ICD E72.0ORPHA:213

Cystinosis

Cystinosis is a rare inherited condition in which the amino acid cystine builds up inside cells, caused by changes in the CTNS gene. The kidneys and eyes are most often affected, and over time the muscles, thyroid, liver and other organs can be involved. Treatment includes cysteamine medicine to lower cystine levels, eye drops for the cornea, replacement of lost salts and fluids, and kidney care.

337
Articles
36
Trials (2 AU)
Updated
11 September 2026
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Common Questions

What is Cystinosis?

Cystinosis is a rare inherited condition in which the amino acid cystine builds up inside cells, caused by changes in the CTNS gene. The kidneys and eyes are most often affected, and over time the muscles, thyroid, liver and other organs can be involved. Treatment includes cysteamine medicine to lower cystine levels, eye drops for the cornea, replacement of lost salts and fluids, and kidney care.

How many clinical trials are available for Cystinosis?

RareWays currently indexes 36 clinical trials for Cystinosis, of which 8 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.

Where does the research data for Cystinosis come from?

RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.

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This information is for general awareness only.

For guidance specific to your situation, please speak with your healthcare team.