The Real-World Experience of Niemann-Pick Disease Type C: Patient and Caregiver Perspectives to Inform Future Therapeutic and Policy Directions
This international cross-sectional survey of patients and caregivers reveals that Niemann-Pick disease Type C imposes a profound multidimensional burden characterized by universal neurological involvement and significant psychosocial strain, while highlighting critical global inequities in diagnosis, fragmented care pathways, and unequal access to therapies that necessitate improved diagnostic awareness and standardized patient-centered outcomes.