ORPHA:391384
Familial episodic pain syndrome
Also known as: FEPS
Publications
208
61.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,257
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic peripheral characterized by recurrent, stereotyped, episodic intense pain, ocurring predominantly in either the upper body or lower limbs in several members of a family, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion and may or may not diminish with age. Sweating and other manifestations, such as tachycardia, breathing difficulties and generalized pallor, may be associated.
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:0018319
- UMLS:C5190598
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
208 matched papers (136 in last 10 years) Source
- Phenotype characterisedPresent
4 HPO annotations (e.g. Dysesthesia; Abnormal autonomic nervous system physiology; Pain) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
4
Associated phenotypes · MONDO:0018319
- Dysesthesia
- Abnormal autonomic nervous system physiology
- Pain
- Episodic pain
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Scn11aem1Akoi/Scn11a+ [background:] involves: C57BL/6·MGI:6392909·Mus musculus
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?
208
208 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.
208 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).
136 in the last 10 years · medium confidence · 61.8th percentile (publications denominator)
Phrase hits: 208 · MeSH hits: 0
Who's working on it?
1,257
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.
- 01Koizumi A8 papers · 2025
Department of Health and Environmental Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Papers in Europe PMC - 02Okuda H8 papers · 2025
Laboratory of Molecular Biosciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Papers in Europe PMC - 03Youssefian S7 papers · 2025
Laboratory of Molecular Biosciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Papers in Europe PMC - 04Waxman SG6 papers · 2023
Department of Neurology and Center for Neuroscience and Regeneration Research, Yale University School of Medicine; and Rehabilitation Research Center, Veterans Administration Connecticut Healthcare System, West Haven, Connecticut, USA.
Papers in Europe PMC - 05Chen J5 papers · 2023
Department of Chemistry, University of Massachusetts, Amherst, MA, United States.
Papers in Europe PMC - 06Lauria G5 papers · 2025
Neuroalgology Unit, IRCCS Foundation "Carlo Besta" Neurological Institute, 20133 Milan, Italy.
Papers in Europe PMC - 07Noguchi A5 papers · 2025
Department of Pediatrics, Akita University School of Medicine, Akita, Japan.
Papers in Europe PMC - 08Szallasi A5 papers · 2025
Clinical Laboratories, Baptist Medical Center, Jacksonville, FL, USA.
Papers in Europe PMC - 09Takahashi T5 papers · 2025
Department of Pediatrics, Akita University School of Medicine, Akita, Japan.
Papers in Europe PMC - 10
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.
medium 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 Familial episodic pain syndrome — check Associations / patient organisations on that page.
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.
"Familial episodic pain syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial episodic pain syndrome"
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: FEPS
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 2026-07-27T15:03:56.509Z