ORPHA:228354
CLN8 disease
Also known as: NCL8 · Neuronal ceroid lipofuscinosis type 8
Publications
99
Trials
0
Interventional, condition-specific
Researchers
614
Distinct authors in sample
Gene link
CLN8
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare neuronal ceroid lipofuscinosis characterized classically by late -onset (5-10 years) with rapid disease progression, myoclonus, visual loss and (commonly observed within 2-5 years of seizure onset). Spasticity, dystonic posturing, tremors, and other extrapyramidal signs are also reported in these patients. Less frequently, the disease can manifest with intractable tonic-clonic or complex partial without myoclonous, and variable visual deficit, blindness being infrequent. This condition, also known as Northern , is milder and slow progressing compared to the classical form of the disease.
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:0010830
- MeSH:C537952
- OMIM:600143
- UMLS:C1838570
Additional Mondo synonyms (6)
CLN8 · CLN8 neuronal ceroid lipofuscinosis · ceroid lipofuscinosis, neuronal, type 8 · neuronal ceroid lipofuscinosis 8 · neuronal ceroid lipofuscinosis caused by mutation in CLN8 · neuronal ceroid lipofuscinosis type 8
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — CLN8
- LiteraturePresent
99 matched papers (72 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?
Yes — we know a specific gene responsible (CLN8).
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?
99
99 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.
99 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).
72 in the last 10 years · low confidence
Phrase hits: 98 · MeSH hits: 1
Who's working on it?
614
Distinct author names in 99 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 SE8 papers · 2021
Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College, London, United Kingdom. s.mole@ucl.ac.uk
Papers in Europe PMC - 02Weimer JM5 papers · 2025
Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States.
Papers in Europe PMC - 03Booth CD4 papers · 2025
Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States.
Papers in Europe PMC - 04Johnson TB4 papers · 2023
Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States.
Papers in Europe PMC - 05Likhite S4 papers · 2023
The Research Institute at Nationwide Children's Hospital, Columbus, OH, United States.
Papers in Europe PMC - 06
- 07Meyer K4 papers · 2023
The Research Institute at Nationwide Children's Hospital, Columbus, OH, United States.
Papers in Europe PMC - 08Pratt MA4 papers · 2023
Pediatrics and Rare Diseases Group, Sanford Research, Sioux Falls, SD, United States.
Papers in Europe PMC - 09
- 10Schulz A4 papers · 2019
Professor of Pediatrics Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
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. 2 observational studies 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
2 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
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.
"CLN8 disease" OR "Neuronal ceroid lipofuscinosis type 8" OR "CLN8 neuronal ceroid lipofuscinosis" OR "ceroid lipofuscinosis, neuronal, type 8" OR "neuronal ceroid lipofuscinosis 8" OR "neuronal ceroid lipofuscinosis caused by mutation in CLN8"
MeSH descriptor terms unioned into the query: Ceroid lipofuscinosis, neuronal 8
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CLN8 disease" OR "Neuronal ceroid lipofuscinosis type 8" OR "CLN8 neuronal ceroid lipofuscinosis" OR "ceroid lipofuscinosis, neuronal, type 8" OR "neuronal ceroid lipofuscinosis 8" OR "neuronal ceroid lipofuscinosis caused by mutation in CLN8" OR "Ceroid lipofuscinosis, neuronal 8" OR "CLN8"
Recall-expansion terms: CLN8
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: NCL8; CLN8
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T10:08:11.707Z