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ORPHA:216866

Classic pantothenate kinase-associated neurodegeneration

high confidenceSubtype of disorder

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

Publications

10

17.7th percentile

Trials

0

Interventional, condition-specific

Researchers

67

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, childhood-onset 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. Classic PKAN has early onset and rapid progression and accounts for about 75% 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, classic 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.”

2/6 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

    10 matched papers (4 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

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?

10

10 papers have ever been indexed 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=5449) is 41.

10 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).

4 in the last 10 years · high confidence · 17.7th percentile (publications denominator)

Phrase hits: 10 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

67

Distinct author names in 10 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
    Alizadeh E1 paper · 2018

    Iran University of Medical Sciences, Tehran.

    Papers in Europe PMC
  2. 02
    Alonso Ortiz MB1 paper · 2020

    Internal Medicine Department, Dr Negrin University Hospital, Las Palmas de Gran Canaria, Spain.

    Papers in Europe PMC
  3. 03
    Baytan B1 paper · 2009
    Papers in Europe PMC
  4. 04
    Bubanale S1 paper · 2011
    Papers in Europe PMC
  5. 05
    Cangül H1 paper · 2009

    Department of Medical Genetics, Uludağ University Faculty of Medicine, Bursa, Turkey.

    Papers in Europe PMC
  6. 06
    Chan KY1 paper · 2008

    Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Laichikok, Kowloon, Hong Kong. chanky1@ha.org.hk

    Papers in Europe PMC
  7. 07
    Chiapparini L1 paper · 2011

    Department of Neuroradiology, IRCCS Neurological Institute Carlo Besta, Milano, Italy. lchiapparini@istituto-besta.it

    Papers in Europe PMC
  8. 08
    Chong WK1 paper · 2006
    Papers in Europe PMC
  9. 09
    Cordelli DM1 paper · 2011
    Papers in Europe PMC
  10. 10
    Cordoba Sosa Z1 paper · 2020

    Internal Medicine Department, Fuerteventura General Hospital, Puerto del Rosario, Spain.

    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 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.

high 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.

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.

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 2026-07-26

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.

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

Run this search on Europe PMC

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

"Classic pantothenate kinase-associated neurodegeneration" OR "NBIA1, classic form" OR "Neurodegeneration with brain iron accumulation type 1, classic form" OR "PKAN, classic 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 2026-07-27T09:42:48.308Z