BFB-101

BFB-101 is a gene therapy candidate developed for the treatment of hereditary spastic paraplegia type 47 (SPG47), an ultra-rare, progressive neurodevelopmental and neurodegenerative disorder caused by loss-of-function mutations in the AP4B1 gene. The therapy uses an adeno-associated virus serotype 9 (AAV9) vector to deliver a codon-optimized, full-length human AP4B1 cDNA under control of a ubiquitous promoter. It is administered as a single dose via intra-cisterna magna injection to target cells in the central nervous system. The goal is to restore functional AP4B1 protein expression, thereby halting or reversing disease progression characterized by lower-limb spasticity, developmental delays, and intellectual disability in children. Preclinical studies have shown that BFB-101 restores AP4 function and improves motor outcomes in animal models. The program has received orphan drug and rare pediatric disease designations from the FDA for SPG47[2][3][5][6][7][8].

Other names

AAV9/CBh-hAP4B1AAV9/AP4B1