Safety and Efficacy of AAV9/AP4B1 (BFB-101) For Patients With AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47)

Safety and Efficacy of AAV9/AP4B1 For Patients with AP4B1-related Hereditary Spastic Paraplegia Type 47 (SPG47): A Phase 1/2 Single-Center, Open-Label Study of Stereotactic Intra-cisterna Magna Administration. The goal of this clinical trial is to evaluate whether a gene therapy can safely treat children with SPG47, a rare genetic condition that causes progressive spasticity and developmental delays. The main questions it aims to answer are: * Is the gene therapy safe and well tolerated? * Does the gene therapy improve motor function and developmental outcomes? Participants will: * Undergo screening assessments to confirm eligibility * Receive a single dose of the gene therapy vector * Attend follow-up visits for safety monitoring and developmental assessments over the course of five years

NCT Number	NCT06948019
Lead Sponsor	BlackfinBio Ltd Collaborators: Boston Children's Hospital
Conditions	HSP, Hereditary Spastic Paraplegia, Hereditary Spastic Paraparesis, Hereditary Spastic Paraplegia Type 50, Hereditary Spastic Paraplegia Type 47, Hereditary Spastic Paraplegia Type 51, Hereditary Spastic Paraplegia Type 52, SPG47 +5 more
Enrollment	5 participants
Start Date	2025-08
Primary Completion	2030-08 (estimated)
Study Completion	2032-08 (estimated)
Updated on ClinicalTrials.gov	2025-04-28