Stable or improved neurological manifestations during miglustat therapy in patients from the international disease regis
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RESEARCH
Open Access
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study Marc C Patterson1* , Eugen Mengel2, Marie T Vanier3, Barbara Schwierin4, Audrey Muller4, Peter Cornelisse4, Mercè Pineda5 and On behalf of the NPC Registry investigators
Abstract Background: Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological degeneration, where the rate of neurological disease progression varies depending on age at neurological onset. We report longitudinal data on functional disease progression and safety observations in patients in the international NPC Registry who received continuous treatment with miglustat. Methods: The NPC Registry is a prospective observational cohort of NP-C patients. Enrolled patients who received ≥1 year of continuous miglustat therapy (for ≥90 % of the observation period, with no single treatment interruption >28 days) were included in this analysis. Disability was measured using a scale rating the four domains, ambulation, manipulation, language and swallowing from 0 (normal) to 1 (worst). Neurological disease progression was analysed in all patients based on: 1) annual progression rates between enrolment and last follow up, and; 2) categorical analysis with patients categorised as ‘improved/stable’ if ≥3/4 domain scores were lower/unchanged, and as ‘progressed’ if
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