Niemann-Pick disease type C

MONDO:0018982

NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.

Also known as: NPC, Niemann Pick Disease Type C

20 clinical trials for this condition and its sub-types, 12 tagged with Niemann-Pick disease type C itself.

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Where it sits in the disease tree

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Part of

↑ Autosomal recessive disease (994) ↑ Niemann-Pick disease (22)

Sub-types of Niemann-Pick disease type C

Niemann-Pick disease, type C1 2 trials
Niemann-Pick disease, type C2 1 trial
Niemann-Pick disease type C, adult neurologic onset 0 trials
Niemann-Pick disease type C, juvenile neurologic onset 0 trials
Niemann-Pick disease type C, late infantile neurologic onset 0 trials
Niemann-Pick disease type C, severe early infantile neurologic onset 0 trials
Niemann-Pick disease type C, severe perinatal form 0 trials

Including sub-types (20) Tagged with Niemann-Pick disease type C (12)

Trials to join now! 9 Not yet finished but already full! 6 Completed 4 Terminated 1

Scientists dive into rare cholesterol disorders to uncover clues

Knowledge-focused Stopped early

This study looks at rare genetic disorders where the body can't make cholesterol properly, which can cause birth defects and learning problems. Researchers collect blood, urine, and tissue samples from affected people and their families to learn more about these conditions. The g…

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

Last updated Aug 14, 2026 00:00 UTC

Niemann-Pick disease type C

Where it sits in the disease tree

Scientists dive into rare cholesterol disorders to uncover clues