ORPHA:352709
CLN13 disease
Also known as: Kufs disease type B · NCL13 · Neuronal ceroid lipofuscinosis type 13
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
164
72.6th percentile
Trials
0
Interventional, condition-specific
Researchers
924
Distinct authors in sample
Gene link
CTSF
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare neuronal ceroid lipofuscinosis characterized by adulthood-onset (11-65 years with the mean of 34 years) , cognitive impairment, dementia with behavioral, neuropsychiatric, and movement disturbances. Facial dyskinesia and myoclonus are commonly observed. Unspecified motor speech problems and akinetic mutism are also reported in some patients.
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:0014147
- OMIM:615362
- UMLS:C3715049
Additional Mondo synonyms (6)
CLN13 · CTSF neuronal ceroid lipofuscinosis · ceroid lipofuscinosis, neuronal, 13 (Kufs type) · ceroid lipofuscinosis, neuronal, type 13 · neuronal ceroid lipofuscinosis caused by mutation in CTSF · neuronal ceroid lipofuscinosis type 13
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 — CTSF
- LiteraturePresent
164 matched papers (141 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 (CTSF).
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?
164
164 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.
164 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).
141 in the last 10 years · medium confidence · 72.6th percentile (publications denominator)
Phrase hits: 164 · MeSH hits: 0
Who's working on it?
924
Distinct author names in 164 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.
- 01Huber RJ11 papers · 2022
Department of Biology, Trent University, Life & Health Sciences Building, 1600 West Bank Drive, Peterborough, Ontario K9L 0G2, Canada.
Papers in Europe PMC - 02Mole SE9 papers · 2025
MRC Laboratory for Molecular Cell Biology, Department of Genetics, Evolution and Environment & UCL GOSH Institute of Child Health, University College London, London WC1E 6BT, UK.
Papers in Europe PMC - 03Mathavarajah S5 papers · 2021
Trent University, Department of Biology, 1600 West Bank Drive, Peterborough, Ontario K9L 0G2, Canada. Electronic address: smathavarajah@trentu.ca.
Papers in Europe PMC - 04Storch S5 papers · 2022
Section Biochemistry, Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Papers in Europe PMC - 05Cooper JD4 papers · 2025
Pediatric Storage Disorders Laboratory, Department of Pediatrics, School of Medicine, Washington University in St. Louis, St. Louis, MO, United States.
Papers in Europe PMC - 06Cotman SL4 papers · 2022
Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, 185 Cambridge St, Boston, MA 02114, USA. cotman@helix.mgh.harvard.edu
Papers in Europe PMC - 07
- 08Bartsch U3 papers · 2026
Department of Ophthalmology, Experimental Ophthalmology, University Medical Center Eppendorf, Martinistr. 52, 20246, Hamburg, Germany.
Papers in Europe PMC - 09Gissen P3 papers · 2025
Inborn Errors of Metabolism Section, Genetics & Genomic Medicine Unit, Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK.
Papers in Europe PMC - 10Kim WD3 papers · 2022
Environmental and Life Sciences Graduate Program, Trent University, Peterborough, ON, Canada.
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.
medium 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 2026-07-26Likely 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.
"CLN13 disease" OR "Kufs disease type B" OR "NCL13" OR "Neuronal ceroid lipofuscinosis type 13" OR "CLN13" OR "CTSF neuronal ceroid lipofuscinosis" OR "ceroid lipofuscinosis, neuronal, 13 (Kufs type)" OR "ceroid lipofuscinosis, neuronal, type 13" OR "neuronal ceroid lipofuscinosis caused by mutation in CTSF"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CLN13 disease" OR "Kufs disease type B" OR "NCL13" OR "Neuronal ceroid lipofuscinosis type 13" OR "CLN13" OR "CTSF neuronal ceroid lipofuscinosis" OR "ceroid lipofuscinosis, neuronal, 13 (Kufs type)" OR "ceroid lipofuscinosis, neuronal, type 13" OR "neuronal ceroid lipofuscinosis caused by mutation in CTSF" OR "CTSF"
Recall-expansion terms: CTSF
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T14:18:36.607Z