ORPHA:228363
CLN6 disease
Also known as: NCL6 · Neuronal ceroid lipofuscinosis type 6
Publications
123
Trials
0
Interventional, condition-specific
Researchers
684
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare neuronal ceroid lipofuscinosis characterized by developmental and motor regression, , , , delayed global development, speech and language, spasticity, and . Visual impairment is not always present. It may present with late (5-7 years), juvenile (4-8 years) or adult-onset (30 years). myoclonus , with myoclonic and tonic-clonic , limb weakness, dysarthria are mainly associated with the adult-onset form of the disease and these patients commonly have photosensitivity (sometimes extreme) whereas vision loss is infrequent.
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.
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
123 matched papers (93 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
123
123 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.
123 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).
93 in the last 10 years · low confidence
Phrase hits: 123 · MeSH hits: 0
Who's working on it?
684
Distinct author names in 123 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Mole SE13 papers · 2024
Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, London WC1E 6JJ, UK. s.mole@ucl.ac.uk
Papers in Europe PMC - 02Mitchell NL9 papers · 2023
Department of Molecular Biosciences, Faculty of Agriculture and Life Sciences and Batten Animal Research Network, Lincoln University, Lincoln, New Zealand.
Papers in Europe PMC - 03Palmer DN9 papers · 2023
Department of Molecular Biosciences, Faculty of Agriculture and Life Sciences and Batten Animal Research Network, Lincoln University, Lincoln, New Zealand.
Papers in Europe PMC - 04Weimer JM8 papers · 2023
Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA; Amicus Therapeutics, Philadelphia, PA, USA. Electronic address: jill.weimer@sanfordhealth.org.
Papers in Europe PMC - 05Murray SJ7 papers · 2023
Faculty of Agriculture and Life Sciences, Lincoln University, Canterbury, New Zealand.
Papers in Europe PMC - 06Bartsch U6 papers · 2023
Department of Ophthalmology, Experimental Ophthalmology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Papers in Europe PMC - 07Johnson TB6 papers · 2023
Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA; Amicus Therapeutics, Philadelphia, PA, USA.
Papers in Europe PMC - 08Kanninen KM6 papers · 2017
A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, 70211 Kuopio, Finland Jari.Koistinaho@uef.fi Katja.Kanninen@uef.fi.
Papers in Europe PMC - 09White AR6 papers · 2017
Cell and Molecular Biology, QIMR Berghofer Medical Research Institute, Herston 4006, Australia.
Papers in Europe PMC - 10White KA6 papers · 2023
Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches 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
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 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
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.
"CLN6 disease" OR "Neuronal ceroid lipofuscinosis type 6"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CLN6 disease" OR "Neuronal ceroid lipofuscinosis type 6"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: NCL6
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T10:08:29.626Z