ORPHA:391389
Familial episodic pain syndrome with predominantly upper body involvement
Publications
13,532
Trials
0
Interventional, condition-specific
Researchers
0
Distinct authors in sample
Gene link
TRPA1
Moderate
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A subtype of familial episodic pain syndrome characterized by episodes of severe debilitating pain mainly affecting shoulders, thorax and arms (occasionally radiating to the abdomen and legs), triggered by fasting, fatigue, cold temperatures or physical exercise, which last for 60-90 min and respond poorly to conventional analgesia. Intense pain episodes are accompanied by dyspnea, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall and are followed by a period of exhaustion and somnolence.
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:0014021
- OMIM:615040
- UMLS:C3808667
Additional Mondo synonyms (1)
episodic pain syndrome, familial, type 1
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.
- Gene identifiedPresent
Moderate — TRPA1
- LiteraturePresent
13,532 matched papers (9,706 in last 10 years) Source
- Phenotype characterisedPresent
1 HPO annotations (e.g. Episodic pain) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- 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?
Probably — there is moderate evidence for TRPA1.
GenCC classification: Moderate.
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?
13,532
13,532 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
13,532 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).
9,706 in the last 10 years · low confidence
Phrase hits: 0 · MeSH hits: 0
Who's working on it?
0
Distinct author names in 0 sampled papers.
Who's working on it?
No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.
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.
Broader category familial episodic pain syndrome also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: familial episodic pain syndrome
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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 60 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 59 · 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).
Uncertain / not reviewed (59)
- ctis·2025-524711-36-00·Authorised·A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of ALKS 2680 in Adults With Narcolepsy Type 1
skipped — LLM skipped (--skip-llm)
- ctis·2025-523662-24-00·Authorised·Phase 3 Single-Arm Open-Label Study to Evaluate the Efficacy and Safety of Zodasiran in Adolescent Subjects (age 12 to <18 years) with Homozygous Familial Hypercholesterolemia (SPRUCE)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524449-28-00·Authorised·A Dose-Escalation Study Evaluating the Safety and Pharmacokinetics of IMC-S118AI in HLA-A*02:01-Positive Participants With Type 1 Diabetes
skipped — LLM skipped (--skip-llm)
- ctis·2026-525282-50-00·Authorised·A Phase 1b-2, Multicenter, Trial to Evaluate the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of REC-4881 in Patients with Familial Adenomatous Polyposis (FAP)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523503-30-00·Authorised·A Randomized, Double-Blind, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of E2086 in Adults with Narcolepsy
skipped — LLM skipped (--skip-llm)
- ctis·2025-522723-98-00·Authorised·A Phase 1/2 Study of Inhaled KB707 in Patients with Advanced Solid Tumor Malignancies Affecting the Lungs
skipped — LLM skipped (--skip-llm)
- ctis·2025-522587-33-00·Authorised·A Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Safety, Tolerability, and Efficacy of TAK-360 for the Treatment of Narcolepsy with Cataplexy (Narcolepsy Type 1)
skipped — LLM skipped (--skip-llm)
- ctis·2024-514190-21-00·Authorised, ongoing·Long-term Follow-up (LTFU) Study of Participants in any iECURE Protocol Using an Investigational Product
skipped — LLM skipped (--skip-llm)
- ctis·2025-522964-33-00·Authorised·A Phase 4, Multicenter, Double-blind, Study to Investigate the Efficacy, Safety, and Tolerability of 3 Active Doses of Respreeza® / Zemaira® Weekly Intravenous Infusions Administered over 3 Years as Longterm Maintenance Therapy in Adult Subjects with Emphysema Related to Alpha1 Antitrypsin Deficiency
skipped — LLM skipped (--skip-llm)
- ctis·2024-519502-12-00·Authorised, ongoing·Bioavailability, Biopotency and Food effect study of SCD0503 compared to subcutaneous regular human insulin
skipped — LLM skipped (--skip-llm)
- ctis·2025-521589-83-00·Authorised·Reassessment of statin-associated musscle symptoms in adults with familial hypercholesterolemia: A phase IV randomized double-blinded n-of-1 crossover trial including periods with atorvastatin, placebo and no study treatment
