Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

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

Rare Disease

infantile neuronal ceroid lipofuscinosis

MONDO:0019261

Also known as:Classic Infantile CLN1 DiseaseHagberg-Santavuori diseaseINCL

Find Clinical TrialsTrials

Overview

A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.

TreatmentsNo approved treatments · 1 in pipeline

Clinical Trials3 registered · 1 recruiting

Diagnosis

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

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for infantile neuronal ceroid lipofuscinosis. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for infantile neuronal ceroid lipofuscinosis, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for infantile neuronal ceroid lipofuscinosis. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

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.

3 clinical trials registered, 1 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.

139 publications have been identified in PubMed for infantile neuronal ceroid lipofuscinosis. Research spans Basic Science / Preclinical (37%), Case Report / Case Series (14%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Laboratory research	52

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79263

GARD

Genetic and Rare Diseases Info Center

GARD:9447

Questions for Your Care Team

→Are any of the 3 active clinical trials a good fit for my situation?
→What is the current development status of N-t-butylhydroxylamine, and when might it become available?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

infantile neuronal ceroid lipofuscinosis

Overview

Diagnosis

Treatment

Orphan Drug Designations

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Trials

Recent Publications