Niemann-Pick disease, type C1

MONDO:0009757

Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.

Also known as: Niemann-Pick disease, type C1, type C1 Niemann-Pick disease, NPC1, Niemann-PICK disease, type C1, Niemann-Pick disease type C1, Niemann-Pick disease with cholesterol esterification block, Niemann-Pick disease without sphingomyelinase deficiency, Niemann-Pick disease, chronic neuronopathic form

8 clinical trials for this condition and its sub-types, 2 tagged with Niemann-Pick disease, type C1 itself.

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Where it sits in the disease tree

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↑ Niemann-Pick disease type C (13)

Including sub-types (8) Tagged with Niemann-Pick disease, type C1 (2)

Not yet finished but already full! 1 Completed 1

Light-Based brain cap could replace radiation scans for kids

Knowledge-focused Completed

This study tested whether two light-based technologies, fNIRS and DCS, can safely measure brain activity in children with rare neurocognitive disorders like Niemann-Pick disease and Smith-Lemli-Opitz syndrome. 73 participants, including healthy volunteers, wore a cap with lights …

Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused

Last updated Sep 18, 2026 00:00 UTC

Niemann-Pick disease, type C1

Where it sits in the disease tree

Light-Based brain cap could replace radiation scans for kids