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Nephropathic infantile cystinosis is the most common and severe form of cystinosis, a metabolic disease characterized by an accumulation of cystine inside the lysosomes that causes damage in different organs and tissues, particularly in the kidneys and eyes.
Biomarker and diagnostic research for nephropathic infantile cystinosis has been reported in the published literature.
Estimated prevalence: Unknown (Unknown prevalence).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
105 publications have been identified in PubMed for nephropathic infantile cystinosis. Research spans Review / Meta-Analysis (26%), Basic Science / Preclinical (26%), and Epidemiology / Natural History (15%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 27 | 26% |
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC
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European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
27 |
26% |
Disease patterns and progression | 16 | 15% |
Patient case studies | 15 | 14% |
Testing and diagnosis research | 7 | 7% |
Clinical study results | 5 | 5% |
New treatment approaches | 5 | 5% |
Other research | 3 | 3% |
Wald M (2026). [PMID: 41783883](https://pubmed.ncbi.nlm.nih.gov/41783883/). *Cureus*. [Case Report / Case Series]
Bakker ED (2026). [PMID: 42154048](https://pubmed.ncbi.nlm.nih.gov/42154048/). *Pediatr Nephrol*. [Basic Science / Preclinical]
Ciriaci N (2026). [PMID: 38900412](https://pubmed.ncbi.nlm.nih.gov/38900412/). *Hepatology*. [Review / Meta-Analysis]
De Leo E (2026). [PMID: 41751789](https://pubmed.ncbi.nlm.nih.gov/41751789/). *Int J Mol Sci*. [Gene Therapy / Novel Therapeutics]
Sharma L (2026). [PMID: 39383294](https://pubmed.ncbi.nlm.nih.gov/39383294/). *Unknown Journal*. [Review / Meta-Analysis]
Arnous W (2026). [PMID: 40791101](https://pubmed.ncbi.nlm.nih.gov/40791101/). *Int J Surg Pathol*. [Review / Meta-Analysis]
Bellomo F (2026). [PMID: 41596280](https://pubmed.ncbi.nlm.nih.gov/41596280/). *Int J Mol Sci*. [Review / Meta-Analysis]
Caliment A (2026). [PMID: 42202331](https://pubmed.ncbi.nlm.nih.gov/42202331/). *N Engl J Med*. [Other]
Zhu J (2026). [PMID: 41867835](https://pubmed.ncbi.nlm.nih.gov/41867835/). *bioRxiv*. [Epidemiology / Natural History]
Devuyst O (2026). [PMID: 41707144](https://pubmed.ncbi.nlm.nih.gov/41707144/). *N Engl J Med*. [Other]
AI-curated news mentioning nephropathic infantile cystinosis
Updated Sep 4, 2026
A new study explores the pathogenesis and outcomes of metabolic bone disease associated with cystinosis. This research provides insights that could inform future therapeutic strategies for affected patients.
A recent study published in PubMed highlights the long-term outcomes of renal transplantation in patients with cystinosis. The findings provide valuable insights into the effectiveness of transplantation for this rare disease.
The NHS has approved the routine use of delayed-release mercaptamine for treating cystinosis. This decision enhances treatment options for patients suffering from this rare metabolic disorder.
The NHS has approved a delayed-release treatment for cystinosis, expanding options for eligible patients. This decision enhances the therapeutic landscape for managing this rare condition.
New clinical practice recommendations have been published for the diagnosis and management of nephropathic cystinosis. These guidelines aim to improve patient outcomes through standardized care practices.