BlackfinBio Receives FDA Clearance to Begin Clinical Trial for Gene Therapy in Rare Childhood Motor Disorder

BlackfinBio, a UK-based gene therapy company, has received FDA clearance to begin a Phase 1/2 trial of its AAV-based candidate BFB-101 for Hereditary Spastic Paraplegia Type 47 (SPG47), a rare pediatric neurodegenerative disorder caused by mutations in the AP4B1 gene. The trial, to be conducted at Boston Children’s Hospital, is expected to start recruitment later in 2025 and will assess a single intrathecal (ICM) dose of the therapy in up to five children.

SPG47 is characterized by early-onset spasticity, motor and cognitive impairments, and progressive loss of function. There are currently no approved treatments. BFB-101 delivers a functional copy of AP4B1 via an adeno-associated virus, aiming to halt or reverse disease progression. 

The FDA has granted both Orphan Drug Designation and Rare Pediatric Disease Designation to the program.

The trial's primary goal is to assess safety, with secondary outcomes measuring changes in motor skills, development, and quality of life. BFB-101 was originally developed at the University of Sheffield by Professor Mimoun Azzouz, with support from Cure AP-4 and funding from LifeArc and the EU’s Horizon 2020 initiative. Preclinical data reportedly showed restoration of AP-4 function and motor improvement in animal models.