ORPHA:228360
CLN5 disease
Also known as: NCL5 · Neuronal ceroid lipofuscinosis type 5
Publications
110
Trials
1
Interventional, condition-specific
Researchers
613
Distinct authors in sample
Gene link
CLN5
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare neuronal ceroid lipofuscinosis characterized by developmental and motor delay/regression, psychomotor and cognitive regression, , , and visual impairment. It may present classically with late -onset, however juvenile or adult-onset has been also described. Patients with late onset have early language and learning impairment whereas loss of vision and appear later. In juvenile onset patients, disease may progress rapidly (not commonly observed); notably vision loss and inability to walk is usually occur within 1 year of the initiation of the symptoms. can be absent. In the adult onset patients first symptoms become evident around 20 years of age.
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:0009745
- MeSH:C575534
- OMIM:256731
- UMLS:C1850442
Additional Mondo synonyms (5)
CLN5 · CLN5 neuronal ceroid lipofuscinosis · ceroid lipofuscinosis, neuronal, type 5 · neuronal ceroid lipofuscinosis caused by mutation in CLN5 · neuronal ceroid lipofuscinosis type 5
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 — CLN5
- LiteraturePresent
110 matched papers (88 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
1 matched on ClinicalTrials.gov
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 (CLN5).
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?
110
110 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.
110 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).
88 in the last 10 years · low confidence
Phrase hits: 110 · MeSH hits: 1
Who's working on it?
613
Distinct author names in 110 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.
- 01Huber RJ11 papers · 2026
Department of Biology, Trent University, Peterborough, ON K9L 0G2, Canada.
Papers in Europe PMC - 02Mole SE11 papers · 2026
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 - 03Mitchell NL10 papers · 2025
Department of Molecular Biosciences, Faculty of Agricultural and Life Sciences, Lincoln University, Lincoln 7647, New Zealand, and.
Papers in Europe PMC - 04Palmer DN7 papers · 2025
Department of Molecular Biosciences, Faculty of Agricultural and Life Sciences, Lincoln University, Lincoln 7647, New Zealand, and.
Papers in Europe PMC - 05Santorelli FM7 papers · 2025
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
Papers in Europe PMC - 06Kanninen KM6 papers · 2022
A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland. katja.kanninen@uef.fi.
Papers in Europe PMC - 07Murray SJ6 papers · 2025
Faculty of Agriculture and Life Sciences, Lincoln University, Canterbury, New Zealand.
Papers in Europe PMC - 08Storch S6 papers · 2022
Biochemistry, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Papers in Europe PMC - 09Blom T5 papers · 2017
Department of Anatomy, Faculty of Medicine, University of Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland. tomas.blom@helsinki.fi.
Papers in Europe PMC - 10Kim WD5 papers · 2026
Environmental and Life Sciences Graduate Program, Trent University, Peterborough, ON, Canada.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
3 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.
"CLN5 disease" OR "Neuronal ceroid lipofuscinosis type 5" OR "CLN5 neuronal ceroid lipofuscinosis" OR "ceroid lipofuscinosis, neuronal, type 5" OR "neuronal ceroid lipofuscinosis caused by mutation in CLN5"
MeSH descriptor terms unioned into the query: Ceroid lipofuscinosis, neuronal 5
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CLN5 disease" OR "Neuronal ceroid lipofuscinosis type 5" OR "CLN5 neuronal ceroid lipofuscinosis" OR "ceroid lipofuscinosis, neuronal, type 5" OR "neuronal ceroid lipofuscinosis caused by mutation in CLN5" OR "Ceroid lipofuscinosis, neuronal 5" OR "CLN5"
Recall-expansion terms: CLN5
Interventional trials matched via: 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: 1 interventional · 3 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: NCL5; CLN5
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 2026-07-27T10:08:21.184Z