Scientists used CRISPR tech to create a custom-made drug targeted at helping a newborn baby fight a rare genetic disorder.
“We had a patient who was facing a very, very devastating outcome,” Kiran Musunuru, a professor at the University of Pennsylvania and CHOP who was on the team that treated KJ, told Wired.
“We loved him,” Nicole Muldoon, KJ’s mother, told The New York Times, “and we didn’t want him to be suffering.”
Per Wired, KJ got his first dose of the drug on February 25, just 11 days after his doctors asked for the FDA’s permission.
“He really has made tremendous strides,” his father, Kyle Muldoon, told Wired.
Using CRISPR technology, researchers developed a novel medication to help a newborn child combat a rare genetic condition. The medication was effective, according to a remarkable new study that was published in The New England Journal of Medicine. This could be a turning point for the field of genetic medicine and the first time a patient was successfully cured using a custom gene-hacked medication.
The infant, KJ Muldoon, was born with a rare genetic condition known as CPS1 deficiency at Penn Medicine and the Children’s Hospital of Philadelphia (CHOP). The condition arises when a person’s liver cells are unable to break down protein byproducts, leading to dangerously high blood ammonia levels, according to the National Institutes of Health (NIH). Approximately half of children with the disorder pass away in the first few months of life; it is a painful and frequently fatal condition. Those who survive must adhere to very stringent diets until they are old enough to hopefully get liver transplants.
KJ had a bleak future.
Professor Kiran Musunuru of CHOP and the University of Pennsylvania, who was part of the team that treated KJ, told Wired, “We had a patient who was facing a very, very devastating outcome.”.
Given the dire circumstances surrounding KJ’s condition, the family’s medical team presented them with an unusual, experimental choice: instead of waiting years for a liver transplant, which was dangerous, they could try using CRISPR to develop a novel, entirely customized medication that would cure the one mutation in KJ’s liver that was causing the illness. “Yes,” the Muldoons replied.
Nicole Muldoon, KJ’s mother, told The New York Times, “We didn’t want him to be in pain because we loved him.”. “,”.
The researchers’ ability to put KJ’s therapy together so quickly was impressive.
Since CPS1 deficiency is a race against time, numerous scientists from across the nation, including those from Penn, Mass General, Harvard University, the University of California, Berkeley, and other institutions, worked to make sure that KJ’s DNA was free of any other concerning mutations before quickly developing a treatment while he was in the hospital receiving round-the-clock care.
The NYT was informed by Professor Fyodor Urnov, a researcher who worked on KJ’s treatment and the director of Berkeley’s prestigious Innovative Genomics Institute, that “scientists burned a vat of midnight oil on this the size of San Francisco Bay” to get the drug made.
He continued, “There is no precedent in our field for such speed in producing a clinic-grade CRISPR for a genetic disease.”. “Not even close. “.”.
By precisely identifying and rewriting a single gene in the body’s genetic code, the researchers’ drug is intended to base-edit a gene. The medication is comparable to a bubble-wrapped package. With instructions on where to go, the fatty lipid nanoparticles that envelop the base-edit treatment, which is administered via intravenous injection, protect the treatment while it travels to its destination. After entering the liver, the medication finds the affected gene and begins to repair the initial mutation.
The scientists approached the Food and Drug Administration (FDA) when the medication was ready, and the FDA granted permission to administer the medication to the specific patient without the usual FDA approval. Just eleven days after his doctors requested approval from the FDA, KJ received his first dose of the medication on February 25, according to Wired.
According to the New York Times, KJ was in the seventh percentile for weight when he received his first dose of his custom gene-editing medication. His intensely restrictive diet also made it difficult for him to consume protein, and he was unable to sit up on his own. He received a second, higher dose 22 days later after he began to show some improvement. After three doses of the medication, Wired reports that he can now sit up by himself and consume more protein. His doctors are preparing to release him from the hospital and send him home with his parents for the first time; he is currently nine and a half years old.
“He has made amazing progress,” Kyle Muldoon, his father, told Wired.
It’s too early to tell if KJ will eventually require a liver transplant. He will “need to be monitored for the rest of his life,” according to a Penn press release from one of his doctors, Rebecca Ahrens-Nicklas. Additionally, according to Wired, the drug’s manufacturing entities made some in-kind contributions, but the total cost came to around $800,000.
However, there are thousands of conditions like KJ’s — genetic illnesses so uncommon that pharmaceutical companies believe they have little reason to invest the time and money necessary to develop medications that are used by so few people, leaving patients to deal with their symptoms instead. Even though KJ’s treatment is still in the experimental stage, the initial outcomes are extremely encouraging and may pave the way for future custom medications that are specifically targeted at uncommon genetic disorders.
Musunuru said in a statement that “the promise of gene therapy that we’ve heard about for decades is coming to fruition and it’s going to completely transform the way we approach medicine.”. “.”.
Urnov told the NYT, “We all agreed that this was the most important thing we had ever done.”.
