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ORPHA:228346

CLN3 disease

low confidenceDisorder

Also known as: Neuronal ceroid lipofuscinosis type 3

Publications

4,528

Trials

1

Interventional, condition-specific

Researchers

940

Distinct authors in sample

Gene link

CLN3

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare neuronal ceroid lipofuscinosis characterized by juvenile or protracted juvenile-onset vision loss due to retinal degeneration/retinopathy (which in several patients may precede the onset of neurological symptoms by some years), , cognitive impairment with a precipitous decline to dementia, motor decline with cerebellar, pyramidal and extrapyramidal features. Associated systemic features may include cardiac abnormalities (including conduction abnormalities, ventricular hypertrophy, atrial flutter/fibrillation and symptomatic bradycardia) and autophagic vacuolar . in juvenile-onset (also known as the classic form of the disease) patients, develop typically within 2-4 years of the onset of visual deterioration. In protracted form, characterized by combined focal and generalized syndrome and neurologic deterioration, and other neurological manifestations appear significantly later compared to classic form and symptoms are milder. This is the most common form of ceroid lipofuscinosis and is widespread across Western countries.

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (7)

CLN3 · CLN3 neuronal ceroid lipofuscinosis · Juvenile CLN3 Disease · ceroid lipofuscinosis, neuronal, type 3 · neuronal ceroid lipofuscinosis 3 · neuronal ceroid lipofuscinosis caused by mutation in CLN3 · neuronal ceroid lipofuscinosis type 3

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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — CLN3

  2. LiteraturePresent

    4,528 matched papers (2,209 in last 10 years) Source

  3. Phenotype characterisedPresent

    30 HPO annotations (e.g. Cataract; Anxiety; Rod-cone dystrophy) Source

  4. Animal modelPresent

    12 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPresent

    3 FDA designations (3 FDA orphan-indication approvals) — e.g. miglustat Source

  6. 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 (CLN3).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

30

Associated phenotypes · MONDO:0008767

  • Cataract
  • Anxiety
  • Rod-cone dystrophy
  • Loss of ambulation
  • Bilateral tonic-clonic seizure

Showing 5 of 30 — open Monarch for the full list.

Animal models (Monarch / Alliance)

12

Model associations linked to this Mondo ID

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)

3

Designations · 3 with FDA orphan-indication approval

  • FDA miglustatBatten Disease · 2021-01-19 · Not FDA Approved for Orphan Indication
  • FDA TrehaloseBatten Disease · 2020-10-21 · Not FDA Approved for Orphan Indication
  • FDA cysteamineneuronal ceroid lipofuscinoses Batten Disease · 2008-08-06 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

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?

4,528

4,528 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.

4,528 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).

2,209 in the last 10 years · low confidence

Phrase hits: 405 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

940

Distinct author names in 200 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.

  1. 01
    Schulz A17 papers · 2026

    Department of Paediatrics Universitätsklinikum Hamburg-Eppendorf Hamburg Germany.

    Papers in Europe PMC
  2. 02
    Adams HR14 papers · 2026

    Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.

    Papers in Europe PMC
  3. 03
    Augustine EF14 papers · 2026

    Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.

    Papers in Europe PMC
  4. 04
    Weimer JM14 papers · 2026

    Sanford Research, Sioux Falls, SD, USA.

    Papers in Europe PMC
  5. 05
    Mink JW13 papers · 2026

    Department of Neurology, University of Rochester Medical Center, Rochester, NY, USA.

    Papers in Europe PMC
  6. 06
    Mole SE13 papers · 2026

    MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom.

    Papers in Europe PMC
  7. 07
    Cooper JD10 papers · 2026

    Pediatric Storage Disorders Laboratory, Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology & Neuroscience, King's College London, 5 Cutcombe Road, London, SE5 9RX, United Kingdom.

    Papers in Europe PMC
  8. 08
    van Hasselt PM9 papers · 2024

    Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, P.O. Box 85090, 3508, AB, Utrecht, the Netherlands. p.vanhasselt@umcutrecht.nl.

    Papers in Europe PMC
  9. 09
    Dang Do AN8 papers · 2026

    Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD, USA. an.dangdo@nih.gov.

    Papers in Europe PMC
  10. 10
    Johnson TB8 papers · 2026

    Sanford Research, Sioux Falls, SD, USA.

    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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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

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

Open the complete matched search on ClinicalTrials.gov

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 CLN3 disease — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely 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.

("CLN3 disease" OR "Neuronal ceroid lipofuscinosis type 3" OR "CLN3 neuronal ceroid lipofuscinosis" OR "Juvenile CLN3 Disease" OR "ceroid lipofuscinosis, neuronal, type 3" OR "neuronal ceroid lipofuscinosis 3" OR "neuronal ceroid lipofuscinosis caused by mutation in CLN3") OR ("CLN3" OR "CLN3 syndrome" OR "CLN3-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"CLN3 disease" OR "Neuronal ceroid lipofuscinosis type 3" OR "CLN3 neuronal ceroid lipofuscinosis" OR "Juvenile CLN3 Disease" OR "ceroid lipofuscinosis, neuronal, type 3" OR "neuronal ceroid lipofuscinosis 3" OR "neuronal ceroid lipofuscinosis caused by mutation in CLN3"

Interventional trials matched via: phrase (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 · 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: CLN3

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "Juvenile CLN3 Disease" also appears on ORPHA:699780
  • Publication count (4528) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T10:07:50.539Z