Nova Scotia girl with ultra-rare disorder to join pioneering gene therapy trial

Harper Tanton, an eight-year-old from Cole Harbour, Nova Scotia, lives with severe mobility and speech challenges caused by the ultra-rare CTNNB1 syndrome, a genetic mutation that blocks production of a crucial developmental protein. After years of searching and a mistaken cerebral palsy diagnosis, her parents Tara and Scott Tanton learned of the condition through extensive online research and genetic testing. They connected with the CTNNB1 Foundation, based in Ljubljana, Slovenia, which is conducting a gene-replacement clinical trial that has already helped two children begin walking and speak more clearly.

Harper is scheduled to undergo the experimental procedure this autumn, with expectations that her body will start producing normal protein levels within six weeks. The trial’s total cost is estimated at $300,000, with the foundation funding the therapy itself while families must cover roughly €100,000 in hospital fees plus travel and lodging. Community fundraisers across Nova Scotia have been organized to help offset these expenses.