Scientists tried to save a man from a serious illness with the help of innovative therapy, but the patient died unexpectedly, and doctors cannot understand the reason

A volunteer involved in a unique gene-editing study has died, and those behind the trial are now trying to figure out what killed him. Read more about this publication APNews.

Photo: IStock

Terry Horgan, 27, who suffered from Duchenne muscular dystrophy, died in October, according to Cure Rare Disease, a Connecticut-based nonprofit. It was founded by Terry's brother, Richam, to try and save him from a terminal illness.

Although not much is known about how he died, the guy's death occurred during one of the first studies to test gene editing designed specifically for one person. This raises questions about the overall promise of such treatments, which have given hope to many families facing rare and devastating diseases.

“All of this makes us understand that the development of genetic therapy is highly questionable,” said Arthur Kaplan, a medical ethicist at New York University who is not involved in the experiment.

The early-stage study was sponsored by a nonprofit led by Dr. Brenda Wong of the University of Massachusetts Chan School of Medicine and approved by the US Food and Drug Administration (FDA). The hope was to use a gene-editing tool called CRISPR to treat Horgan's special form of Duchenne muscular dystrophy. This rare genetic muscle wasting disorder is caused by a mutation in a gene needed to produce a protein called dystrophin. Most people with Duchenne die from lung or heart problems it causes.

At this point, it is unclear whether Horgan was receiving treatment and whether CRISPR, other aspects of the study, or the disease itself contributed to his death. Deaths are not uncommon in clinical trials that test experimental treatments and sometimes involve very sick people.

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But trials using CRISPR are relatively new. Fedor Urnov, a CRISPR expert at UC Berkeley's Institute for Innovative Genomics, said any death during a gene therapy trial is an opportunity for scientists to explore.

“The first step is to mourn the departure of a brave human soul who agreed to be, in fact, a participant in an experiment on a person,” Urnov noted. “But we need to learn as much as we can to pave the way forward for research.”

Cure Rare Disease said in a statement that several teams across the country are studying the details of the trial and its results, and the company intends to share these results with the scientific community.

“It will probably take 3-4 months to come to a full conclusion,” says Scott Bauman. “At this stage, saying anything is pure speculation.”

The company, which is also involved in 18 other therapeutics, said the team's work is important to shed light not only on the results of the study, but also "on the problems of gene therapy in general." In the meantime, the announcement says, "We will continue to work with our researchers, staff and partners to develop treatments for neuromuscular disease."

Bauman said the company has filed a patient death report with the FDA as required.

The key question is whether CRISPR played a role in Horgan's death.

A chemical tool can be used to "edit" genes by cutting or replacing DNA. The tool has changed genetic research and led to the development of dozens of experimental treatments. The inventors of the instrument received the Nobel Prize in 2020.

In this case, the scientists used a modified form of CRISPR to increase the activity of the gene. The CRISPR therapeutic agent is injected directly into the body and delivered to cells via a virus.

But CRISPR is not perfect.

“We know that CRISPR can miss. We know that CRISPR can be partially effective. And we also know that there can be problems with viral carriers,” Kaplan said.

Safety issues have already arisen in gene therapy studies. Late last year, Pfizer reported the death of a patient in an early-stage trial for another gene therapy for Duchenne muscular dystrophy. And in an earlier failure in the field of gene therapy, 18-year-old Jesse Gelsinger died in 1999 during a study that placed healthy genes in his liver to fight a rare metabolic disorder.

Scientists later learned that his immune system overreacted to the virus used to deliver the drug. Many recent studies, including the Cure Rare Disease study, use a different virus that is considered safer.

Another difference? Only one person participated in this experiment - Kaplan is skeptical about this type of test.

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Horgan's recent death, he said, "may make us wonder if we really need research focused on just one person."

Pioneer

On the company's website, Horgan was described as a "pioneer" who would be "remembered as a hero".

“As I grew up and began to understand what it meant to have Duchenne [muscular dystrophy], my concerns about the disease began to grow as it began to manifest itself,” Horgan wrote. “For many years there has been little or no research.”

Horgan was included in the study on 31 August. The plan was to suppress his immune system and prepare his body for a single gene therapy administered intravenously at the UMass medical school followed by observation in the hospital. The company explained that the therapy is designed to increase levels of an alternative form of the protein dystrophin using CRISPR to stabilize or potentially reverse the progression of symptoms.

Urnov, scientific director of technology and translation at the Berkeley Genomics Institute, noted that no other research has targeted the disease using this type of virus.

Other gene therapy trials, such as those targeting blood disorders, sickle cell anemia and beta thalassemia, involve removing stem cells from someone's blood, using CRISPR in a lab, and then injecting the altered cells back into the person. For the first time, CRISPR was used to edit genes in an organism to eliminate a blindness-causing mutation.

Given the exclusivity of the "rare disease cure" approach, Urnov is not convinced that Horgan's death will have a major impact on the use of gene therapy to treat diseases. But he believes that determining the exact cause will help scientists around the world.

“History teaches us that in the case of such deaths, which were rare, a deep dive into what happened was critical to moving forward,” he concluded.

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