Gene therapy offers hope for people with ultra-rare genetic diseases

These desperate efforts require parents to overcome almost impossible obstacles. They must become experts in drug development, raise millions and relentlessly cajole scientists. Few people can do it.

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

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

For parents whose children have already been accepted into the Dayton trial, 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 years old, was diagnosed with Canavan in 2018.

“They said sorry, there is nothing we can do – no cure, no cure – you’ll be lucky if she sees her fifth birthday. It was a 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 effort online and ultimately raised over $ 250,000. “At the time, Tobin was the youngest person in the United States with Canavan, and I think that played a big role in his acceptance,” she says, adding that Leone tells parents that the money puts them. on the front line but does not. warranty processing.

Bateman-House, the bioethicist, says another risk is whether parents can truly judge the benefits of an experimental procedure in an “unbiased” manner, especially if they have invested a fortune in the effort. “It’s not just that their child is facing a dangerous condition; it’s that their blood, their sweat and their tears are what funds this intervention, ”she said. “It could be extremely difficult for a parent to change their mind and say, ‘We’re not going to do this.’

Hope versus risk

The Dayton study currently has enough genetic drugs to treat only nine or 10 children. It was made in Spain, but only after researchers and families overcame what they call a test of paperwork, delays and hurdles, some launched by government regulators who decide which genetic treatments can be tried and whether the tests are properly planned.

At one point in 2019, the Landsmans took their sons to the United States Food and Drug Administration for a meeting they landed after dozens of appeals to lawmakers. “We used to be a case number in their big stack of paper,” says Jennie Landsman, the mother of the boys. “They had very technical objections. At the meeting, we held Benny and Josh, and we said, “We hope this technical problem is not going to stop the treatment.” “

Benny Landsman and his younger brother Josh both suffer from Canavan disease, a fatal inherited disease. In April, Benny underwent a gene therapy procedure in an attempt to add a corrected gene to his brain cells.


Dayton’s trial got the nod in December and barely started on 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,” child, ”says Rockwell, who does not yet have a date for his daughter’s surgery.

How lucky is the therapy to work? Gene replacement techniques have had notable success, cure children who do not have an immune system, and prevent brain disease. Since 2017, a small number gene therapies have also been approved for sale in the United States, at prices as high as $ 2.1 million per child.

The record prices have sparked the interest of specialist biotechnology companies, which now see activity even in very rare diseases. One, called Aspa Therapeutics, says it plans to start another Canavan gene therapy trial. Its CEO, Eric David, estimates that there are 1,000 children with the disease in the United States and Europe. “For us, that’s enough,” he says.

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

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