The lone volunteer in a unique study involving a gene-editing technique has died, and those behind the trial are trying to figure out what killed him.
Terry Horgan, 27, who had Duchenne muscular dystrophy, died last month, according to Cure Rare Disease, a Connecticut-based nonprofit founded by his brother, Rich, to try to save him from the fatal condition.
Although little is known about how he passed away, his death occurred during one of the first studies to test a gene-editing treatment built for one person.
Horgan’s death has raised questions about the overall prospect of such therapies, which have buoyed hopes among many families facing rare and devastating diseases.
“This whole notion that we can do designer genetic therapies is, I would say, uncertain,” said Arthur Caplan, a medical ethicist at New York University who is not involved in the study. “We are out on the far edge of experimentation.”
The early-stage study was sponsored by Cure Rare Disease, led by Dr. Brenda Wong at the University of Massachusetts Chan Medical School and approved by the Food and Drug Administration.
The hope was to use a gene-editing tool called CRISPR to treat Horgan’s particular form of Duchenne muscular dystrophy. The rare, genetic muscle-wasting disease is caused by a mutation in the gene needed to produce a protein called dystrophin. Most people with Duchenne die from lung or heart issues caused by it.
At this point, it’s unclear whether Horgan received the treatment and whether CRISPR, other aspects of the study or the disease itself contributed to his death.
Deaths are not unheard of in clinical trials, which test experimental treatments and sometimes involve very sick people.
But trials involving CRISPR are relatively new. And Fyodor Urnov, a CRISPR expert at the Innovative Genomics Institute at the University of California, Berkeley, said any death during a gene therapy trial is an opportunity for the field to have a reckoning.
“Step one is to grieve for the passing of a brave human soul who agreed to be basically a participant in an experiment on a human being,” Urnov said. “But then, to the extent that we can, we must learn as much as we can to carve out a path forward.”
A statement from Cure Rare Disease said multiple teams across the country are looking into the details of the trial and its outcome, and the company intends to share findings with the scientific community.
“It will probably be 3-4 months to come up with a full conclusion,” spokesman Scott Bauman said. “At this stage of the game, saying anything is pure speculation.”
The company, which also is working on 18 other therapeutics, said in its statement that the teams’ work is essential not only to shed light on the study’s outcome but also “on the challenges of gene therapy broadly.” Meanwhile, it said, “We will continue to work with our researchers, collaborators, and partners to develop therapies for the neuromuscular diseases in our pipeline.”
Bauman said the company has filed a report on the death with the FDA, as required. The FDA declined to release or confirm the report.
Safety issues have arisen in gene therapy studies before.
Late last year, Pfizer reported the death of a patient in its early-stage trial for a different Duchenne muscular dystrophy gene therapy. And in a major earlier setback for the gene therapy field, 18-year-old Jesse Gelsinger died in 1999 during a study that involved placing healthy genes into his liver to combat a rare metabolic disease.
Scientists later learned that his immune system overreacted to the virus used to deliver the therapy. Many recent studies, including the Cure Rare Disease trial, use a different virus that’s considered safer.
Another difference: The recent trial involved only one person — a type of trial that Caplan, the medical ethicist, is skeptical about.
Horgan’s death, Caplan said, “may make us think whether we really do like studies that are just on one person, and do we want to say: ‘No, ethically, you’ve got to at least have a trial where you line up five, 10, 20 people, (and) you learn from the data.’ ”
On the Cure Rare Disease website, Horgan was described as a “medical pioneer” who “will be remembered as a hero.”
The Western Journal has reviewed this Associated Press story and may have altered it prior to publication to ensure that it meets our editorial standards.
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