BridgeBio Pharma has presented positive preliminary data from 11 participants dosed in a phase 1/2 trial of BBP-812, an investigational intravenous adeno-associated virus serotype 9 (AAV9) gene therapy in development for the treatment of an ultra-rare, fatal pediatric brain disease.
CANaspire is a phase 1/2 open-label study designed to evaluate the safety, tolerability, and pharmacodynamic activity of BBP-812 in pediatric patients with Canavan disease. Highlights of the results include a continued, progressive improvement in motor function and achievement of motor milestones at 12-months post-treatment — a statistically significant change in contrast to the disease course observed in BridgeBio’s ongoing CANinform natural history comparator study. The data also revealed significant and sustained reductions in N-acetylaspartate (NAA) levels in urine, cerebrospinal fluid and brain in all participants who received low dose BBP-812, and encouraging trends of further reduction in urine NAA in participants who received a high dose.
Canavan is caused by an inherited mutation of the ASPA gene that codes for aspartoacylase, a protein that breaks down the compound NAA. Deficiency of aspartoacylase activity results in accumulation of NAA, and ultimately results in toxicity to myelin, the insulating layer around neurons. As an AAV gene therapy, BBP-812 seeks to deliver functional copies of the ASPA gene throughout the body and into the brain, correcting the disease.
BBP-812 has been granted regenerative medicine advanced therapy (RMAT), orphan drug, rare pediatric disease and fast track designations from the FDA, as well as orphan drug designation from the EMA. FDA’s rare pediatric disease designation comes with a priority review voucher if BBP-812 wins approval.