ORPHA:228346
CLN3 disease
Also known as: Neuronal ceroid lipofuscinosis type 3
Publications
405
Trials
4
Interventional, condition-specific
Researchers
940
Distinct authors in sample
Gene link
CLN3
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare neuronal ceroid lipofuscinosis characterized by juvenile or protracted juvenile-onset vision loss due to retinal degeneration/retinopathy (which in several patients may precede the onset of neurological symptoms by some years), , cognitive impairment with a precipitous decline to dementia, motor decline with cerebellar, pyramidal and extrapyramidal features. Associated systemic features may include cardiac abnormalities (including conduction abnormalities, ventricular hypertrophy, atrial flutter/fibrillation and symptomatic bradycardia) and autophagic vacuolar . in juvenile-onset (also known as the classic form of the disease) patients, develop typically within 2-4 years of the onset of visual deterioration. In protracted form, characterized by combined focal and generalized syndrome and neurologic deterioration, and other neurological manifestations appear significantly later compared to classic form and symptoms are milder. This is the most common form of ceroid lipofuscinosis and is widespread across Western countries.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008767
- OMIM:204200
- UMLS:C0751383
- NCIT:C61258
Additional Mondo synonyms (7)
CLN3 · CLN3 neuronal ceroid lipofuscinosis · Juvenile CLN3 Disease · ceroid lipofuscinosis, neuronal, type 3 · neuronal ceroid lipofuscinosis 3 · neuronal ceroid lipofuscinosis caused by mutation in CLN3 · neuronal ceroid lipofuscinosis type 3
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — CLN3
- LiteraturePresent
405 matched papers (331 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
4 matched on ClinicalTrials.gov (1 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (CLN3).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
405
405 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
405 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
331 in the last 10 years · low confidence
Phrase hits: 405 · MeSH hits: 0
Who's working on it?
940
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Schulz A17 papers · 2026
Department of Paediatrics Universitätsklinikum Hamburg-Eppendorf Hamburg Germany.
Papers in Europe PMC - 02Adams HR14 papers · 2026
Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
Papers in Europe PMC - 03Augustine EF14 papers · 2026
Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
Papers in Europe PMC - 04
- 05Mink JW13 papers · 2026
Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
Papers in Europe PMC - 06Mole SE13 papers · 2026
MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom.
Papers in Europe PMC - 07Cooper JD10 papers · 2026
Pediatric Storage Disorders Laboratory, Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology & Neuroscience, King's College London, 5 Cutcombe Road, London, SE5 9RX, United Kingdom.
Papers in Europe PMC - 08van Hasselt PM9 papers · 2024
Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, P.O. Box 85090, 3508, AB, Utrecht, the Netherlands. p.vanhasselt@umcutrecht.nl.
Papers in Europe PMC - 09Dang Do AN8 papers · 2026
Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD, USA. an.dangdo@nih.gov.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
4
interventional trials for this specific condition
4 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).
low confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
4 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT04637282·NOT YET RECRUITING·Safety, Tolerability, and Efficacy of PLX-200 in Patients With CLN3
Conditions: Juvenile Neuronal Ceroid Lipofuscinosis·Matched via recall expansion
Observational and natural-history studies
4 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT04613089·RECRUITING·Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database
Conditions: Neuronal Ceroid Lipofuscinosis · Batten Disease · CLN1 Disease · CLN2 Disease·Matched via name phrase
- NCT01873924·RECRUITING·Clinical and Neuropsychological Investigations in Batten Disease
Conditions: Neuronal Ceroid Lipofuscinosis · Neuronal Ceroid Lipofuscinosis CLN1 · Neuronal Ceroid Lipofuscinosis CLN2 · Neuronal Ceroid Lipofuscinosis CLN3·Matched via recall expansion
- NCT03307304·RECRUITING·Investigations of Juvenile Neuronal Ceroid Lipofuscinosis
Conditions: Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) · Batten Disease·Matched via recall expansion
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26Likely covered — the policy lists Neuronal ceroid lipofuscinosis as a category (Group 3), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 3 — high-cost / lifelong therapy with careful selection
Up to ₹50 lakh per patient
Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.
Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"CLN3 disease" OR "Neuronal ceroid lipofuscinosis type 3" OR "CLN3 neuronal ceroid lipofuscinosis" OR "Juvenile CLN3 Disease" OR "ceroid lipofuscinosis, neuronal, type 3" OR "neuronal ceroid lipofuscinosis 3" OR "neuronal ceroid lipofuscinosis caused by mutation in CLN3"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CLN3 disease" OR "Neuronal ceroid lipofuscinosis type 3" OR "CLN3 neuronal ceroid lipofuscinosis" OR "Juvenile CLN3 Disease" OR "ceroid lipofuscinosis, neuronal, type 3" OR "neuronal ceroid lipofuscinosis 3" OR "neuronal ceroid lipofuscinosis caused by mutation in CLN3" OR "CLN3"
Recall-expansion terms: CLN3
Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 4 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: CLN3
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- "Juvenile CLN3 Disease" also appears on ORPHA:699780
Ingested 2026-07-27T10:07:50.539Z