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congenital neuronal ceroid lipofuscinosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital neuronal ceroid lipofuscinosis

MONDO:0850001

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Overview

Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.

Clinical Trials2 registered · 2 recruiting

ResearchLimited published research (3 articles)

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

3 publications have been identified in PubMed for congenital neuronal ceroid lipofuscinosis. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Zhao JQ (2025). [PMID: 39284877](https://pubmed.ncbi.nlm.nih.gov/39284877/). *Acta Pharmacol Sin*. [Basic Science / Preclinical]
Çiçek S (2024). [PMID: 39656415](https://pubmed.ncbi.nlm.nih.gov/39656415/). *Cerebellum*. [Review / Meta-Analysis]
Baltar F (2024). [PMID: 38751748](https://pubmed.ncbi.nlm.nih.gov/38751748/). *Front Pediatr*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:168486

GARD

Genetic and Rare Diseases Info Center

GARD:17031

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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congenital neuronal ceroid lipofuscinosis

Overview

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team