ORPHA:85110
Familial encephalopathy with neuroserpin inclusion bodies
Also known as: FENIB
Publications
233
68.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,078
Distinct authors in sample
Gene link
SERPINI1
Strong
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011412
- MeSH:C536841
- OMIM:604218
- UMLS:C1858680
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.
- Gene identifiedPresent
Strong — SERPINI1
- LiteraturePresent
233 matched papers (115 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
233
233 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.
233 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).
115 in the last 10 years · medium confidence · 68.8th percentile (publications denominator)
Phrase hits: 233 · MeSH hits: 11
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.
- 01Lomas 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 - 02Miranda 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 - 03Belorgey D13 papers · 2011
Cambridge Institute for Medical Research, Department of Medicine, University of Cambridge, UK. db301@cam.ac.uk
Papers in Europe PMC - 04Crowther DC13 papers · 2016
University of Cambridge Neurology Unit, Cambridge Institute for Medical Research, Cambridge, UK.
Papers in Europe PMC - 05Galliciotti G12 papers · 2025
Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Papers in Europe PMC - 06Marciniak SJ11 papers · 2022
Cambridge Institute for Medical Research, Cambridge, United Kingdom; sjm20@cam.ac.uk.
Papers in Europe PMC - 07Ricagno S8 papers · 2021
Dipartimento di Scienze Biomolecolari e Biotecnologie, Università di Milano, Milan, Italy.
Papers in Europe PMC - 08Bolognesi M7 papers · 2020
Dipartimento di Bioscienze and CIMAINA, Università degli Studi di Milano, Milan, Italy.
Papers in Europe PMC - 09Manno M7 papers · 2021
National Research Council of Italy, Institute of Biophysics, Palermo, Italy.
Papers in Europe PMC - 10Roussel 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 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.
medium 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.
None of the matched observational studies is currently listed as recruiting.
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 2026-07-26This 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"
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" OR "SERPINI1" OR "Mendelian encephalopathy" OR "variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration"
Recall-expansion terms: SERPINI1, Mendelian encephalopathy, variable-age epilepsy syndrome with developmental and/or epileptic encephalopathy or progressive neurological deterioration
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; 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 (233) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T02:44:28.689Z