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The federal government recently awarded millions of dollars in research funding to develop gene therapies for rare diseases, on an ambitious timeline that calls for human trials in three years
Two of theseven recipients are based in Philadelphia. One of them went to scientists at the Children’s Hospital of Philadelphia to continue their work on gene therapy that they recently used to treat a baby with a rare genetic disorder. The other award was given to GEMMABio, the gene therapy company founded by pioneer Jim Wilson, who had athree-decade-long career at the University of Pennsylvania
Wilson explained that patients with rare genetic diseases have problems or mutations in their genetic code that cause health problems, and the traditional approach has been to change the patient’s genes. However, many patients with rare diseases have unique mutations, so each patient might need their own, individualized gene therapy
Wilson and his group will work withan AI gene editing company to develop treatments that need not be unique to each patient
“What we’re trying to achieve in this program is to find a way to do that efficiently and do it at scale to ensure access,” Wilson said
He added that he is “delighted” the government decided to fund this research, because the pharmaceutical business will not fund these kinds of innovative treatments for rare diseases. This is where the federal government is stepping in
“They’re basically filling a gap with the hope that if we show that we can do it and we can do it at scale, then we can pass the baton to more traditional drug developers.”
The award from the government’s Advanced Research Projects Agency for Health will fund Wilson’s research on two diseases:Maple syrup urine disease, a condition where the body cannot break down certain parts of proteins, causing these chemicals to build up in the blood, and requiring a restrictive and special diet; andhomozygous familial hypercholesterolemia, a genetic heart condition where cells are less able to remove cholesterol from the blood, which increases the risk of heart disease in childhood.
Right now, these diseases can be treated, but not cured
Wilson will also tackle the problem of how to get a gene therapy into a patient’s body, which he said “defines 40 years of my career.”
He said that while gene therapy is “the ultimate drug” because it addresses the cause of the problem, it is much larger than other drugs so patients cannot just swallow them. Up until now, he said every gene therapy has used a virus to deliver the treatment to a patient’s body, which works, but the patient’s immune system will also respond to the virus, which makes it hard to deliver the same drug again
“If that dose was too low or it went away, you’re essentially vaccinated against your own therapy,” he said
Wilson’s research under this award would use small fat-based molecules called lipid nanoparticles to deliver gene therapies
Required timeline is ‘very quick, but it’s certainly not impossible’
The federal funding requires human trials to start within three years, which is fast when it comes to scientific research, saidJaideep Patel, a cardiologist at Johns Hopkins Medicine, who co-authored a recent review article on gene therapies for homozygous familial hypercholesterolemia
“And so you worry because usually we’re used to animal studies, which can take like excess of 10 years before it even makes it into human trials. So trying to do this at three years, it just seems like very, very quick, but it’s certainly not impossible.”
However, it is a new cutting-edge treatment that could potentially require only one dose, which makes it different from the existing gene therapies for the condition, saidAnandita Kulkarni, a preventive cardiologist who co-authored the review article with Patel. She’s also regional medical director of preventive cardiology and cardio-obstetrics at Baylor Scott & White The Heart Hospital – Plano in Texas
“This has the potential to really mitigate the disease burden,” she said. “So in an ideal vision, you would make a diagnosis of homozygous familial hypercholesterolemia and within a single administration of this, essentially quote unquote cure the disease.”
Patel said this would address one of the biggest shortcomings with the current treatments — having patients stay on their medication
“We know that after the first year, most patients will stop, maybe 50% of the patients will stay sort of true to their medications and continue to take it on a routine basis,” he said
“Is there a way to just give it a one-time lifetime injection or treatment and then sort of be done with it? That’s where the frontier lies in terms of gene therapy.”
Wilson said the timeline for his research is challenging, but he views it as manageable
“I’ve been doing this a long time. The real time pressure comes from the patients living with those diseases that want a solution,” he said
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