger brother Josh both suffer from Canavan disease, a deadly hereditary disease. In April, Benny underwent gene therapy to add a corrected gene to his brain cells.

Courtesy JENNIE LANDSMAN

The Dayton Trial won the green light in December and started barely in time for Benny, who will reach the age limit of five in June. “Benny is the pilot. Benny is the “God, we hope this works” kid, “says Rockwell, who has yet to have an appointment for her daughter’s trial.

What is the chance that the therapy will work? Gene replacement techniques have achieved remarkable success, healing children without immune systems and preventing brain diseases. As of 2017, a small number of gene therapies have also been approved for sale in the U.S. at prices up to $ 2.1 million per child.

Record prices have piqued the interest of specialist biotech companies that are now seeing business in super-rare diseases as well. One named Aspa Therapeutics is planning to start another gene therapy study with Canavan. The CEO, Eric David, estimates 1,000 children in the US and Europe are living with the disease. “That’s enough for us,” he says.

There is no certainty that gene therapy will be successful in Canavan. Even if the corrected gene prevents the disease from progressing, the children’s brains may already be irreversibly damaged.

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Steven Gregory