Table 6.

Clinical evidence summary: NPC disease.

Author Year (Reference)	Enzyme	MoA (as Per Author’s Comments)	Clinical Study Type	Study Objective	Summary Outcomes
Miglustat
Patterson 2007 [81]	Sphingomyelinase	Unclear	Randomized controlled trial (MIG vs. standard care) (29 participants aged 12 years and over and 12 participants aged under 12 years)	Efficacy and safety	At 12 months, HSEM velocity had improved in participants treated with miglustat versus those receiving standard care; results were significant when participants taking benzodiazepines were excluded (p = 0.028). Children showed an improvement in HSEM velocity of similar size at 12 months. Improvement in swallowing capacity, stable auditory acuity, and a slower deterioration in ambulatory index were also seen in treated participants older than 12 years. Miglustat 200 mg 3 times daily was well tolerated and consistent with that seen in trials in type 1 Gaucher disease (at half the dose).

Abbreviations: HSEM, horizontal saccadic eye movement; MIG, miglustat; MoA, mode of action.