Trial of gene therapy for CLN7 Batten disease coming to Canada

A multicenter Phase 1/2 clinical trial of a gene therapy for CLN7 Batten disease, a form of late-infantile Batten disease, will soon begin in Canada.

The trial is being supported by funding that includes $768,823 CAD ($543,326 USD) from Conscience, a Canadian nonprofit focused on drug discovery.

“Rare diseases can be incredibly difficult to diagnose and even harder to treat, especially in children. Too often, promising scientific advances struggle to reach patients because conventional drug development and funding models are not designed for very small patient populations and the perceived limited market opportunities that they represent,” Peng Fu, CEO of Conscience, said in a press release.

Anne Fortier,vice president for drug discovery and development at Conscience, added: “Rare diseases sit at the intersection of everything Conscience was built to address: high unmet need, limited commercial incentive, and enormous potential for collaboration to change outcomes for patients.”

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The upcoming trial will be conducted in collaboration with the gene therapy’s developer, Elpida Therapeutics, a nonprofit-styled company focused on developing gene therapies for rare diseases that affect children. The company’s founder, Terry Pirovolakis, created the company after his son, Michael, was diagnosed with an ultrarare disease called SPG50. Elpida is also developing a therapy for that condition and for a rare form of Charcot-Marie-Tooth disease.

Also collaborating on the trial are CureSPG50, a nonprofit group founded by Pirovolakis, and The Hospital for Sick Children (SickKids), an affiliate of the University of Toronto. The announcement from Conscience did not specify exactly when the upcoming trial will begin or where it will be conducted, but noted that the study is expected to treat nine children with CLN7.

“For families facing CLN7 Batten disease, hope is not about simply gaining more time. It is about giving a child the chance to keep walking, talking, playing, learning and being themselves for as long as possible,” Pirovolakis said. “We believe gene therapy has the potential to fundamentally change the trajectory of this devastating disease.”

CLN7 is a form of Batten disease caused by mutations in the MFSD8 gene, which leads to progressive brain damage manifesting in childhood. The experimental gene therapy aims to deliver a working version of this gene to brain cells, thereby slowing disease progression.

We believe gene therapy has the potential to fundamentally change the trajectory of this devastating disease.

A previous Phase 1 study (NCT04737460) tested the therapy in four children with CLN7 and showed that the treatment was generally safe, with preliminary data suggesting it may slow disease progression. The upcoming trial aims to further evaluate the gene therapy’s effect on disease progression.

“Our goal with this trial is bigger than demonstrating that a treatment can be delivered safely, we want to show that we can meaningfully alter the course of CLN7 and give families something they have never had before: a real reason to believe their child’s future can be different,” Pirovolakis said. “And if we can prove that model here, we believe it can help open the door for children living with many other ultra-rare neurodegenerative diseases.”