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, 12 tagged with Cystinosis itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Cystinosis
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Nephropathic cystinosis 4 trials
2 sub-types
- Juvenile nephropathic cystinosis 0 trials
- Nephropathic infantile cystinosis 0 trials
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Ocular cystinosis 0 trials
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A simple brush could spot mouth cancer early in fanconi anaemia patients
Diagnosis Not yet recruitingPeople with Fanconi anaemia have a high risk of developing oral cancer, but standard biopsies are painful and risky due to their genetic sensitivity. This study tests a non-invasive oral brushing technique to detect early cancer cells in 115 patients aged 15 and older. If accurat…
Sponsor: Institut Jean-Godinot • Aim: Diagnosis
Last updated Jun 27, 2026 07:58 UTC
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Scientists launch Largest-Ever study to unravel Cystinosis's Long-Term effects
Knowledge-focused Not yet recruitingThis study follows 250 people with cystinosis, a rare genetic disorder that causes a buildup of the amino acid cystine, leading to damage in the kidneys, eyes, and other organs. Researchers will track how the disease progresses over time, including kidney function, eye problems, …
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Sep 19, 2026 00:00 UTC