Disease · MONDO_0018940

congenital myasthenic syndrome

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. congenital myasthenic syndrome. Diseases, record MONDO_0018940. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0018940

On this page

Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: congenital myasthenic syndrome; Open Targets
Open Targets ID: MONDO_0018940; Open Targets
Other names: CMS, Congenital Myasthenic Syndromes, myasthenic syndrome, congenital; Open Targets
Disease Ontology: DOID:3635; Disease Ontology
MeSH: D020294; MeSH
NCI Thesaurus: C84647; NCI Thesaurus
Orphanet: ORPHA:590; Orphanet
Highest stage of its drugs: Approval, for 2 of its 5 drugs, from ClinicalTrials.gov; Open Targets

Drugs5

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
AMIFAMPRIDINE	CHEMBL354077	Small molecule	Approval	ClinicalTrials.gov	4	4	1	Drugs and targets
AMIFAMPRIDINE PHOSPHATE	CHEMBL3301611	Small molecule	Approval	ClinicalTrials.gov	2	2	2	Drugs and targets
EPHEDRINE	CHEMBL211456	Small molecule	Phase 1/2	ClinicalTrials.gov	1	1	1	Drugs and targets
ALBUTEROL	CHEMBL714	Small molecule	Phase 1	ClinicalTrials.gov	1	1	1	Drugs and targets
ARGX-119	CHEMBL6068571	Antibody	Phase 1	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets49

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
ADRB2	Adrenergic receptor	2	Adrenergic receptor agonist; Beta-2 adrenergic receptor agonist	Phase 1/2	https://conductscience.org/library/genes/154	Drugs and targets
KCNA1	Voltage-gated potassium channel	2	Voltage-gated potassium channel blocker	Approval	https://conductscience.org/library/genes/3736	Drugs and targets
KCNA10	Voltage-gated potassium channel	2	Voltage-gated potassium channel blocker	Approval	https://conductscience.org/library/genes/3744	Drugs and targets
KCNA2	Voltage-gated potassium channel	2	Voltage-gated potassium channel blocker	Approval	https://conductscience.org/library/genes/3737	Drugs and targets
KCNA3	Voltage-gated potassium channel	2	Voltage-gated potassium channel blocker	Approval	https://conductscience.org/library/genes/3738	Drugs and targets
KCNA4	Voltage-gated potassium channel	2	Voltage-gated potassium channel blocker	Approval	https://conductscience.org/library/genes/3739	Drugs and targets
KCNA5	Voltage-gated potassium channel	2	Voltage-gated potassium channel blocker	Approval	https://conductscience.org/library/genes/3741	Drugs and targets
KCNA6	Voltage-gated potassium channel	2	Voltage-gated potassium channel blocker	Approval	https://conductscience.org/library/genes/3742	Drugs and targets
KCNA7	Voltage-gated potassium channel	2	Voltage-gated potassium channel blocker	Approval	https://conductscience.org/library/genes/3743	Drugs and targets
KCNB1	Voltage-gated potassium channel	2	Voltage-gated potassium channel blocker	Approval	https://conductscience.org/library/genes/3745	Drugs and targets

1 to 10 of 49

See all 49 targets

Trials6

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs. 3 more are not shown, since the checks do not confirm them.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT02562066	Amifampridine Phosphate for the Treatment of Congenital Myasthenic Syndromes	Phase 3	20	2021-04-02	Myasthenic Syndromes, Congenital	AMIFAMPRIDINE PHOSPHATE	Its record names the disease	ClinicalTrials.gov
NCT01203592	Efficacy of Albuterol in the Treatment of Congenital Myasthenic Syndromes	Phase 1	21		Congenital Myasthenic Syndrome	ALBUTEROL	Its record names the disease	ClinicalTrials.gov
NCT00541216	Ephedrine for the Treatment of Congenital Myasthenia	Phase 1/2	15		Myasthenic Syndromes, Congenital	EPHEDRINE	Open Targets' reading of its record	ClinicalTrials.gov
NCT06436742	A Phase 1b Study to Investigate Safety and Tolerability of ARGX-119 in Adult Participants With DOK7-Congenital Myasthenic Syndromes (CMS)	Phase 1	15		Congenital Myasthenic Syndrome, CMS	ARGX-119	Its record names the disease	ClinicalTrials.gov
NCT01765140	Treatment Use of 3,4-Diaminopyridine				Myasthenic Syndromes, Congenital	AMIFAMPRIDINE	Its record names the disease	ClinicalTrials.gov
NCT02189720	Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS),Congenital Myasthenic Syndrome				Congenital Myasthenic Syndrome, Lambert-Eaton Myasthenic Syndrome, Nystagmus, Acquired	AMIFAMPRIDINE PHOSPHATE	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials2

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
Amifampridine Phosphate vs Placebo: deaths from any cause	0 of 20	0 of 20	40	NCT02562066	Trial comparisons
Amifampridine Phosphate vs Placebo: serious adverse events	1 of 20	1 of 20	40	NCT02562066	Trial comparisons

Papers from its trials1

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it
29280483	RESULT	1

Source PubMed

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0018940

GET https://conductscience.org/api/diseases/v1/MONDO_0018940/targets?page=2

API reference For AI assistants