In a major step forward for the Fragile X community, UMass Chan Medical School has officially licensed a groundbreaking RNA-based treatment to QurAlis Corporation. This brings an innovative therapeutic approach, years in the making, closer to clinical trials and, hopefully, into the hands of families affected by Fragile X syndrome (FXS).
For families living with Fragile X, progress can sometimes feel like it moves at a glacial pace. But behind the scenes, researchers have been rewriting the scientific story of this condition one nucleotide at a time. And now, the potential for a truly disease-modifying therapy is no longer a far-off dream.
A Discovery That Changed Everything
Traditionally, Fragile X has been understood as a gene silencing disorder. The FMR1 gene, responsible for producing a crucial protein (FMRP), was thought to be completely turned off in most individuals with the full mutation. But research led by Drs. Joel Richter and Sneha Shah at UMass Chan Medical School, funded by FRAXA Research Foundation, upended that assumption.
Their team discovered that in most cases, the gene isn’t silent at all. It’s active, but it produces a faulty message. A mis-spliced form of RNA, known as FMR1-217, prevents the gene from making the essential FMRP protein. This finding rewrote the rulebook.
Enter ASOs, or antisense oligonucleotides. These small, synthetic DNA-like molecules can bind to RNA and modify how it’s processed. In lab studies using patient-derived cells and cerebral organoids, Dr. Richter’s team showed that ASOs can correct the mis-splicing, restore normal RNA processing, and spark production of FMRP — a breakthrough that redefined what’s possible in Fragile X treatment.
As Dr. Mike Tranfaglia, FRAXA's medical director, put it during a recent board meeting, “This is not just a hopeful new treatment. It’s a whole new way of thinking about Fragile X.”
From the Lab to the Clinic
Of course, scientific discovery is just the first step. Turning a promising approach into a real-world treatment takes resources, regulatory know-how, and industry collaboration. That’s where QurAlis comes in.
Headquartered in Cambridge, MA, QurAlis is a leader in developing precision therapies for neurodegenerative diseases. With their FlexASO® platform and deep experience in RNA-targeted treatments, they’re an ideal partner to bring this therapy through preclinical development and into clinical trials.
Their exclusive license from UMass Chan Medical School covers the novel mechanism and includes the validated target FMR1-217. Early findings even suggest a potential biomarker, detectable in blood and cerebrospinal fluid, that could help track the therapy’s effectiveness. That’s a big deal for clinical development.
QurAlis CEO Kasper Roet, PhD, called it “a completely new type of therapeutic approach through splice correction.”
This is not a symptom-targeting medication. It’s a therapy that aims to correct the root cause of Fragile X in a large majority of patients, potentially up to 80 percent.
From Discovery to Development
QurAlis is now preparing IND-enabling studies, the critical stage before applying to begin human clinical trials.
This licensing agreement is a major milestone. It’s the result of sustained investment by FRAXA and others, visionary research, and a commitment to taking bold risks.
As Dr. Richter said, this partnership represents “a meaningful step in the process of taking basic biological discoveries and turning them into practical therapies that can benefit patients in the clinic.”
We couldn’t agree more.
