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ORPHA:166409

Photosensitive occipital lobe epilepsy

medium confidenceDisorder

Also known as: POLE

Publications

613

78.3th percentile

Trials

1

Interventional, condition-specific

Researchers

1,214

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare syndrome with onset in childhood and adolescence characterized by focal involving the occipital lobe triggered by visual stimuli.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

photoparoxysmal response

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

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    613 matched papers (342 in last 10 years) Source

  3. Phenotype characterisedPresent

    1 HPO annotations (e.g. EEG with photoparoxysmal response) 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 trialPresent

    1 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?

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

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

Phenotypes (Monarch / HPO)

1

Associated phenotypes · MONDO:0015643

  • EEG with photoparoxysmal response

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

10

Drugs / clinical candidates · MONDO_0015643

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

613

613 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.

613 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).

342 in the last 10 years · medium confidence · 78.3th percentile (publications denominator)

Phrase hits: 613 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,214

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
    Kasteleijn-Nolst Trenité D6 papers · 2025

    Department of Neurosurgery and Epilepsy, University Medical Center Utrecht, Utrecht, the Netherlands; Nesmos Department, Faculty of Medicine and Psychology, Sapienza University, Roma, Italy.

    Papers in Europe PMC
  2. 02
    Wang S6 papers · 2025

    The First Affiliated Hospital of Hainan Medical University Department of Neurology

    Papers in Europe PMC
  3. 03
    Baumer FM5 papers · 2026

    Stanford University School of Medicine, Department of Neurology, Division of Child Neurology, United States. Electronic address: fbaumer@stanford.edu.

    Papers in Europe PMC
  4. 04
    Baykan B5 papers · 2025

    Departments of Neurology and Clinical Neurophysiology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey; Department of Neurology, EMAR Medical Center, Istanbul, Turkey. Electronic address: betul.baykan.baykal@gmail.com.

    Papers in Europe PMC
  5. 05
    Beniczky S5 papers · 2025

    Department of Clinical Neurophysiology, Danish Epilepsy Center, Dianalund and Aarhus University Hospital, Aarhus, Denmark.

    Papers in Europe PMC
  6. 06
    Beydoun A5 papers · 2025

    Department of Neurology, American University of Beirut Medical Center, Beirut, Lebanon.

    Papers in Europe PMC
  7. 07
    Canafoglia L5 papers · 2025

    Department of Neurophysiopathology, Epilepsy Centre, C. Besta Foundation Neurological Institute, Milan, Italy.

    Papers in Europe PMC
  8. 08
    Di Bonaventura C5 papers · 2024

    Epilepsy Unit, Department of Human Neurosciences, Policlinico "Umberto I", Sapienza University, Rome, Italy.

    Papers in Europe PMC
  9. 09
    Guerrini R5 papers · 2026

    Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy. r.guerrini@meyer.it

    Papers in Europe PMC
  10. 10
    Morano A5 papers · 2024

    Epilepsy Unit, Department of Human Neurosciences, Policlinico "Umberto I", Sapienza University, Rome, Italy.

    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; none in our sample are currently recruiting.

Data as of 11 September 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).

medium 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.

No currently recruiting studies in the matched set. Open the same 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 Photosensitive occipital lobe epilepsy — 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.

"Photosensitive occipital lobe epilepsy" OR "photoparoxysmal response"

Run this search on Europe PMC

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

"Photosensitive occipital lobe epilepsy" OR "photoparoxysmal response"

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 · 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: POLE

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 2026-07-27T08:23:40.117Z