skipped — LLM skipped (--skip-llm)
- ctis·2025-524635-39-00·Authorised·An Open Label, Single Arm, Phase I/II Clinical Study of Autologous CD4+ T-Cells Edited Ex-Vivo at the CD40LG Locus by CRISPR/Cas9 and IDLV-based vector in Patients with X-linked Hyper IgM Syndrome Type 1 (HIGM1)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524214-28-00·Authorised, recruiting·Randomized, Placebo-Controlled, Double-Blind, Phase 3b Study to Evaluate the Efficacy and Safety of Lerodalcibep in Children and Adolescents, 6 to 17 Years of Age, with Heterozygous Familial Hypercholesterolemia on Stable Diet and Oral Lipid-Lowering Therapy (LIBerate-Kids)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524265-24-00·Authorised, ongoing·A Double-Blind, Randomized, Comparative Study of Obicetrapib and Bempedoic Acid on top of Maximally Tolerated Lipid-Lowering Therapy in Patients With Dyslipidemia at High to Very High Cardiovascular Risk (MEDICI Study)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521154-42-00·Authorised, recruiting·Phase 2a, Multicenter, Randomized, Double-blind, Placebo-controlled Study to Assess the Safety of Anumigilimab (CSL324) in Adults with Sickle Cell Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-522957-20-00·Authorised, ongoing·A Phase 3, Randomized, Double-Blind, 48-Week Placebo-Controlled Study to Assess the Efficacy, Safety, and Tolerability of DYNE-101 Administered to Participants with Myotonic Dystrophy Type 1
skipped — LLM skipped (--skip-llm)
- ctis·2025-523978-16-00·Authorised, ongoing·A research study investigating the effect of NNC0497-0040 in healthy participants, participants with overweight or obesity, and participants with type 1 diabetes with overweight or obesity.
skipped — LLM skipped (--skip-llm)
- ctis·2025-521628-31-00·Authorised·A Phase 3 Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of Subcutaneous Nomlabofusp in Subjects with Friedreich’s Ataxia
skipped — LLM skipped (--skip-llm)
- ctis·2025-524298-18-00·11·A phase 2b, single-center, randomized, double-blind, placebo-controlled study to assess the efficacy and safety of oral Ladarixin in association with a single low dose of Antithymocyte Globulin in patients with new-onset autoimmune type 1 diabetes.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523996-45-00·Authorised, ongoing·The POST-PRANDIAL HYPO-AVOID STUDY
Low-Dose Glucagon and Automated Insulin Delivery for Prevention of Spontaneous Exercise-Induced
Hypoglycemia in People with Type 1 Diabetes
skipped — LLM skipped (--skip-llm)
- ctis·2025-524834-24-00·Authorised·IL-1β blockade to prevent Immunothrombosis in recipients of a Pancreatic Organ (ILIPO)
skipped — LLM skipped (--skip-llm)
- ctis·2023-507010-27-00·Authorised·CUSHMAH - Benefit of steroidogenesis inhibitors in Mild Cushing syndrome (Mild Autonomous Cortisol Secretion): a randomized trial in patients with Primary Bilateral Macronodular Adrenocortical Hyperplasia
skipped — LLM skipped (--skip-llm)
- ctis·2025-524679-22-00·Authorised, ongoing·Up-titration of sulfonylurea (SU) in individuals with HNF1A- and HNF4A-MODY – A Steno MODERN-MODY project (MM-SUUP)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524343-13-00·Authorised·Pilot study of the efficacy of nicotinamide (vitamin B3) in Leber's hereditary optic neuropathy - NICOLHON
skipped — LLM skipped (--skip-llm)
- ctis·2025-522383-33-00·Authorised, ongoing·A double blind, randomized, placebo-controlled exploratory trial to investigate the efficacy and safety of nerandomilast over 24 months when administered in individuals with interstitial lung abnormalities and a family history of pulmonary fibrosis to reduce the risk of worsening (DROP-FPF)
skipped — LLM skipped (--skip-llm)
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 with predominantly upper body involvement — 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 with predominantly upper body involvement" OR "episodic pain syndrome, familial, type 1") OR ("TRPA1" OR "TRPA1 syndrome" OR "TRPA1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial episodic pain syndrome with predominantly upper body involvement" OR "episodic pain syndrome, familial, type 1"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"familial episodic pain syndrome"
Query health: ok — strategies attempted: phrase; with hits: none
Parent literature probe: familial episodic pain syndrome (MONDO:0018319) — 208 hits
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 (13532) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T15:04:03.742Z