Niemann-Pick disease, type C1
MONDO:0009757Type 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
9 clinical trials for this condition and its sub-types.
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New pill shows promise for rare childhood diseases
Disease control Recruiting nowThis phase 2 trial is testing the drug mirdametinib in 40 people aged 2 and older with Langerhans cell histiocytosis or similar disorders. The goal is to see if this oral medication works better and has fewer side effects than current treatments. Participants take the drug twice …
Phase: PHASE2 • Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Disease control
Last updated Jun 26, 2026 18:37 UTC
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500 patients needed to unlock secrets of rare histiocytic disorders
Knowledge-focused Recruiting nowThis study at Mayo Clinic will collect medical histories and blood, fluid, or tissue samples from 500 people with histiocytic disorders. Researchers will analyze these samples for molecular markers like BRAF V600E and PD-L1 to better understand the diseases. The goal is to gather…
Sponsor: Mayo Clinic • Aim: Knowledge-focused
Last updated Aug 06, 2026 00:00 UTC