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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Cystinosis drug under Long-Term watch: could cysteamine be key?
Disease control Recruiting nowCystinosis is a rare inherited disease that causes kidney failure and poor growth due to cystine buildup in cells. This study follows 330 patients taking cysteamine, a drug that lowers cystine levels, to track long-term effects, detect new complications, and support genetic resea…
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Disease control
Last updated Aug 18, 2026 04:00 UTC
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Gene therapy may free kids from daily cystinosis meds
Disease control Recruiting nowThis study tests a gene therapy called DFT383 in 30 children aged 2 to 5 with nephropathic cystinosis, a rare disease that damages kidneys and other organs. The treatment aims to fix the genetic problem so children may no longer need daily cysteamine medication. Researchers will …
Phase: PHASE1, PHASE2 • Sponsor: Novartis Pharmaceuticals • Aim: Disease control
Last updated Aug 02, 2026 00:00 UTC
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Scientists investigate why cystinosis causes early aging
Knowledge-focused Recruiting nowThis study looks at how energy production inside cells (mitochondria) works in people with cystinosis, a rare disease that causes cystine buildup and early aging. Researchers will measure cell energy activity in 25 patients and compare it to healthy people. The goal is to underst…
Phase: NA • Sponsor: Hospices Civils de Lyon • Aim: Knowledge-focused
Last updated Aug 05, 2026 00:00 UTC
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Rare disease database aims to boost cystinosis care across europe
Knowledge-focused Recruiting nowThis European study will follow 400 people with cystinosis, a rare genetic disease that causes cystine buildup in cells. Researchers will collect medical and quality-of-life data to understand how the disease progresses and how care can be improved. The study does not test any ne…
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jul 09, 2026 00:00 UTC