Bringing ASO Treatment from the Lab to the Clinic
In an exciting step toward a definitive treatment for Fragile X syndrome (FXS), QurAlis Corporation and UMass Chan Medical School have announced a new partnership. This collaboration aims to harness antisense oligonucleotide (ASO) splicing technology to develop potential therapies for FXS.
A Remarkable Fragile X Discovery Points to a Solution
The partnership builds on innovative research by Dr. Joel RIchter and colleagues at UMass Chan Medical Center, funded by FRAXA Research Foundation. The team discovered that the FMR1 gene is not entirely inactive in individuals with Fragile X, as was previously thought. Instead, it often produces a mis-spliced messenger RNA that fails to generate the necessary protein, FMRP. With additional funding from FRAXA, the researchers then developed an ASO to neutralize the deviant messenger RNA, potentially restoring normal FMRP production and reversing the effects of the Fragile X syndrome mutation!
This was a remarkable discovery; however, a scientific discovery is not a new treatment. To move this breakthrough from the lab and into clinical trials, a pharma partner is necessary. Today’s announcement by UMass and QurAlis is a major leap forward.
Bridging the Gap with Precision Medicine
QurAlis, based in Cambridge, MA, and renowned for its precision medicine innovations in neurodegenerative diseases, is extending its expertise to FXS. With its proprietary FlexASO™ Splice Modulator Platform, QurAlis seeks to correct the abnormal splicing of the FMR1 gene, which is at the heart of FXS pathology.
Dr. Joel Richter, Professor of Molecular Medicine at UMass Chan and a long-time FRAXA investigator, expressed enthusiasm about the partnership.
“We are excited to be partnering with QurAlis on the next step of this research,” said Dr. Richter. “QurAlis’ translational knowledge and clinical trial experience in antisense oligonucleotide splicing for neurodegenerative disorders is an important component for bridging the gap between biomedical discoveries made in the laboratory and delivering therapies to patients in the clinic. With their help, we are hopeful that one day we may be able to offer patients with Fragile X meaningful treatment options.”
Kasper Roet, CEO and co-founder of QurAlis, highlighted the synergy between the two institutions: "Our collaboration with UMass Chan sets a new precedent in the treatment of neurological diseases. By leveraging our splicing expertise, we are hopeful that our efforts will soon lead to effective treatment options for individuals affected by FXS."
A Serendipitous Discovery
When FRAXA first funded the Richter team to conduct this research, no one anticipated the serendipitous discovery that pointed to ASOs to treat Fragile X syndrome. Without FRAXA funding, high risk/high reward research like this would not happen.
“This represents the biggest advance to date in the development of curative or definitive therapeutics for Fragile X” said Dr. Michael Tranfaglia, Medical Director and co-founder of FRAXA Research Foundation.
