She has an ultra-rare disease. Now this N.S. girl will be one of the first to test a possible cure

Harper Tanton, an 8-year-old Nova Scotia girl with CTNNB1 syndrome, will be the fourth child in the world to participate in a gene replacement therapy clinical trial. The trial, based on existing platforms used for spinal muscular atrophy, is being conducted by researchers at the CTNNB1 Foundation in Ljubljana, Slovenia, after the family and other patient families fundraised millions to enable the research.

This is an early-stage trial; clinical translation and real-world efficacy remain to be established.