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

Rare Disease

late infantile neuronal ceroid lipofuscinosis

MONDO:0015674

Also known as:Jansky-Bielschowsky diseaseLINCLlate infantile NCL

Find Clinical TrialsTrials

Overview

A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.

OnsetANTENATAL, JUVENILE

Clinical Trials4 registered · 2 recruiting

Diagnosis

Biomarker and diagnostic research for late infantile neuronal ceroid lipofuscinosis has been reported in the published literature.

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.

4 clinical trials registered, 2 recruiting. Interventions under study include drug therapy, other interventions, and medical devices. Pipeline includes 1 PHASE1. Research is sponsored by a mix of industry and academic institutions.

15 publications have been identified in PubMed for late infantile neuronal ceroid lipofuscinosis. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (20%), and Other (13%).

Research Type	Count	% of Total
Patient case studies	5

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 2:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:168491

GARD

Genetic and Rare Diseases Info Center

GARD:17032

Questions for Your Care Team

→Are any of the 4 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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late infantile neuronal ceroid lipofuscinosis

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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