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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Experimental gene therapy aims to fix cystinosis at the source
Disease control CompletedThis early-phase trial tested a gene therapy for cystinosis, a rare genetic disorder that causes cystine crystals to build up in cells, damaging organs. Researchers took blood stem cells from 6 patients, added a working copy of the faulty gene, and infused the corrected cells bac…
Phase: PHASE1, PHASE2 • Sponsor: University of California, San Diego • Aim: Disease control
Last updated Aug 08, 2026 00:03 UTC
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Scientists investigate why cystinosis affects skin color
Knowledge-focused CompletedThis study looked at 30 people with cystinosis, a rare disease that causes crystals to build up in the body. Researchers wanted to understand why some patients have lighter skin patches and how this relates to the disease. They studied genetic and skin samples to find the molecul…
Phase: NA • Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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Cystinosis study probes medication adherence and brain risks
Knowledge-focused CompletedThis study looked at 65 people with cystinosis to see how well they take their cysteamine medicine and how that relates to brain problems. Researchers measured medicine use with special bottle caps and diaries, and checked for cystine buildup in the brain using scans and spinal t…
Phase: NA • Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:05 UTC
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Rare disease study maps muscle decline in cystinosis patients
Knowledge-focused CompletedThis study looked at how cystinosis affects muscles, breathing, and swallowing in 20 teenagers and adults. Researchers measured motor function, strength, and walking ability over time. The goal was to better understand the disease's impact on the body, not to test a new treatment…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:59 UTC