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ORPHA:1947

Northern epilepsy

low confidenceSubtype of disorder

Also known as: CLN8 disease, Northern epilepsy variant · NCL, Northern epilepsy variant · Neuronal ceroid lipofuscinosis, Northern epilepsy variant · Progressive epilepsy-intellectual disability syndrome, Finnish type

Publications

1,015

Trials

0

Interventional, condition-specific

Researchers

577

Distinct authors in sample

Gene link

CLN8

Strong

Readiness

4/6

Stages with a signal

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

EPMR · early onset familial encephalopathy with neuroserpin inclusion bodies · neuronal ceroid lipofuscinosis, Northern epilepsy variant · progressive epilepsy with intellectual disability, northern epilepsy · progressive epilepsy-intellectual disability syndrome, Finnish type · progressive myoclonic epilepsy with neuroserpin inclusion bodies

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — CLN8

  2. LiteraturePresent

    1,015 matched papers (604 in last 10 years) Source

  3. Phenotype characterisedPresent

    51 HPO annotations (e.g. Visual impairment; Intellectual disability; Inability to walk) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialPartial

    None under the specific name; 1435 for broader category epilepsy

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 (CLN8).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

51

Associated phenotypes · MONDO:0012391

  • Visual impairment
  • Intellectual disability
  • Inability to walk
  • Progressive visual loss
  • Delayed speech and language development

Showing 5 of 51 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

1,015

1,015 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.

1,015 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).

604 in the last 10 years · low confidence

Phrase hits: 104 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

577

Distinct author names in 104 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
    Lehesjoki AE10 papers · 2005

    Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, PO Box 63 (Haartmaninkatu 8), FIN-00014 Helsinki, Finland. anna-elina.lehesjoki@helsinki.fi

    Papers in Europe PMC
  2. 02
    Hirvasniemi A9 papers · 2002

    Department of Pediatrics, Kainuu Central Hospital, Kajaani, Finland.

    Papers in Europe PMC
  3. 03
    Mole SE8 papers · 2021

    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
  4. 04
    Pearce DA6 papers · 2015

    Sanford Children's Health Research Center, Sanford Research, Sioux Falls, SD 57104, USA. Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, SD 57104, USA. David.Pearce@sanfordhealth.org.

    Papers in Europe PMC
  5. 05
    Ranta S6 papers · 2004

    Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.

    Papers in Europe PMC
  6. 06
    Haltia M4 papers · 2002

    Department of Pathology, University of Helsinki, Helsinki University Central Hospital, Finland. matti.j.haltia@helsinki.fi

    Papers in Europe PMC
  7. 07
    Santavuori P4 papers · 2001

    Department of Neurology, Hospital for Children and Adolescents, University of Helsinki, PL 280, 00029-HUS, Helsinki, Finland. psantavuori@clarinet.fi

    Papers in Europe PMC
  8. 08
    Goebel HH3 papers · 2004

    Department of Neuropathology, University Medical Center, Mainz, Germany.

    Papers in Europe PMC
  9. 09
    Herva R3 papers · 2002

    Department of Pathology, Oulu University Hospital and University of Oulu, Finland.

    Papers in Europe PMC
  10. 10
    Hinttala R3 papers · 2025

    Research Unit of Clinical Medicine, Medical Research Center, and , ,

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 1,435 trials are registered for epilepsy, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

1,435 interventional trials matched epilepsy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: epilepsy

1,435

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 36 · after dedupe 36 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 36 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (36)

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 Northern epilepsy — 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.

("Northern epilepsy" OR "CLN8 disease, Northern epilepsy variant" OR "NCL, Northern epilepsy variant" OR "Neuronal ceroid lipofuscinosis, Northern epilepsy variant" OR "Progressive epilepsy-intellectual disability syndrome, Finnish type" OR "early onset familial encephalopathy with neuroserpin inclusion bodies" OR "progressive epilepsy with intellectual disability, northern epilepsy" OR "progressive myoclonic epilepsy with neuroserpin inclusion bodies") OR ("CLN8" OR "CLN8 syndrome" OR "CLN8-related")

Run this search on Europe PMC

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

"Northern epilepsy" OR "CLN8 disease, Northern epilepsy variant" OR "NCL, Northern epilepsy variant" OR "Neuronal ceroid lipofuscinosis, Northern epilepsy variant" OR "Progressive epilepsy-intellectual disability syndrome, Finnish type" OR "early onset familial encephalopathy with neuroserpin inclusion bodies" OR "progressive epilepsy with intellectual disability, northern epilepsy" OR "progressive myoclonic epilepsy with neuroserpin inclusion bodies"

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

Parent-category trials query:

"epilepsy"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: EPMR

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • "early onset familial encephalopathy with neuroserpin inclusion bodies" also appears on ORPHA:530298
  • "progressive myoclonic epilepsy with neuroserpin inclusion bodies" also appears on ORPHA:530298

Ingested 2026-07-26T18:35:16.260Z