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ORPHA:228337

CLN10 disease

low confidenceDisorder

Also known as: NCL10 · Neuronal ceroid lipofuscinosis type 10

Publications

7,204

Trials

0

Interventional, condition-specific

Researchers

1,073

Distinct authors in sample

Gene link

CTSD

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare neuronal ceroid lipofuscinosis characterized by motor, cognitive and developmental regression with speech impairment, , limb weakness, visual impairment (notably retinitis pigmentosa), dysarthria and prosopagnosia. It may present with (the most commonly observed form of the disease), late (3 years) and juvenile-onset (4-8 years), and later stages into adulthood. form is associated with immediate postnatal onset of epileptic , respiratory failure and limb . Neonates have microcephaly with severe atrophy of the cerebrum and cerebellum with myelin deficiency, and retinal dysfunction.

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)

CLN10 · CLN10-NCL · CTSD neuronal ceroid lipofuscinosis · ceroid lipofuscinosis, neuronal, type 10 · neuronal ceroid lipofuscinosis caused by mutation in CTSD · neuronal ceroid lipofuscinosis due to cathepsin D deficiency · neuronal ceroid lipofuscinosis type 10

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.

  1. Gene identifiedPresent

    Definitive — CTSD

  2. LiteraturePresent

    7,204 matched papers (5,697 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Sensory axonal neuropathy; Split hand; Microcephaly) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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 (CTSD).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0012414

  • Sensory axonal neuropathy
  • Split hand
  • Microcephaly
  • Neuronal loss in central nervous system
  • Vascular granular osmiophilic material deposition

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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)

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?

7,204

7,204 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

7,204 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).

5,697 in the last 10 years · low confidence

Phrase hits: 370 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

1,073

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.

  1. 01
    Huber RJ15 papers · 2024

    Environmental and Life Sciences Graduate Program, Trent University, Peterborough, ON, Canada.

    Papers in Europe PMC
  2. 02
    Mole SE13 papers · 2025

    MRC Laboratory for Cell Biology, Department of Genetics, Evolution & Environment, UCL Institute of Child Health, University College London, Gower St, London, WC1E 6BT, UK.

    Papers in Europe PMC
  3. 03
    Simonati A10 papers · 2026

    Neurology (Neuropathology and Child Neurology), Department of Neuroscience, Biomedicine and Movement, University of VeronaVerona, Italy.

    Papers in Europe PMC
  4. 04
    Saftig P9 papers · 2025

    Institute of Biochemistry, Christian-Albrechts-University Kiel, Kiel, Germany.

    Papers in Europe PMC
  5. 05
    Bartsch U7 papers · 2023

    Department of Ophthalmology, Experimental Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

    Papers in Europe PMC
  6. 06
    Di Spiezio A7 papers · 2025

    Neuroscience Institute, National Research Council (CNR), Padua, Italy.

    Papers in Europe PMC
  7. 07
    Marques ARA7 papers · 2026

    Biochemisches Institut, CAU Kiel, Kiel, Germany.

    Papers in Europe PMC
  8. 08
    Santorelli FM7 papers · 2026

    Department of Neurological, Neuropsychological, Morphological, Motor Sciences, University of Verona, Verona, Italy.

    Papers in Europe PMC
  9. 09
    Kim WD6 papers · 2024

    Environmental and Life Sciences Graduate Program, Trent University, Peterborough, ON, Canada.

    Papers in Europe PMC
  10. 10
    Mathavarajah S6 papers · 2021

    Department of Biology, Trent University, 1600 West Bank Drive, Peterborough, ON K9L 0G2, Canada. smathavarajah@trentu.ca.

    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 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

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

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 CLN10 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.

("CLN10 disease" OR "NCL10" OR "Neuronal ceroid lipofuscinosis type 10" OR "CLN10" OR "CLN10-NCL" OR "CTSD neuronal ceroid lipofuscinosis" OR "ceroid lipofuscinosis, neuronal, type 10" OR "neuronal ceroid lipofuscinosis caused by mutation in CTSD" OR "neuronal ceroid lipofuscinosis due to cathepsin D deficiency") OR (MESH:"Ceroid Lipofuscinosis, Neuronal, 10") OR ("CTSD" OR "CTSD syndrome" OR "CTSD-related" OR "CLN10 syndrome" OR "CLN10-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Ceroid Lipofuscinosis, Neuronal, 10

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

"CLN10 disease" OR "NCL10" OR "Neuronal ceroid lipofuscinosis type 10" OR "CLN10" OR "CLN10-NCL" OR "CTSD neuronal ceroid lipofuscinosis" OR "ceroid lipofuscinosis, neuronal, type 10" OR "neuronal ceroid lipofuscinosis caused by mutation in CTSD" OR "neuronal ceroid lipofuscinosis due to cathepsin D deficiency" OR "Ceroid Lipofuscinosis, Neuronal, 10"

Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

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
  • Publication count (7204) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T10:07:28.729Z