A drug company abandoned a treatment for ‘bubble boy disease.’ After a 5-year fight, this little California girl is about to get it

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Later this spring, a little girl in California who essentially has no immune system will receive a lifesaving treatment for “bubble boy disease” thanks to the persistence of a dogged g…

Later this spring, a little girl in California who essentially has no immune system will receive a lifesaving treatment for “bubble boy disease” thanks to the persistence of a dogged group of parents, a pediatrician, a veteran newsman and a few episodes of “Grey’s Anatomy.”The Boy in the Plastic Bubble

Seersha is expected to get the treatment next month. She’ll become only the second child in the US in the past five years to receive it; the first child received it earlier this month. “It has not escaped our attention at FDA that there have been some clouds on the horizon in gene therapy,” Dr. Peter Marks, head of the US Food and Drug Administration’s Center for Biologics Evaluation and Research, said at a biotechin California in October. “We really want to try to see what we can do to move things forward.”

In a statement to CNN, an Orchard spokesperson wrote that “after encountering technical challenges related to the commercial-grade manufacture of this particular therapy, we made the very difficult decision to limit additional investment in [the SCID gene therapy].” The spokesperson spoke on the condition of anonymity.

Weighing 6 pounds and 10 ounces, Seersha appeared perfectly healthy, and her parents took her on family outings, going to Dole Plantation and Waikiki Beach when she was five days old. Not only had they been going everywhere with their new baby, but Seersha’s big brother and sister had been affectionately pawing all over her.

The next day, Shayla and Seersha were on a military medical transport flight to Los Angeles. Seersha was in an incubator in the front of the plane, and the other patients were kept in the back to decrease the chances they could get her sick. The UCLA doctors laid out two longer-term options. Seersha could receive a stem cell transplant, which is lifesaving and the standard treatment for SCID. Doctors would test her mother, father, brother, and sister and determine the best genetic match, and then would extract cells that specialize in forming blood cells and give them to Seersha.

Kohn explained to Shayla that doctors in the US and UK had done a clinical trial with dozens of children with this gene therapy and the results had been very good, but Seersha couldn’t participate since the trial had enrolled its last patient. The treatment wasn’t on the market — Orchard had yet to apply for FDA approval — so she couldn’t get it that way, either.

After that year, her weekly enzyme infections started to kick in, and Seersha could go into other rooms of the house and be near her immediate family. But still, her immune system wasn’t very strong: Normal T cell levels for a child her age are about 2,390 and Seersha never got above 250. Whenever Dr. Fyodor Urnov, a scientist at the Innovative Genomics Institute at the University of California, Berkeley, gives a presentation about ADA-SCID, he starts with a picture of Kohn next to a boy he treated in the clinical trial. Kohn has been working on this therapy for decades, Urnov explains to his audience, persevering through countless hurdles.

By 2016, when Orchard launched, the clinical trial results looked promising, with 100% survival in 32 patients, according to a companyFour years later, when Orchard announced it would reduce investment in the gene therapy, Shayla Sulack called Kohn asking if Seersha would ever get the treatment.

 

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