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ORPHA:329284

Beta-propeller protein-associated neurodegeneration

low confidenceDisorder

Also known as: BPAN · NBIA5 · Neurodegeneration with brain iron accumulation type 5 · SENDA · Static encephalopathy of childhood with neurodegeneration in adulthood

Publications

5,456

Trials

1

Interventional, condition-specific

Researchers

1,374

Distinct authors in sample

Gene link

WDR45

Definitive

Readiness

5/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — WDR45

  2. LiteraturePresent

    5,456 matched papers (2,668 in last 10 years) Source

  3. Phenotype characterisedPresent

    49 HPO annotations (e.g. Bradykinesia; Cerebellar atrophy; Seizure) 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 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)

49

Associated phenotypes · MONDO:0010476

  • Bradykinesia
  • Cerebellar atrophy
  • Seizure
  • Neurodegeneration
  • Spastic paraparesis

Showing 5 of 49 — 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?

5,456

5,456 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,456 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).

2,668 in the last 10 years · low confidence

Phrase hits: 4,790 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Senda 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
  2. 02
    Senda M13 papers · 2026

    Department of Molecular Imaging Research, Kobe City Medical Center General Hospital, Kobe, Japan.

    Papers in Europe PMC
  3. 03
    Senda 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
  4. 04
    Senda A10 papers · 2026

    Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto, Japan.

    Papers in Europe PMC
  5. 05
    Ajroud-Driss S9 papers · 2026

    Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

    Papers in Europe PMC
  6. 06
    Jedidi L7 papers · 2026

    Department of General Surgery, Jendouba Hospital, Jendouba, Tunisia.

    Papers in Europe PMC
  7. 07
    Matsumoto K7 papers · 2026

    Department of Urology, Keio University School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  8. 08
    Morishita K6 papers · 2026

    Department of Acute Critical Care and Disaster Medicine, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan.

    Papers in Europe PMC
  9. 09
    Yamane T6 papers · 2026

    Department of Molecular Imaging Research, Kobe City Medical Center General Hospital, Kobe, Japan.

    Papers in Europe PMC
  10. 10
    Akamatsu 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 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th 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.

Observational and natural-history studies

2 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

    Not reviewed·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

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 Beta-propeller protein-associated neurodegeneration — 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.

("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" OR "WDR45 syndrome" OR "WDR45-related")

Run this search on Europe PMC

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"

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 · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

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 (5456) 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