ORPHA:46348
Paroxysmal extreme pain disorder
Also known as: Familial rectal pain
Publications
516
Trials
0
Interventional, condition-specific
Researchers
1,072
Distinct authors in sample
Gene link
SCN9A
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, neurological disorder characterized by severe episodic perirectal pain accompanied by skin flushing that is typically precipitated by defecation. Ocular and submaxillary pain, associated with triggers including cold or other irritants, may become more prominent with age.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008179
- MeSH:C563475
- OMIM:167400
- UMLS:C1833661
- NCIT:C125385
Additional Mondo synonyms (2)
familial rectal pain · paroxysmal extreme pain disorder
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — SCN9A
- LiteraturePresent
516 matched papers (298 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (SCN9A).
GenCC classification: Strong.
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?
516
516 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=5449) is 41.
516 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).
298 in the last 10 years · low confidence
Phrase hits: 516 · MeSH hits: 0
Who's working on it?
1,072
Distinct author names in 200 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.
- 01Waxman SG14 papers · 2026
Department of Neurology, Yale University School of Medicine, New Haven, Connecticut, United States.
Papers in Europe PMC - 02Lampert A11 papers · 2026
Institute of Physiology and Pathophysiology Friedrich-Alexander Universität Erlangen-Nürnberg, Universitaetsstrasse 17, 91054 Erlangen, Germany.
Papers in Europe PMC - 03Dib-Hajj SD10 papers · 2025
Department of Neurology, Yale University School of Medicine, New Haven, Connecticut, United States.
Papers in Europe PMC - 04Wood JN6 papers · 2024
Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London, UK.
Papers in Europe PMC - 05Cox JJ5 papers · 2026
Molecular Nociception Group, Wolfson Institute for Biomedical Research (WIBR), University College London (UCL), London WC1E 6BT, United Kingdom.
Papers in Europe PMC - 06Wang Z5 papers · 2026
School of Pharmacy, Hangzhou Normal University, Hangzhou 311121, Zhejiang, China.
Papers in Europe PMC - 07Cummins TR4 papers · 2025
Biology Department, School of Science, Indiana University Indianapolis, Indianapolis, IN, United States.
Papers in Europe PMC - 08Iseppon F4 papers · 2024
Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London, UK.
Papers in Europe PMC - 09Körner J4 papers · 2026
Institute of Physiology, Uniklinik RWTH Aachen University, Pauwelsstrasse 30, Aachen, Deutschland, 52074, Germany.
Papers in Europe PMC - 10Kurth I4 papers · 2026
Institute of Human Genetics, Jena University Hospital, Jena, Germany.
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. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
low 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
3 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
- NCT07532200·RECRUITING·SCN9A Gene Expression and Inflammatory Cytokines
Conditions: Pulpitis - Irreversible·Matched via name phrase
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 2026-07-26This 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.
"Paroxysmal extreme pain disorder" OR "Familial rectal pain"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Paroxysmal extreme pain disorder" OR "Familial rectal pain" OR "SCN9A"
Recall-expansion terms: SCN9A
Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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
- Publication count (516) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T00:09:59.846Z