protein replacement therapy for SPG50

Protein replacement therapy for SPG50 is an investigational biologic therapy being developed by CureSPG50 in collaboration with the University of British Columbia. It is designed to treat Spastic Paraplegia Type 50 (SPG50), an ultra-rare neurodegenerative disorder caused by mutations in the AP4M1 gene, which leads to a deficiency in the AP-4 complex subunit mu-1 protein. The therapy utilizes intranasal delivery to transport functional recombinant AP4M1 protein directly to the central nervous system, bypassing the blood-brain barrier. By restoring the levels of functional AP4M1, the treatment aims to rescue the function of the AP-4 adaptor complex, which is critical for vesicular trafficking in neurons, thereby halting or slowing disease progression. The program is currently in preclinical development.

Other names

Protein Replacement Therapy for SPG50