Cystinosis — Research Summary
Printed from RareWays (rareways.com.au) on 11 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Birth characteristics and growth outcome in children with nephropathic cystinosis compared with other chronic kidney disease entities prior to kidney replacement therapy.
Schirmer Katharina et al. — Pediatric nephrology (Berlin, Germany) (9 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42714584/
- 2.
Urinary YKL-40 as a diagnostic biomarker for cystinosis.
Greenberg Jason H et al. — JCI insight (8 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42708361/
- 3.
Cystinosis-associated metabolic bone disease: pathogenesis and outcome.
Schön Anne et al. — Pediatric nephrology (Berlin, Germany) (4 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42697975/
- 4.
Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis.
Hohenfellner Katharina et al. — Nature reviews. Nephrology (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42298212/
- 5.
Cystinosin/Ers1 functions in redox homeostasis in the early secretory pathway.
Zhu Julia et al. — Molecular biology of the cell (26 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42647159/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Recruiting — Sanford Health
https://clinicaltrials.gov/study/NCT01793168
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
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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.
Most Recent Research
BACKGROUND: Infantile nephropathic cystinosis (INC) is characterized by progressive short stature and low body fat. Although birth size is typically normal, early growth data are limited. METHODS: In this prospective multicenter observational study, 77 conservatively treated children with INC and 527 congenital and hereditary CKD controls, stages 1-5, were analyzed. We investigated birth characteristics and linear body growth (length/stature), weight, and head circumference from birth up to 18 years. Linear mixed-effects models were applied to identify pre- and postnatal predictors of statural growth. RESULTS: Newborns with INC exhibited normal birth morphology, whereas CKD controls showed significantly reduced, disproportionate characteristics (each p < 0.01). Despite preserved birth morphology, born small for gestational age prevalence in INC was nearly twofold higher than in the general population, and CKD peers had an approximately 1.7 times higher prevalence than INC (p < 0.05). In INC, a weight-length dissociation emerged at approximately 6 months of age, followed by marked impairments in both characteristics within the first 2 years, persisting into adulthood. CKD peers showed only mild further decline and more favorable long-term growth. Statural growth in INC was associated with biochemical features of Fanconi syndrome and with birth weight in adolescence, whereas in CKD, birth weight remained the only consistent predictor. CONCLUSIONS: In INC, growth deterioration begins around 6 months with weight-length dissociation and progresses to sustained deficits in stature and weight. This pattern resembles early postnatal disturbances that durably constrain somatic development and are driven more by disease-specific disturbances than by reduced glomerular filtration.
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.