Niemann-Pick disease, type C2
MONDO:0011873Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.
Also known as: NPC2, Niemann-Pick disease, type C2, type C2 Niemann-Pick disease, Niemann-PICK disease, type C2, Niemann-Pick disease type C2
8 clinical trials for this condition and its sub-types.
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New hope for kids with rare cancers: targeted drug selpercatinib tested in phase 2 trial
Disease control OngoingThis phase 2 trial tests the drug selpercatinib in children and young adults (ages 1 to 21) with advanced cancers that have a specific genetic change called a RET alteration. The goal is to see if the drug can shrink tumors or stop them from growing. Only one participant has been…
Phase: PHASE2 • Sponsor: National Cancer Institute (NCI) • Aim: Disease control
Last updated Aug 05, 2026 00:00 UTC
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Targeted drug shows promise for kids with Tough-to-Treat cancers
Disease control OngoingThis study tested the drug ensartinib in 13 children and young adults (ages 1–21) whose cancers had come back or did not respond to treatment and had specific ALK or ROS1 gene changes. The goal was to see if the drug could shrink or stop tumor growth. While the drug targets cance…
Phase: PHASE2 • Sponsor: National Cancer Institute (NCI) • Aim: Disease control
Last updated Jul 12, 2026 00:00 UTC
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New hope for kids with rare cancers: targeted drug larotrectinib tested in small trial
Disease control OngoingThis phase 2 trial is testing the drug larotrectinib in children and young adults (ages 1 to 21) with advanced solid tumors, non-Hodgkin lymphoma, or histiocytic disorders that have a specific genetic change called an NTRK fusion. The cancers have either come back after treatment…
Phase: PHASE2 • Sponsor: National Cancer Institute (NCI) • Aim: Disease control
Last updated Jun 27, 2026 14:00 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
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Rare disease study probes hidden brain effects
Knowledge-focused OngoingThis study looks at how histiocytosis—a group of rare disorders—may affect memory, thinking, and brain structure. Researchers will test 13 adults with these conditions using thinking tasks and MRI scans. The goal is to better understand brain changes, not to provide treatment.…
Sponsor: Memorial Sloan Kettering Cancer Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:31 UTC