Trial name	Primary outcome measure	Secondary outcome measure
Application of Miglustat in Patients With Niemann-Pick Type C [34]	Functional Disability Scale [3]—It was used if VFSS outcome measure could not be performed due to safety issue
A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C [35]	NPC Clinical Severity Score (NPCCSS) [18] 5-Domain NPCCSS [16] NPC-cdb Scale [20]
Arimoclomol Prospective Study in Patients Diagnosed With Niemann Pick Disease Type C [28]	5-Domain NPCCSS [16]	NPC-cdb Scale [20] NPC Clinical Severity Score (NPCCSS) [18]
A Phase I/II study to evaluate Trappsol Cyclo (hydroxypropyl-ß-cyclodextrin) in patients with Niemann-Pick disease type C (NPC-1) to assess what the drug does to the body, and what the body does to the drug, and the side effects and benefits experienced by patients [36]	NPC Clinical Severity Score (NPCCSS) [18]	NPC Clinical Severity Score (NPCCSS) [18]
Open‐Label Study of Long‐Term Safety and Efficacy of Intravenous Trappsol Cyclo (HPβCD) in Niemann‐Pick Disease Type [37]		NPC Clinical Severity Score (NPCCSS) [18]
Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease [38]		NPC Clinical Severity Score (NPCCSS) [18]
VTS-270 to Treat Niemann-Pick Type C1 (NPC1) Disease [39]	4-Domain NPCCSS (ambulation, cognition, fine motor, and swallowing)	NPC Clinical Severity Score (NPCCSS) [18]
Study of Lithium Carbonate to Treat Niemann-Pick Type C1 Disease [40]	NPC Clinical Severity Score (NPCCSS) [18]
Open-label Study of VTS-270 in Participants With Neurologic Manifestations of Niemann-Pick Type C1 [41]		NPC Clinical Severity Score (NPCCSS) [18]
Safety and Efficacy of Miglustat in Chinese NPC Patients [42]		Disease-specific Disability Scale [19]
Adrabetadex for Patients With Nerve Symptoms of Niemann-Pick Type C Disease (NPC) [43]		NPC Clinical Severity Score (NPCCSS) [18]
Longitudinal Study of Cognition With Niemann-Pick Disease, Type C (NPC) [44]	NPC Clinical Severity Score (NPCCSS) [18]