Niemann-Pick disease type C (NP-C) is a rare autosomal recessive disorder caused by mutations in the NPC1

No abstract

No abstract

No abstract

subjects could sit unassisted. At 24 months after gene therapy, 64% of subjects achieved head control, 50% could sit unassisted, and 18% could stand with support. At 60 months after gene therapy, 75% of subjects achieved head control, 67% of subjects could sit unassisted, 25% of subjects could stand with support, and 8% subjects could walk with support. In contrast, only 4% of the subjects in the NHDB control group achieved key motor milestones (P<0.0001 ). These results demonstrate that the attainment of milestones is sequential in nature and that the percentage of patients achieving more advanced milestones (eg, standing with support, walking with assistance) increases over time.The number of patients achieving full head control and sitting unassisted was significantly higher in patients treated with eladocagene exuparvovec compared to the NHDB control group. The results indicate that patients with AADC deficiency treated with eladocagene exuparvovec show significant improvements in achieving motor milestones, impacting the natural history of disease.