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A ciliopathy caused by biallelic variants in the CEP290 gene.
3 clinical trials registered, 1 recruiting. Interventions under study include drug therapy and other interventions. Pipeline includes 1 PHASE3, 1 PHASE2, 1 PHASE1. Research is primarily industry-sponsored.
17 publications have been identified in PubMed for CEP290-related ciliopathy. Research spans Epidemiology / Natural History (47%), Case Report / Case Series (29%), and Review / Meta-Analysis (12%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 8 |
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 11:56 AM UTC
Common questions about CEP290-related ciliopathy
Patient case studies | 5 | 29% |
Research summaries | 2 | 12% |
Laboratory research | 2 | 12% |
Thiriveedi D (2026). [PMID: 41766136](https://pubmed.ncbi.nlm.nih.gov/41766136/). *Clin Endocrinol (Oxf)*. [Epidemiology / Natural History]
Milheiro J (2026). [PMID: 41940113](https://pubmed.ncbi.nlm.nih.gov/41940113/). *Clin Nephrol Case Stud*. [Case Report / Case Series]
Kapoor D (2026). [PMID: 40576408](https://pubmed.ncbi.nlm.nih.gov/40576408/). *Ann Afr Med*. [Case Report / Case Series]
Hühne T (2026). [PMID: 40903014](https://pubmed.ncbi.nlm.nih.gov/40903014/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]
Murati Calderon RA (2025). [PMID: 40718228](https://pubmed.ncbi.nlm.nih.gov/40718228/). *Cureus*. [Epidemiology / Natural History]
Li K (2025). [PMID: 40801568](https://pubmed.ncbi.nlm.nih.gov/40801568/). *Cells*. [Basic Science / Preclinical]
Reschke F (2025). [PMID: 41133750](https://pubmed.ncbi.nlm.nih.gov/41133750/). *Endocr Connect*. [Review / Meta-Analysis]
Feizabadi MH (2025). [PMID: 38407766](https://pubmed.ncbi.nlm.nih.gov/38407766/). *Biochem Genet*. [Epidemiology / Natural History]
Matsuo K (2025). [PMID: 40632733](https://pubmed.ncbi.nlm.nih.gov/40632733/). *PLoS One*. [Basic Science / Preclinical]
Mifsud F (2025). [PMID: 40897637](https://pubmed.ncbi.nlm.nih.gov/40897637/). *Obesity (Silver Spring)*. [Epidemiology / Natural History]