RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:216873

Atypical pantothenate kinase-associated neurodegeneration

high confidenceSubtype of disorder

Also known as: NBIA1, atypical form · Neurodegeneration with brain iron accumulation type 1, atypical form · PKAN, atypical form

Publications

32

34.8th percentile

Trials

0

Interventional, condition-specific

Researchers

199

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare neurodegenerative disorder characterized by adolescent to adult-onset of slowly dystonia, dysarthria, neuropsychiatric changes, parkinsonism and abnormal iron accumulation in the globus pallidus and substantia nigra with a characteristic eye-of-the-tiger sign on T2-weighted MRI. Atypical pantothenate kinase-associated neurodegeneration (PKAN) has later onset and slower progression than classic PKAN and accounts for about 25% of cases.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

neurodegeneration with brain iron accumulation type 1, atypical form

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    32 matched papers (18 in last 10 years) Source

  3. Phenotype characterisedPresent

    30 HPO annotations (e.g. Emotional lability; Depression; Upper motor neuron dysfunction) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 4 for broader category pantothenate kinase-associated neurodegeneration

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

30

Associated phenotypes · MONDO:0016305

  • Emotional lability
  • Depression
  • Upper motor neuron dysfunction
  • Focal dystonia
  • Impulsivity

Showing 5 of 30 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-27

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?

32

32 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

32 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).

18 in the last 10 years · high confidence · 34.8th percentile (publications denominator)

Phrase hits: 32 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

199

Distinct author names in 32 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
    Hopfner F2 papers · 2021

    Department of Neurology, Hannover Medical School, Hannover, Germany.

    Papers in Europe PMC
  2. 02
    Kim YJ2 papers · 2016

    Department of Neurology, Hallym University Sacred Heart Hospital, Anyang, Korea.

    Papers in Europe PMC
  3. 03
    Kuhlenbäumer G2 papers · 2021

    Department of Neurology, Kiel University, Kiel, Germany.

    Papers in Europe PMC
  4. 04
    Lee PH2 papers · 2016

    Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.

    Papers in Europe PMC
  5. 05
    Rohani M2 papers · 2023

    Iran University of Medical Sciences, Tehran.

    Papers in Europe PMC
  6. 06
    Salama M2 papers · 2021

    Institute of Global Health and Human Ecology, American University in Cairo (AUC), Cairo, Egypt.

    Papers in Europe PMC
  7. 07
    Sung YH2 papers · 2016

    Department of Neurology, Gachon University Gil Hospital, Incheon, Korea.

    Papers in Europe PMC
  8. 08
    Abada Bendib M1 paper · 2017

    Department of neurology, university hospital of Ben Aknoun, Algiers, Algeria.

    Papers in Europe PMC
  9. 09
    Abdelrahman I1 paper · 2021
    Papers in Europe PMC
  10. 10
    Abdelrahman IY1 paper · 2021

    Radiation Biology Department, National Center for Radiation Research and Technology, Egyptian Atomic Energy Authority, Cairo, Egypt.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 4 trials are registered for pantothenate kinase-associated neurodegeneration, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 9 September 2026 · last trial check 9 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.

high 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.

4 interventional trials matched pantothenate kinase-associated neurodegeneration, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: pantothenate kinase-associated neurodegeneration

4

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-27

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 (1)

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 Atypical 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.

"Atypical pantothenate kinase-associated neurodegeneration" OR "NBIA1, atypical form" OR "Neurodegeneration with brain iron accumulation type 1, atypical form" OR "PKAN, atypical form"

Run this search on Europe PMC

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

"Atypical pantothenate kinase-associated neurodegeneration" OR "NBIA1, atypical form" OR "Neurodegeneration with brain iron accumulation type 1, atypical form" OR "PKAN, atypical form"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"pantothenate kinase-associated neurodegeneration"

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T02:26:39.861Z