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ORPHA:85110

Familial encephalopathy with neuroserpin inclusion bodies

low confidenceDisorder

Also known as: FENIB

Publications

877

Trials

0

Interventional, condition-specific

Researchers

1,078

Distinct authors in sample

Gene link

SERPINI1

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare serpinopathy characterized by myoclonus and/or pre-senile dementia with prominent frontal-lobe features and relative sparing of recall memory. In addition, other neurological manifestations like cerebellar symptoms and pyramidal signs may be present. Age of onset is variable, the disease having been reported in children as well as elderly patients. Neuropathological examination reveals the typical neuronal inclusions of mutated neuroserpin (Collins bodies).

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.

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

    Strong — SERPINI1

  2. LiteraturePresent

    877 matched papers (549 in last 10 years) Source

  3. Phenotype characterisedPresent

    13 HPO annotations (e.g. Cerebral atrophy; Diplopia; Seizure) Source

  4. Animal modelPresent

    3 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 (SERPINI1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

13

Associated phenotypes · MONDO:0011412

  • Cerebral atrophy
  • Diplopia
  • Seizure
  • Dysarthria
  • Gliosis

Showing 5 of 13 — open Monarch for the full list.

Animal models (Monarch / Alliance)

3

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?

877

877 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.

877 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).

549 in the last 10 years · low confidence

Phrase hits: 233 · MeSH hits: 11

Open Europe PMC search

Who's working on it?

1,078

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
    Lomas DA35 papers · 2019

    Respiratory Medicine Unit, Department of Medicine, University of Cambridge, Cambridge Institute for Medical Research, Cambridge CB2 2XY, UK. dal16@cam.ac.uk

    Papers in Europe PMC
  2. 02
    Miranda E27 papers · 2025

    Department of Medicine, University of Cambridge, Cambridge Institute for Medical Research, Wellcome Trust/Medical Research Council Building, Hills Road, Cambridge CB2 2XY, United Kingdom. em285@cam.ac.uk

    Papers in Europe PMC
  3. 03
    Belorgey D13 papers · 2011

    Cambridge Institute for Medical Research, Department of Medicine, University of Cambridge, UK. db301@cam.ac.uk

    Papers in Europe PMC
  4. 04
    Crowther DC13 papers · 2016

    University of Cambridge Neurology Unit, Cambridge Institute for Medical Research, Cambridge, UK.

    Papers in Europe PMC
  5. 05
    Galliciotti G12 papers · 2025

    Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

    Papers in Europe PMC
  6. 06
    Marciniak SJ11 papers · 2022

    Cambridge Institute for Medical Research, Cambridge, United Kingdom; sjm20@cam.ac.uk.

    Papers in Europe PMC
  7. 07
    Ricagno S8 papers · 2021

    Dipartimento di Scienze Biomolecolari e Biotecnologie, Università di Milano, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Bolognesi M7 papers · 2020

    Dipartimento di Bioscienze and CIMAINA, Università degli Studi di Milano, Milan, Italy.

    Papers in Europe PMC
  9. 09
    Manno M7 papers · 2021

    National Research Council of Italy, Institute of Biophysics, Palermo, Italy.

    Papers in Europe PMC
  10. 10
    Roussel BD7 papers · 2016

    Department of Medicine, University of Cambridge, Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, Cambridge, UK.

    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.

None of the matched observational studies is currently listed as 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 Familial encephalopathy with neuroserpin inclusion bodies — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

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.

("Familial encephalopathy with neuroserpin inclusion bodies" OR "FENIB") OR (MESH:"Familial encephalopathy with neuroserpin inclusion bodies") OR ("SERPINI1" OR "SERPINI1 syndrome" OR "SERPINI1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Familial encephalopathy with neuroserpin inclusion bodies

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

"Familial encephalopathy with neuroserpin inclusion bodies" OR "FENIB"

Study-type breakdown: 0 interventional · 1 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (877) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T02:44:28.689Z