Dear Commons Community,

Doctors at Children’s Hospital of Philadelphia applied a personalized treatment to cure a baby’s genetic disorder, the first time such a procedure has ever been used. , It opens the door to similar therapies for others. Here is an excerpt that appeared in The New York Times. (Baby Is Healed With World’s First Personalized Gene-Editing Treatment)

“Something was very wrong with Kyle and Nicole Muldoon’s baby.

The doctors speculated. Maybe it was meningitis? Maybe sepsis?

They got an answer when KJ was only a week old. He had a rare genetic disorder, CPS1 deficiency, that affects just one in 1.3 million babies. If he survived, he would have severe mental and developmental delays and would eventually need a liver transplant. But half of all babies with the disorder die in the first week of life.

Doctors at Children’s Hospital of Philadelphia offered the Muldoons comfort care for their baby, a chance to forgo aggressive treatments in the face of a grim prognosis.

“We loved him, and we didn’t want him to be suffering,” Ms. Muldoon said. But she and her husband decided to give KJ a chance.

Instead, KJ has made medical history. The baby, now 9 ½ months old, became the first patient of any age to have a custom gene-editing treatment, according to his doctors. He received an infusion made just for him and designed to fix his precise mutation.

The investigators who led the effort to save KJ are presenting their work on Thursday at the annual meeting of the American Society of Gene & Cell Therapy, and are also publishing it in the New England Journal of Medicine.

The implications of the treatment go far beyond treating KJ, said Dr. Peter Marks, who was the Food and Drug Administration official overseeing gene-therapy regulation until he recently resigned over disagreements with Robert F. Kennedy Jr., the secretary of health and human services. More than 30 million people in the United States have one of more than 7,000 rare genetic diseases. Most are so rare that no company is willing to spend years developing a gene therapy that so few people would need.

But KJ’s treatment — which built on decades of federally funded research — offers a new path for companies to develop personalized treatments without going through years of expensive development and testing.

Illnesses like KJ’s are the result of a single mutation — an incorrect DNA letter among the three billion in the human genome. Correcting it requires pinpoint targeting in an approach called base editing.

To accomplish that feat, the treatment is wrapped in fatty lipid molecules to protect it from degradation in the blood on its way to the liver, where the edit will be made. Inside the lipids are instructions that command the cells to produce an enzyme that edits the gene. They also carry a molecular GPS — CRISPR — which was altered to crawl along a person’s DNA until it finds the exact DNA letter that needs to be changed.

While KJ’s treatment was customized so CRISPR found just his mutation, the same sort of method could be adapted and used over and over again to fix mutations in other places on a person’s DNA. Only the CRISPR instructions leading the editor to the spot on the DNA with the mutation would need to be changed. Treatments would be cheaper, “by an order of magnitude at least,” Dr. Marks said.

The method, said Dr. Marks, who wrote an editorial accompanying the research paper, “is, to me, one of the most potentially transformational technologies out there.”

This sounds like an incredible breakthrough.

Tony

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