ORPHA:228329
CLN1 disease
Also known as: Neuronal ceroid lipofuscinosis type 1 · NCL1
Publications
4,296
Trials
0
Interventional, condition-specific
Researchers
1,273
Distinct authors in sample
Gene link
PPT1
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare neuronal ceroid lipofuscinosis characterized by , psychomotor regression, , , , movement disorders and visual impairment. It may present classically with -onset (6-18 months) however late (18 months-4 years), juvenile (4 years-early adolescence) or adult-onset (mid 20s-mid 30s) have also been described. Disease progression is rapid in both /late onset patients, manifesting with and rapid loss of speech, early cognitive and motor decline, impaired gait function, myoclonus, vision loss (observed bit later in late form) and brain atrophy. form is characterized by a short lifespan preceeded by a relatively long steady progression following the rapid decline. Disease progression is slow in juvenile-onset and protracted in adult-onset patients. Psychosis in juvenile-onset patients, depression and parkinsonism in adult-onset patients are reported in addition to the common clinical symptoms.
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:0009744
- OMIM:214200
- OMIM:256730
- UMLS:C1850451
- NCIT:C85861
Additional Mondo synonyms (11)
CLN1 · CLN1 variable age at onset · PPT1 neuronal ceroid lipofuscinosis · ceroid lipofuscinosis neuronal 1 · ceroid lipofuscinosis, neuronal, 1 · ceroid lipofuscinosis, neuronal, 1, variable Age at onset · ceroid lipofuscinosis, neuronal, type 1 · ceroid storage disease · neuronal ceroid lipofuscinosis 1 · neuronal ceroid lipofuscinosis caused by mutation in PPT1 · neuronal ceroid lipofuscinosis type 1
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.”
4/6 stages with a signal
No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.
- Gene identifiedPresent
Definitive — PPT1
- LiteraturePresent
4,296 matched papers (2,262 in last 10 years) Source
- Phenotype characterisedPresent
32 HPO annotations (e.g. Hypotonia; Sleep disturbance; Reduced tissue palmitoyl-protein thioesterase activity) Source
- Animal modelPresent
3 genotype models (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (PPT1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
32
Associated phenotypes · MONDO:0009744
- Hypotonia
- Sleep disturbance
- Reduced tissue palmitoyl-protein thioesterase activity
- Abnormality of metabolism/homeostasis
- Psychomotor deterioration
Showing 5 of 32 — open Monarch for the full list.
Animal models (Monarch / Alliance)
3
Model associations linked to this Mondo ID
- Ppt1tm1Hof/Ppt1tm1Hof [background:] involves: 129P2/OlaHsd * 129S2/SvPas * 129S6/SvEvTac * C57BL/6·MGI:5296508·Mus musculus
- Ppt1tm1.1Dprc/Ppt1tm1.1Dprc [background:] involves: 129S6/SvEvTac * BALB/cJ * C57BL/6·MGI:5585410·Mus musculus
- Ppt1tm1Aj/Ppt1tm1Aj [background:] involves: 129S4/SvJae * C57BL/6·MGI:3527906·Mus musculus
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
4,296
4,296 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
4,296 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
2,262 in the last 10 years · low confidence
Phrase hits: 318 · MeSH hits: 0
Who's working on it?
1,273
Distinct author names in 200 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.
- 01
- 02
- 03
- 04
- 05
- 06Groh J7 papers · 2021
Neurology, University Hospital Wuerzburg, Wuerzburg, Germany.
Papers in Europe PMC - 07Mukherjee AB7 papers · 2025
Section on Developmental Genetics, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.
Papers in Europe PMC - 08
- 09Wishart TM7 papers · 2025
The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush, Midlothian, UK.
Papers in Europe PMC - 10Appu AP6 papers · 2025
Section on Developmental Genetics, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, 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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th 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
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for CLN1 disease — check Associations / patient organisations on that page.
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.
("CLN1 disease" OR "Neuronal ceroid lipofuscinosis type 1" OR "CLN1 variable age at onset" OR "PPT1 neuronal ceroid lipofuscinosis" OR "ceroid lipofuscinosis neuronal 1" OR "ceroid lipofuscinosis, neuronal, 1" OR "ceroid lipofuscinosis, neuronal, 1, variable Age at onset" OR "ceroid lipofuscinosis, neuronal, type 1" OR "ceroid storage disease" OR "neuronal ceroid lipofuscinosis 1" OR "neuronal ceroid lipofuscinosis caused by mutation in PPT1") OR ("PPT1" OR "PPT1 syndrome" OR "PPT1-related" OR "CLN1" OR "CLN1 syndrome" OR "CLN1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"CLN1 disease" OR "Neuronal ceroid lipofuscinosis type 1" OR "CLN1 variable age at onset" OR "PPT1 neuronal ceroid lipofuscinosis" OR "ceroid lipofuscinosis neuronal 1" OR "ceroid lipofuscinosis, neuronal, 1" OR "ceroid lipofuscinosis, neuronal, 1, variable Age at onset" OR "ceroid lipofuscinosis, neuronal, type 1" OR "ceroid storage disease" OR "neuronal ceroid lipofuscinosis 1" OR "neuronal ceroid lipofuscinosis caused by mutation in PPT1"
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: NCL1; CLN1
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
- Publication count (4296) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T10:07:12.011Z