ORPHA:43393
Lambert-Eaton myasthenic syndrome
Publications
6,050
91.9th percentile
Trials
7
Interventional, condition-specific
Researchers
1,000
Distinct authors in sample
Gene link
—
Readiness
5/6
Stages with a signal
Clinical definition (Orphanet)
Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC).
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018556
- MeSH:D015624
- UMLS:C0022972
- NCIT:C3155
Additional Mondo synonyms (7)
Eaton Lambert syndrome · Eaton-Lambert syndrome · Lambert Eaton myasthenic syndrome · Lambert Eaton syndrome · Lambert-Eaton syndrome · myasthenic syndrome of Lambert-Eaton · myasthenic-myopathic syndrome of Lambert-Eaton
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.”
5/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
6,050 matched papers (2,877 in last 10 years) Source
- Phenotype characterisedPresent
16 HPO annotations (e.g. EMG: repetitive nerve stimulation abnormality; Calcium channel antibody positivity; Keratoconjunctivitis sicca) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- Orphan designationPartial
2 FDA · 1 EMA designations (none yet with FDA orphan-indication approval) — e.g. amifampridine phosphate Source
- Interventional trialPresent
7 matched on ClinicalTrials.gov (1 recruiting in sample)
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)
16
Associated phenotypes · MONDO:0018556
- EMG: repetitive nerve stimulation abnormality
- Calcium channel antibody positivity
- Keratoconjunctivitis sicca
- Xerostomia
- Diminished deep tendon reflex
Showing 5 of 16 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Cacna1atg-rol/Cacna1atg-rol [background:] involves: C57BL/6 * SIII·MGI:3624868·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)
3
Designations · no FDA orphan-indication approval yet
- FDA amifampridine phosphate (FIRDAPSE)Lambert-Eaton Myasthenic Syndrome · 2009-11-12
- FDA amifampridine (Ruzurgi)Lambert-Eaton Myasthenic Syndrome · 1990-12-18
- EMA 3,4-diaminopyridine phosphate (amifampridine)Treatment of Lambert-Eaton myasthenic syndrome · 19/12/2002 · WithdrawnEMA designation
Sources: FDA OOPD · EMA orphan designations
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
1 associated chemical. Therapeutic evidence is listed first when present — not a treatment recommendation.
- Diltiazem · marker/mechanism
Literature
Is anyone studying this?
6,050
6,050 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.
6,050 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).
2,877 in the last 10 years · high confidence · 91.9th percentile (publications denominator)
Phrase hits: 6,050 · MeSH hits: 0
Who's working on it?
1,000
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.
- 01Motomura M5 papers · 2026
Medical Engineering Course, Department of Engineering, The faculty of Engineering, Nagasaki Institute of Applied Science.
Papers in Europe PMC - 02Chen Y4 papers · 2026
Department of Neurology, Affiliated Hospital of Jining Medical University, Jining, Shandong Province, China.
Papers in Europe PMC - 03Zhang J4 papers · 2026
The Third Central Clinical College of Tianjin Medical University Tianjin 300170, China.
Papers in Europe PMC - 04Cordeiro C3 papers · 2025
Department of Neurosciences and Mental Health, Hospital de Santa Maria-Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.
Papers in Europe PMC - 05Evoli A3 papers · 2026
Department of Neurology, Catholic University, Rome, Italy.
Papers in Europe PMC - 06
- 07Mougiakakos D3 papers · 2025
Department of Haematology, Oncology, and Cell Therapy, Otto von Guericke University Magdeburg, 39120 Magdeburg, Germany.
Papers in Europe PMC - 08Randall DP3 papers · 2025
Neuromuscular Neurology, Advocate Health, 1850 Dempster Street, Park Ridge, IL, 60068, USA. david.randall2@aah.org.
Papers in Europe PMC - 09Shimizu F3 papers · 2026
Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Ube, JPN.
Papers in Europe PMC - 10Siopa C3 papers · 2025
Department of Neurosciences and Mental Health, Hospital de Santa Maria-Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
7
interventional trials for this specific condition
7 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 11 September 2026
7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).
high confidence · 90.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
7 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07478172·RECRUITING·Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Not reviewed·Conditions: Neuromuscular Diseases (NMD) · Amyotrophic Lateral Sclerosis · Myasthenia Gravis · Lambert-eaton Myasthenic Syndrome·Matched via name phrase
Observational and natural-history studies
4 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
- NCT06605612·ENROLLING BY INVITATION·Development and Validation of the FBIndex to Determine the Risk of Falls for Patients With Neuromuscular Disorders
Not reviewed·Conditions: Inclusion Body Myositis · Myotonic Dystrophy · Limb-girdle and Facioscapulohumeral Muscular Dystrophies · Pompe Disease·Matched via name phrase
- NCT07075627·NOT YET RECRUITING·A Study to Evaluate the Incidence of Clinically Suspicious Lambert-Eaton Myasthenic Syndrome (LEMS) in Subjects Diagnosed With Small Cell Lung Cancer (SCLC)
Not reviewed·Conditions: Small Cell Lung Cancer ( SCLC ) · Lambert Eaton Myasthenic Syndrome (LEMS)·Matched via name phrase
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 7 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · dropped 0 · fetched 2026-07-29
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 (7)
- isrctn·ISRCTN81508784·No longer recruiting·Botulinum toxin in the treatment of orofacial tardive dyskinesias: a single blind study
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN14932955·No longer recruiting·A split-face study comparing intradermal botulinum toxin A with and without hyaluronic acid biorevitalization for facial rejuvenation
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN90354265·No longer recruiting·Is neuromodulation with botulinum toxin type A an alternative treatment for chronic anal fissure?
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN12633596·No longer recruiting·A study to test mirvetuximab soravtansine in women with platinum sensitive, advanced epithelial ovarian, primary peritoneal, or fallopian tube cancers.
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN57435427·No longer recruiting·Is it clinically effective to treat arm flexor spasticity, with Botulinum toxin - type A (BoNTA) and physiotherapy, as soon as signs of abnormal muscle activity are observed?
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN32422510·No longer recruiting·A randomized, double-blind, placebo-controlled, multicenter trial to evaluate the clinical efficacy of a single intrapyloric injection of botulinum toxin type A (Botox®) in patients with idiopathic gastroparesis. The BIG study.
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN26091555·No longer recruiting·Randomised trial of detrusor botulinum toxin injection compared to placebo in idiopathic detrusor overactivity
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 Lambert-Eaton myasthenic 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.
"Lambert-Eaton myasthenic syndrome" OR "Eaton Lambert syndrome" OR "Eaton-Lambert syndrome" OR "Lambert Eaton myasthenic syndrome" OR "Lambert Eaton syndrome" OR "Lambert-Eaton syndrome" OR "myasthenic syndrome of Lambert-Eaton" OR "myasthenic syndrome of the Lambert-Eaton" OR "myasthenic-myopathic syndrome of Lambert-Eaton" OR "myasthenic-myopathic syndrome of the Lambert-Eaton"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Lambert-Eaton myasthenic syndrome" OR "Eaton Lambert syndrome" OR "Eaton-Lambert syndrome" OR "Lambert Eaton myasthenic syndrome" OR "Lambert Eaton syndrome" OR "Lambert-Eaton syndrome" OR "myasthenic syndrome of Lambert-Eaton" OR "myasthenic syndrome of the Lambert-Eaton" OR "myasthenic-myopathic syndrome of Lambert-Eaton" OR "myasthenic-myopathic syndrome of the Lambert-Eaton"
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: 7 interventional · 4 observational · 8 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
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
Ingested 2026-07-27T00:06:56.770Z