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ORPHA:157850

Pantothenate kinase-associated neurodegeneration

medium confidenceDisorder

Also known as: Hallervorden-Spatz syndrome · NBIA1 · Neurodegeneration with brain iron accumulation type 1 · PKAN

Publications

2,654

88.6th percentile

Trials

4

Interventional, condition-specific

Researchers

1,049

Distinct authors in sample

Gene link

PANK2

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurodegenerative disorder characterized by dystonia, dysarthria, retinal degeneration and abnormal iron accumulation in the globus pallidus and substantia nigra with a characteristic ''eye-of-the-tiger'' sign on T2-weighted MRI. Forms include classic disease with early onset and rapid progression and atypical disease with later onset and slower progression.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Hallervorden-Spatz disease · neurodegeneration with brain iron accumulation 1 · neurodegeneration with brain iron accumulation type 1 · pantothenate kinase-associated neurodegeneration · pigmentary pallidal degeneration

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — PANK2

  2. LiteraturePresent

    2,654 matched papers (1,274 in last 10 years) Source

  3. Phenotype characterisedPresent

    169 HPO annotations (e.g. Optic disc pallor; Spasticity; Dysarthria) Source

  4. Animal modelPresent

    1 genotype model (Danio rerio) Source

  5. Orphan designationPartial

    3 EMA designations (none yet with FDA orphan-indication approval) — e.g. S-acetyl-(S)-4'-phosphopantetheine, calcium salt Source

  6. Interventional trialPresent

    4 matched on ClinicalTrials.gov

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 (PANK2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

169

Associated phenotypes · MONDO:0009319

  • Optic disc pallor
  • Spasticity
  • Dysarthria
  • Frequent falls
  • Abnormal posturing

Showing 5 of 169 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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)

3

Designations · no FDA orphan-indication approval yet

  • EMA S-acetyl-(S)-4'-phosphopantetheine, calcium saltTreatment of pantothenate-kinase-associated neurodegeneration · 28/04/2016 · PositiveEMA designation
  • EMA 1-(4-(6-chloropyridazin-3-yl)piperazin-1-yl)-2-(4-cyclopropyl-3-fluorophenyl)ethan-1-oneTreatment of pantothenate kinase-associated neurodegeneration · 19/07/2021 · WithdrawnEMA designation
  • EMA Methyl 3-((2R)-2-hydroxy-4-(((((S)-1-methoxy-1-oxopropan-2-yl) amino)(phenoxy)phosphoryl)oxy)-3,3-dimethylbutanamido)propanoateTreatment of pantothenate-kinase-associated neurodegeneration · 17/02/2016 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0009319

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,654

2,654 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.

2,654 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).

1,274 in the last 10 years · medium confidence · 88.6th percentile (publications denominator)

Phrase hits: 1,974 · MeSH hits: 21

Open Europe PMC search

Who's working on it?

1,049

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
    Rohani M9 papers · 2024

    Iran University of Medical Sciences, Tehran.

    Papers in Europe PMC
  2. 02
    Wang J8 papers · 2025

    Key Laboratory of Systems Health Science of Zhejiang Province, School of Life Science, Hangzhou Institute for Advanced Studies, University of Chinese Academy of Sciences, Hangzhou, 310024, China.

    Papers in Europe PMC
  3. 03
    Álvarez-Córdoba M7 papers · 2025

    Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas (CSIC), Universidad Pablo de Olavide, 41013 Sevilla, Spain.

    Papers in Europe PMC
  4. 04
    Reche-López D7 papers · 2025

    Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas (CSIC), Universidad Pablo de Olavide, 41013 Sevilla, Spain.

    Papers in Europe PMC
  5. 05
    Stoeter P7 papers · 2025

    Department of Radiology, Centros de Diagnóstico y Medicina Avanzada y de Conferencias Médicas y Telemedicina, Dominican Republic.

    Papers in Europe PMC
  6. 06
    Cilleros-Holgado P6 papers · 2025

    Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas (CSIC), Universidad Pablo de Olavide, 41013 Sevilla, Spain.

    Papers in Europe PMC
  7. 07
    Munuera-Cabeza M6 papers · 2023

    Centro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013, Sevilla, Spain.

    Papers in Europe PMC
  8. 08
    Piñero-Pérez R6 papers · 2025

    Centro Andaluz de Biología del Desarrollo (CABD), Consejo Superior de Investigaciones Científicas (CSIC), Universidad Pablo de Olavide, 41013 Sevilla, Spain.

    Papers in Europe PMC
  9. 09
    Povea-Cabello S6 papers · 2023

    Centro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013, Sevilla, Spain.

    Papers in Europe PMC
  10. 10
    Suárez-Carrillo A6 papers · 2023

    Centro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), and Centro de Investigación Biomédica en Red: Enfermedades Raras, Instituto de Salud Carlos III, 41013, Sevilla, Spain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

4

interventional trials for this specific condition

4 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

medium confidence · 88.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

4 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 + 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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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 (2)

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 Pantothenate kinase-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.

("Pantothenate kinase-associated neurodegeneration" OR "Hallervorden-Spatz syndrome" OR "NBIA1" OR "Neurodegeneration with brain iron accumulation type 1" OR "Hallervorden-Spatz disease" OR "neurodegeneration with brain iron accumulation 1" OR "pigmentary pallidal degeneration") OR (MESH:"Pantothenate Kinase-Associated Neurodegeneration") OR ("PANK2" OR "PANK2 syndrome" OR "PANK2-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Pantothenate Kinase-Associated Neurodegeneration

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

"Pantothenate kinase-associated neurodegeneration" OR "Hallervorden-Spatz syndrome" OR "NBIA1" OR "Neurodegeneration with brain iron accumulation type 1" OR "Hallervorden-Spatz disease" OR "neurodegeneration with brain iron accumulation 1" OR "pigmentary pallidal degeneration"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 4 interventional · 2 observational · 1 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

Synonyms dropped by stoplist: PKAN

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

Ingested 2026-07-27T08:02:09.490Z