ORPHA:716816
Congenital myasthenic syndrome with primary acetylcholine receptor deficiency
Also known as: CMS with primary AChR deficiency · CMS with primary acetylcholine receptor deficiency · Primary AChR deficiency · Primary acetylcholine receptor deficiency
Publications
31
Trials
0
Interventional, condition-specific
Researchers
110
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
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.”
1/6 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
31 matched papers (21 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
31
31 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=5449) is 41.
31 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).
21 in the last 10 years · low confidence
Phrase hits: 31 · MeSH hits: 0
Who's working on it?
110
Distinct author names in 31 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.
- 01Engel AG10 papers · 2018
Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA. age@mayo.edu
Papers in Europe PMC - 02Beeson D7 papers · 2024
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.
Papers in Europe PMC - 03Shen XM6 papers · 2018
Department of Neurology, Mayo Clinic, Rochester, Minnesota.
Papers in Europe PMC - 04Selcen D5 papers · 2018
Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA.
Papers in Europe PMC - 05Lochmüller H4 papers · 2023
John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK.
Papers in Europe PMC - 06Palace J3 papers · 2023
University of Oxford and Department of Neurology, Oxford Radcliffe Hospitals, Oxford OX3 9DU, UK.
Papers in Europe PMC - 07Rodríguez Cruz PM3 papers · 2023
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.
Papers in Europe PMC - 08Bi FF2 papers · 2022
Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Papers in Europe PMC - 09Guo LT2 papers · 2020
Department of Pathology, School of Medicine, University of California San Diego, La Jolla, California.
Papers in Europe PMC - 10Huang K2 papers · 2022
Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
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.
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.
"Congenital myasthenic syndrome with primary acetylcholine receptor deficiency" OR "CMS with primary AChR deficiency" OR "CMS with primary acetylcholine receptor deficiency" OR "Primary AChR deficiency" OR "Primary acetylcholine receptor deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital myasthenic syndrome with primary acetylcholine receptor deficiency" OR "CMS with primary AChR deficiency" OR "CMS with primary acetylcholine receptor deficiency" OR "Primary AChR deficiency" OR "Primary acetylcholine receptor deficiency"
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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- No Orphanet definition and no Mondo IDs — likely taxonomy scaffolding; confidence capped at low
Ingested 2026-07-27T21:12:09.329Z