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

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Niemann-Pick disease, type C1

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth