ORPHA:157846
Neuroferritinopathy
Also known as: Adult basal ganglia disease · Ferritin-related neurodegeneration · Hereditary ferritinopathy
Publications
565
Trials
0
Interventional, condition-specific
Researchers
982
Distinct authors in sample
Gene link
FTL
Strong
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011638
- MeSH:C548080
- OMIM:606159
- UMLS:C1853578
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.”
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 — FTL
- LiteraturePresent
565 matched papers (286 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 (FTL).
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?
565
565 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=5449) is 41.
565 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).
286 in the last 10 years · low confidence
Phrase hits: 565 · MeSH hits: 11
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.
- 01Vidal 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 - 02Chinnery PF10 papers · 2024
Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, England, UK.
Papers in Europe PMC - 03Levi S10 papers · 2025
Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Papers in Europe PMC - 04Cozzi A8 papers · 2025
San Raffaele Scientific Institute, DIBIT, 20132 Milan, Italy.
Papers in Europe PMC - 05Muhoberac BB8 papers · 2020
Department of Chemistry and Chemical Biology, Indiana University-Purdue University, Indianapolis, IN 46202, USA. bmuhober@iupui.edu
Papers in Europe PMC - 06Arosio P6 papers · 2025
Department of Molecular and Translational Medicine, Section of Biotechnologies, University of Brescia, Brescia, Italy.
Papers in Europe PMC - 07Baraibar 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 - 08Bhatia 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 - 09Garringer 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 - 10Ghetti 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 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
- 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
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.
"Neuroferritinopathy" OR "Adult basal ganglia disease" OR "Ferritin-related neurodegeneration" OR "Hereditary ferritinopathy" OR "NBIA3" OR "neurodegeneration with brain iron accumulation type 3"
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" OR "FTL"
Recall-expansion terms: FTL
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 short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (565) 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