RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Cystinosis: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Quantifying Corneal Crystal Deposition Patterns In Ocular Cystinosis Using Densitometry
Ms Jennifer Kim et al., ESCRS Abstracts (10 October 2026)
https://doi.org/10.82333/3ejn-nw87
- 2.
Quantifying Corneal Crystal Deposition Patterns In Ocular Cystinosis Using Densitometry
Ms Jennifer Kim et al., ESCRS Abstracts (10 October 2026)
https://doi.org/10.82333/hn65-nk76
- 3.
Ocular Manifestations Of Cystinosis
Béchir Jelliti et al., ESCRS Abstracts (9 October 2026)
https://doi.org/10.82333/87ys-j615
- 4.
Masked Fanconi syndrome: a rare presentation of cystinosis with early-onset hypothyroidism and metabolic alkalosis.
Bhriguvanshi Arpita et al., BMJ case reports (8 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42849982/
- 5.
An Update on Nephropathic Cystinosis for the General Pediatrician
Vanessa Masson et al., Current Pediatrics Reports (28 September 2026)
https://doi.org/10.1007/s40124-026-00392-y
Clinical Trials : Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials. Each has its ID and full eligibility criteria at the link shown.
- 1.
PK and PD Study of NPI-001 and Cysteamine Bitartrate
NCT05994534 · Completed · Phase 1 / Phase 2 · Nacuity Pharmaceuticals, Inc.
Ages 10 and over
https://clinicaltrials.gov/study/NCT05994534
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
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.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
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 23 clinical trials for Cystinosis, of which 3 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Cystinosis come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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