Niemann-Pick disease type C
MONDO:0018982NPC 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
19 clinical trials for this condition and its sub-types, 12 tagged with Niemann-Pick disease type C itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Niemann-Pick disease type C
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Niemann-Pick disease, type C1 2 trials
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Niemann-Pick disease, type C2 1 trial
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New york program offers extra screening for 100,000 newborns
Diagnosis By invitation onlyScreenPlus is a large pilot program that offers families the option to have their newborn screened for a panel of rare genetic disorders, in addition to standard newborn screening. The study aims to screen 100,000 infants born at eight hospitals in New York. Researchers will eval…
Sponsor: Albert Einstein College of Medicine • Aim: Diagnosis
Last updated Jul 30, 2026 00:00 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis 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