Cystinosis
MONDO:0016239Cystinosis is a metabolic disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular.
Also known as: Protein defect of cystin transport, cystine storage disease, cystinosis, Cystinoses, cystine diathesis, cystine disease
12 clinical trials for this condition and its sub-types.
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Broader categories
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New cystinosis drug shows promise in early trial
Disease control OngoingThis study tests a new oral solution called NPI-001 in people with cystinosis, a rare disease that causes cystine buildup in cells. Researchers want to see if NPI-001 is safe and works better than the current drug cysteamine. About 12 participants aged 10 and older will stop thei…
Phase: PHASE1, PHASE2 • Sponsor: Nacuity Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jul 02, 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