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ORPHA:157846

Neuroferritinopathy

low confidenceDisorder

Also known as: Adult basal ganglia disease · Ferritin-related neurodegeneration · Hereditary ferritinopathy

Publications

574

Trials

0

Interventional, condition-specific

Researchers

982

Distinct authors in sample

Gene link

FTL

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA) characterized by chorea or dystonia and subtle cognitive deficits.

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)

NBIA3 · adult basal ganglia disease · ferritin-related neurodegeneration · hereditary ferritinopathy · neurodegeneration with brain iron accumulation type 3 · neuroferritinopathy

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 — FTL

  2. LiteraturePresent

    574 matched papers (293 in last 10 years) Source

  3. Phenotype characterisedPresent

    73 HPO annotations (e.g. Abnormal basal ganglia morphology; Decreased circulating ferritin concentration; Iron accumulation in brain) Source

  4. Animal modelPresent

    2 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 (FTL).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

73

Associated phenotypes · MONDO:0011638

  • Abnormal basal ganglia morphology
  • Decreased circulating ferritin concentration
  • Iron accumulation in brain
  • Abnormal caudate nucleus morphology
  • T2 hypointense thalamus

Showing 5 of 73 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

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?

574

574 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.

574 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).

293 in the last 10 years · low confidence

Phrase hits: 565 · MeSH hits: 11

Open Europe PMC search

Who's working on it?

982

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
    Vidal R13 papers · 2020

    Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, 46202, United States of America.

    Papers in Europe PMC
  2. 02
    Chinnery PF10 papers · 2024

    Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, England, UK.

    Papers in Europe PMC
  3. 03
    Levi S10 papers · 2025

    Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.

    Papers in Europe PMC
  4. 04
    Cozzi A8 papers · 2025

    San Raffaele Scientific Institute, DIBIT, 20132 Milan, Italy.

    Papers in Europe PMC
  5. 05
    Muhoberac BB8 papers · 2020

    Department of Chemistry and Chemical Biology, Indiana University-Purdue University, Indianapolis, IN 46202, USA. bmuhober@iupui.edu

    Papers in Europe PMC
  6. 06
    Arosio P6 papers · 2025

    Department of Molecular and Translational Medicine, Section of Biotechnologies, University of Brescia, Brescia, Italy.

    Papers in Europe PMC
  7. 07
    Baraibar MA5 papers · 2012

    Department of Pathology and Laboratory Medicine, Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

    Papers in Europe PMC
  8. 08
    Bhatia KP5 papers · 2025

    From UCL Institute of Neurology (A.B., R.E., C.G., B.B., K.P.B., N.E.M.), London; National Hospital for Neurology and Neurosurgery (M.E.A.), London, UK; IRCCS Istituto Auxologico Italiano (R.E.), Dino Ferrari Center, Università degli Studi di Milano, Italy; and University Medical Center Hamburg-Eppendorf (C.G.), Hamburg, Germany. k.bhatia@ion.ucl.ac.uk.

    Papers in Europe PMC
  9. 09
    Garringer HJ5 papers · 2020

    Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, 46202, United States of America.

    Papers in Europe PMC
  10. 10
    Ghetti B5 papers · 2020

    Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, 46202, United States of America.

    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.

Recruiting or not-yet-recruiting

  • NCT05522374·RECRUITING·TIRCON International NBIA Registry

    Conditions: Neurodegeneration With Brain Iron Accumulation (NBIA) · Pantothenate Kinase-associated Neurodegeneration (PKAN) · Beta-Propeller Protein-Associated Neurodegeneration (BPAN) · Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN)·Matched via name + MeSH

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 12 · after dedupe 12 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 12 · 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).

Uncertain / not reviewed (12)

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 Neuroferritinopathy — 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.

("Neuroferritinopathy" OR "Adult basal ganglia disease" OR "Ferritin-related neurodegeneration" OR "Hereditary ferritinopathy" OR "NBIA3" OR "neurodegeneration with brain iron accumulation type 3") OR (MESH:"Neuroferritinopathy") OR ("FTL syndrome" OR "FTL-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Neuroferritinopathy

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

"Neuroferritinopathy" OR "Adult basal ganglia disease" OR "Ferritin-related neurodegeneration" OR "Hereditary ferritinopathy" OR "NBIA3" OR "neurodegeneration with brain iron accumulation type 3"

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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (574) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T08:01:39.749Z