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ORPHA:228343

CLN4 disease

low confidenceDisorder

Also known as: NCL4 · Neuronal ceroid lipofuscinosis type 4

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

60

Trials

0

Interventional, condition-specific

Researchers

301

Distinct authors in sample

Gene link

DNAJC5

Strong

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare neuronal ceroid lipofuscinosis characterized by adult-onset (20-early 30 years) generalized tonic-clonic and myoclonic , speech deterioration, dementia and . Some patients may also exhibit Parkinsonism. Visual impairment is usually not present. This is the only ceroid lipofuscinosis form inherited dominantly.

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 (6)

CLN4 · autosomal dominant Kufs disease · ceroid lipofuscinosis, neuronal, 4 (Kufs type) · ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant · neuronal ceroid lipofuscinosis type 4B · neuronal ceroid lipofuscinosis, parry type

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.

  1. Gene identifiedPresent

    Strong — DNAJC5

  2. LiteraturePresent

    60 matched papers (40 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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 (DNAJC5).

GenCC classification: Strong.

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?

60

60 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.

60 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).

40 in the last 10 years · low confidence

Phrase hits: 60 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

301

Distinct author names in 60 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 RJ5 papers · 2022

    Department of Biology, Trent University, Peterborough, ON K9L 0G2, Canada.

    Papers in Europe PMC
  2. 02
    Dolzhanskaya N4 papers · 2020

    Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA.

    Papers in Europe PMC
  3. 03
    Mole SE4 papers · 2021

    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
  4. 04
    Morgan A4 papers · 2023

    Department of Cellular and Molecular Physiology, Institute of Translational Medicine, University of Liverpool, Crown St, Liverpool, L69 3BX UK.

    Papers in Europe PMC
  5. 05
    Velinov M4 papers · 2021

    Department of Pediatrics, Albert Einstein College of Medicine, New York, NY, USA.

    Papers in Europe PMC
  6. 06
    Barclay JW3 papers · 2023

    Department of Cellular and Molecular Physiology, Institute of Translational Medicine, University of Liverpool, Crown St, Liverpool, L69 3BX UK.

    Papers in Europe PMC
  7. 07
    Berkovic SF3 papers · 2023

    Epilepsy Research Center, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.

    Papers in Europe PMC
  8. 08
    Burgoyne RD3 papers · 2015

    Department of Cellular and Molecular Physiology, Institute of Translational Medicine, University of Liverpool, Crown St, Liverpool, L69 3BX UK.

    Papers in Europe PMC
  9. 09
    Cotman SL3 papers · 2022

    Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA.

    Papers in Europe PMC
  10. 10
    Staropoli JF3 papers · 2016

    Department of Neurology, Center for Human Genetics Research, Massachusetts General Hospital, Boston, MA, 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 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.

low 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

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"CLN4 disease" OR "Neuronal ceroid lipofuscinosis type 4" OR "autosomal dominant Kufs disease" OR "ceroid lipofuscinosis, neuronal, 4 (Kufs type)" OR "ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant" OR "neuronal ceroid lipofuscinosis type 4B" OR "neuronal ceroid lipofuscinosis, parry type"

Run this search on Europe PMC

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

"CLN4 disease" OR "Neuronal ceroid lipofuscinosis type 4" OR "autosomal dominant Kufs disease" OR "ceroid lipofuscinosis, neuronal, 4 (Kufs type)" OR "ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant" OR "neuronal ceroid lipofuscinosis type 4B" OR "neuronal ceroid lipofuscinosis, parry type" OR "DNAJC5"

Recall-expansion terms: DNAJC5

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

Synonyms dropped by stoplist: NCL4; CLN4

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 2026-07-27T10:07:40.114Z