AAV9.hMCOLN1co

AAV9.hMCOLN1co is an investigational gene therapy being developed for the treatment of mucolipidosis type IV (MLIV), a rare autosomal recessive lysosomal storage disorder. The therapy utilizes an adeno-associated virus serotype 9 (AAV9) vector to deliver a codon-optimized version of the human MCOLN1 gene, which encodes the mucolipin-1 (TRPML1) protein. Mucolipin-1 is a cation channel located in the membranes of endosomes and lysosomes, and its deficiency leads to the accumulation of lipids and proteins, resulting in severe psychomotor retardation and progressive visual loss. By delivering a functional copy of the MCOLN1 gene via intrathecal administration, the therapy aims to restore TRPML1 function and alleviate the clinical manifestations of MLIV. It is currently under evaluation in a Phase 1 clinical trial in pediatric patients.