ORPHA:329284
Beta-propeller protein-associated neurodegeneration
Also known as: BPAN · NBIA5 · Neurodegeneration with brain iron accumulation type 5 · SENDA · Static encephalopathy of childhood with neurodegeneration in adulthood
Publications
4,790
Trials
1
Interventional, condition-specific
Researchers
1,374
Distinct authors in sample
Gene link
WDR45
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Beta-propeller protein-associated neurodegeneration (BPAN), also known as static of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset and further neurological deterioration in early adulthood.
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:0010476
- OMIM:300894
- UMLS:C3550973
- NCIT:C175210
Additional Mondo synonyms (8)
WDR45 neurodegeneration with brain iron accumulation · beta-propeller protein-associated neurodegeneration · neurodegeneration with brain iron accumulation 5 · neurodegeneration with brain iron accumulation 5, X-linked dominant · neurodegeneration with brain iron accumulation caused by mutation in WDR45 · neurodegeneration with brain iron accumulation type 5 · static encephalopathy Of childhood with neurodegeneration In adulthood · static encephalopathy of childhood with neurdegeneration in adulthood
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — WDR45
- LiteraturePresent
4,790 matched papers (2,099 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 trialPresent
1 matched on ClinicalTrials.gov (1 recruiting in sample)
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 (WDR45).
GenCC classification: Definitive.
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?
4,790
4,790 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.
4,790 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).
2,099 in the last 10 years · low confidence
Phrase hits: 4,790 · MeSH hits: 0
Who's working on it?
1,374
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Senda T22 papers · 2026
Structural Biology Research Center, Institute of Materials Structure Science, High Energy Accelerator Research Organization (KEK), Tsukuba, Ibaraki, Japan.
Papers in Europe PMC - 02Senda M13 papers · 2026
Department of Molecular Imaging Research, Kobe City Medical Center General Hospital, Kobe, Japan.
Papers in Europe PMC - 03Senda K11 papers · 2026
Department of Chemistry and Biochemistry, School of Advanced Science and Engineering, Waseda University, 3-4-1 Okubo, Shinjuku, Tokyo, 169-8555, Japan.
Papers in Europe PMC - 04Senda A10 papers · 2026
Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Papers in Europe PMC - 05Ajroud-Driss S9 papers · 2026
Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Papers in Europe PMC - 06Jedidi L7 papers · 2026
Department of General Surgery, Jendouba Hospital, Jendouba, Tunisia.
Papers in Europe PMC - 07Matsumoto K7 papers · 2026
Department of Urology, Keio University School of Medicine, Tokyo, Japan.
Papers in Europe PMC - 08Morishita K6 papers · 2026
Department of Acute Critical Care and Disaster Medicine, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan.
Papers in Europe PMC - 09Yamane T6 papers · 2026
Department of Molecular Imaging Research, Kobe City Medical Center General Hospital, Kobe, Japan.
Papers in Europe PMC - 10Akamatsu G5 papers · 2026
Department of Molecular Imaging Research, Kobe City Medical Center General Hospital, Kobe, Japan.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06938542·ENROLLING BY INVITATION·Palliative Care Needs of Children With Rare Diseases and Their Families
Conditions: Trisomy 13 Syndrome · Arthrogryposis Congenita Multiplex With Intestinal Atresia · Asparagine Synthetase Deficiency · CHARGE Syndrome·Matched via name phrase
Observational and natural-history studies
3 observational studies match 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 phrase
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.
"Beta-propeller protein-associated neurodegeneration" OR "NBIA5" OR "Neurodegeneration with brain iron accumulation type 5" OR "SENDA" OR "Static encephalopathy of childhood with neurodegeneration in adulthood" OR "Static encephalopathy of the childhood with neurodegeneration in adulthood" OR "WDR45 neurodegeneration with brain iron accumulation" OR "neurodegeneration with brain iron accumulation 5" OR "neurodegeneration with brain iron accumulation 5, X-linked dominant" OR "neurodegeneration with brain iron accumulation caused by mutation in WDR45" OR "static encephalopathy of childhood with neurdegeneration in adulthood" OR "static encephalopathy of the childhood with neurdegeneration in adulthood"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Beta-propeller protein-associated neurodegeneration" OR "NBIA5" OR "Neurodegeneration with brain iron accumulation type 5" OR "SENDA" OR "Static encephalopathy of childhood with neurodegeneration in adulthood" OR "Static encephalopathy of the childhood with neurodegeneration in adulthood" OR "WDR45 neurodegeneration with brain iron accumulation" OR "neurodegeneration with brain iron accumulation 5" OR "neurodegeneration with brain iron accumulation 5, X-linked dominant" OR "neurodegeneration with brain iron accumulation caused by mutation in WDR45" OR "static encephalopathy of childhood with neurdegeneration in adulthood" OR "static encephalopathy of the childhood with neurdegeneration in adulthood" OR "WDR45"
Recall-expansion terms: WDR45
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: BPAN
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (4790) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T13:50:36.495Z