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ORPHA:459033

Ataxia-oculomotor apraxia type 4

low confidenceDisorder

Also known as: AOA4

Publications

3,576

Trials

0

Interventional, condition-specific

Researchers

55

Distinct authors in sample

Gene link

PNKP

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare cerebellar characterized by onset of dystonia and other extrapyramidal signs, , oculomotor apraxia, and sensorimotor polyneuropathy in the first decade of life. Patients present distal muscle weakness and atrophy, decreased vibratory sensation, and areflexia, and usually become wheelchair-bound by the third decade. Variable cognitive impairment may also be seen.

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 (3)

PNKP oculomotor apraxia or related oculomotor disease · ataxia - oculomotor apraxia type 4 · oculomotor apraxia or related oculomotor disease caused by mutation in PNKP

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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — PNKP

  2. LiteraturePresent

    3,576 matched papers (1,943 in last 10 years) Source

  3. Phenotype characterisedPresent

    36 HPO annotations (e.g. Somatic sensory dysfunction; Distal lower limb muscle weakness; Dyslexia) 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (PNKP).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

36

Associated phenotypes · MONDO:0014557

  • Somatic sensory dysfunction
  • Distal lower limb muscle weakness
  • Dyslexia
  • Muscular dystrophy
  • Cognitive impairment

Showing 5 of 36 — 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 2026-07-29

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?

3,576

3,576 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.

3,576 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).

1,943 in the last 10 years · low confidence

Phrase hits: 8 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

55

Distinct author names in 8 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
    Abou Jamra R1 paper · 2022

    Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

    Papers in Europe PMC
  2. 02
    Almadani N1 paper · 2021

    Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran.

    Papers in Europe PMC
  3. 03
    Auber B1 paper · 2018

    Department of Human Genetics, Hannover Medical School, Hanover, Germany.

    Papers in Europe PMC
  4. 04
    Balint B1 paper · 2018

    Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology, Queen Square London WC1N3BG UK.

    Papers in Europe PMC
  5. 05
    Bartolomaeus T1 paper · 2022

    Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

    Papers in Europe PMC
  6. 06
    Bermúdez-Guzmán L1 paper · 2022

    Section of Genetics and Biotechnology, School of Biology, University de Costa Rica, San José, Costa Rica.

    Papers in Europe PMC
  7. 07
    Bhatia KP1 paper · 2018

    Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology, Queen Square London WC1N3BG UK.

    Papers in Europe PMC
  8. 08
    Bitarafan F1 paper · 2021

    Department of Cellular and Molecular Biology, North Tehran Branch, Islamic Azad University, Tehran, Iran.

    Papers in Europe PMC
  9. 09
    Döring J1 paper · 2022

    Department of Pediatrics, Hospital for Children and Adolescents, Heidelberg University Hospital, Heidelberg, Germany.

    Papers in Europe PMC
  10. 10
    El-Hattab AW1 paper · 2017

    d Division of Clinical Genetics and Metabolic Disorders , Tawam Hospital , Al-Ain , United Arab Emirates.

    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).

Data as of 11 September 2026 · last trial check 11 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.

low 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 Ataxia-oculomotor apraxia type 4 — 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.

("Ataxia-oculomotor apraxia type 4" OR "PNKP oculomotor apraxia or related oculomotor disease" OR "ataxia - oculomotor apraxia type 4") OR ("PNKP" OR "PNKP syndrome" OR "PNKP-related")

Run this search on Europe PMC

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

"Ataxia-oculomotor apraxia type 4" OR "PNKP oculomotor apraxia or related oculomotor disease" OR "ataxia - oculomotor apraxia type 4"

Study-type breakdown: 0 interventional · 0 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: AOA4; oculomotor apraxia or related oculomotor disease caused by mutation in PNKP

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 (3576) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T16:53:11.707Z