After Sarepta reported the death of a patient who had recently taken the gene therapy Elevidys, patient advocacy group Parent Project Muscular Dystrophy stepped up—as they always do.
I’ve always thought one of the boldest areas in biotech is Duchenne muscular dystrophy. Here’s a disease that robs young kids of muscle strength, slowly stripping away their childhood. There have been great advances in understanding the science behind the disease and thankfully we now have some treatments that seek to correct the underlying genetic cause.
But the path to developing those therapies has been difficult. Sarepta Therapeutics, which this week announced the death of a patient who had recently taken its approved gene therapy Elevidys, has been at the forefront.
I won’t get into the backstory. We have plenty of stories about how Sarepta has brought its gene therapies through the clinic and to the market, courting controversy but ultimately offering a lot of hope for these patients.
Instead what I want to highlight today is the patient community that has been there every step of the way. I’ve reported on Duchenne muscular dystrophy (DMD) drug development for years now and I’ve watched one group in particular, the Parent Project Muscular Dystrophy, stand tall with every bump in the road. In a statement following the death, the advocacy group expressed its deep sadness.
“Our hearts are heavy today. The loss of a child is a tragedy beyond words, and our entire community grieves alongside this family and their loved ones,” Pat Furlong, founding president and CEO of PPMD, said in a statement.
Then, PPMD got to work explaining the context to the many families out there hoping that one of these gene therapies might provide their son (or rarely, daughter) with a new lease on life.
PPMD explained that this was the first case of acute liver failure that resulted in death after receiving Elevidys. It was a known risk of the treatment, particularly with gene therapies that deliver the genetic fix via adeno-associated viruses. But in 800 patients who have received Elevidys in clinical trials and since it was approved in June 2023, this level of severity had never before been seen, the group said.
Analysts similarly said the benefit of Elevidys still seems to outweigh the risk. The patient was also said to have had a recent cytomegalovirus (CMV) infection, which can also cause liver damage. Sarepta zeroed in on that factor as key to its investigation.
“We recognize the courage it takes for families to pursue new treatment options in the fight against Duchenne,” Furlong wrote. “At PPMD and as a community, we remain committed to advocating for transparency, safety, and ongoing research to ensure that every individual has the information they need to make informed decisions.”
The group urged patients and their families to reach out to their doctors to discuss concerns, while Sarepta actively works behind the scenes to examine the circumstances that led to the death. PPMD’s statement was a stark reminder that the work has to go on.
Sarepta, for its part, sent a letter directly to the patient community, in addition to the usual press release and investor update, pledging to be transparent throughout the investigation into the death.
We’ve been talking a lot about transparency these days at BioSpace. Here we have a shining example of how to do just that while keeping patients squarely in the front seat.
While the investigation goes on, Furlong said the DMD community will keep going. “Let us lean on one another in this time of mourning as we grieve, seek understanding, and push forward with hope.”
And on Wednesday, a little inkling of hope did arrive. RegenxBio reported that a single 3-year-old patient who received its DMD gene therapy RGX-202 expressed the desired microdystrophin protein at high levels as compared to placebo, indicating that the therapy may alter the course of the disease. And importantly, there were no serious adverse events or events of special interest—including liver injury—in the Phase I/II test.
It’s very early days for this treatment, but the timing of the announcement could not have been better.
But RegenxBio is not the only company working in this space. Experts told BioSpace in January that DMD is poised for a breakthrough year. Avidity Biosciences, Wave Life Sciences, Dyne Therapeutics and Capricor Therapeutics are also developing new therapies.
Dyne reported earlier this week that its exon skipper DYNE-251 showed functional benefits in patients through 18 months. The data were strong enough that analysts think the company can nab an accelerated approval as early as next year.
This has proven to be a dramatic week for the DMD community, but as PPMD has reminded us, this essential research must go on.
