Achalasia

Summary

Achalasia (MONDO:0008698) is a disease and 110 clinical trials. Top therapeutic interventions include botulinum toxin type a, atropine, and ceftazidime. A subtype of esophageal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• ClinVar variants: 1
• Clinical trials: 110

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	achalasia
Mondo ID	MONDO:0008698
DOID	DOID:9164
ICD-10-CM	K22.0
ICD-11	636464846
SNOMED CT	235630008
UMLS	C0014848
MedGen	5023
Is cancer (heuristic)	no

Also known as: achalasia · achalasia (disease) · achalasia of cardia · achalasia of oesophagus · cardiospasm · esophageal achalasia

Data availability: 1 ClinVar variant · 1 HPO phenotype.

Disease family

This is a subtype of esophageal disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › upper digestive tract disorder › esophageal disorder › achalasia

Related subtypes (19): esophageal atresia, esophageal varices, esophagitis, megaesophagus, esophageal tuberculosis, esophageal leukoplakia, dyskinesia of esophagus, esophageal diverticulosis, gastroesophageal reflux disease, esophageal atresia/tracheoesophageal fistula, Barrett esophagus, esophageal duplication cyst, tubular duplication of the esophagus, laryngotracheoesophageal cleft, isolated tracheo-esophageal fistula, congenital esophageal diverticulum, neoplasm of esophagus, esophageal ulcer, congenital esophageal stenosis

Subtypes (2): idiopathic achalasia, achalasia, familial esophageal

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
267828	46;XY;t(7;19)(q32;q13.1)dn		Pathogenic	criteria provided, single submitter

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 110.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	91
PHASE4	7
PHASE2	5
PHASE2/PHASE3	2
PHASE3	2
PHASE1/PHASE2	2
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03654066	PHASE4	ENROLLING_BY_INVITATION	Botox or Botox With Esophageal Dilation in Patients With Achalasia
NCT04641702	PHASE4	RECRUITING	Comprehensive Esophageal Diagnostics Study
NCT05550194	PHASE4	RECRUITING	VZV in the Enteric Nervous System: Pathogenesis and Consequences
NCT00204763	PHASE4	TERMINATED	Comparison of Esophageal and Anorectal Manometry Catheters
NCT01570621	PHASE4	UNKNOWN	Personalized Peroral Endoscopic Myotomy for Achalasia
NCT01903486	PHASE4	WITHDRAWN	Assessing the Efficacy of Steroid Treatment of Achalasia
NCT04177342	PHASE4	UNKNOWN	Post Operative Pain Control of POEM Procedure
NCT06189859	PHASE3	RECRUITING	Electrosurgical Modes for Endoscopic Submucosal Dissection in Peroral Endoscopic Esophageal Myotomy
NCT06721520	PHASE2/PHASE3	RECRUITING	Effectiveness of Methods for Pyloric Drainage in esophagecTomY: Botox vs. Pyloromyotomy
NCT07425977	PHASE3	NOT_YET_RECRUITING	Transverse vs Longitudinal Mucosal Incision During POEM
NCT03404739	PHASE2/PHASE3	UNKNOWN	Single- Versus Multiple-dose Antimicrobial Prophylaxis for The Prevention of Infectious Complications Associated With Peroral Endoscopic Myotomy(POEM) for Achalasia
NCT00790465	PHASE1/PHASE2	UNKNOWN	Efficacy of Dark Chocolate in Achalasia Patients
NCT01302288	PHASE2	UNKNOWN	Endolumenal Partial Myotomy for the Treatment of Esophageal Achalasia
NCT01524471	PHASE2	UNKNOWN	Per-Oral Endoscopic Myotomy (P.O.E.M.) for Treatment of Primary Esophageal Motility Disorders
NCT01873300	PHASE1/PHASE2	COMPLETED	Endoscopic Myotomy for the Treatment of Achalasia (Motility Disorder) of the Esophagus - POEM Procedure
NCT02086669	PHASE2	COMPLETED	Pneumatic Dilatation or Surgical Myotomy for Achalasia
NCT02259283	PHASE2	COMPLETED	Prospective Study on the Feasibility and Results of POEM in Idiopathic Achalasia
NCT02931565	PHASE2	TERMINATED	Study of IW-1701, A Stimulator of Soluble Guanylate Cyclase (sGC), in Patients With Type I or II Achalasia
NCT03411252	EARLY_PHASE1	TERMINATED	Mirabegron in Achalasia: A Clinical and Manometric Proof of Concept Pilot Study
NCT00260585	Not specified	RECRUITING	Esophageal Cancer Risk Registry
NCT01799967	Not specified	ACTIVE_NOT_RECRUITING	Minimally Invasive Surgery of the Gastro-esophageal Junction
NCT02518542	Not specified	RECRUITING	Per Oral Endoscopic Myotomy (POEM) and Prolonged Dilatation (PRD) for Achalasia
NCT02770859	Not specified	ENROLLING_BY_INVITATION	Per-Oral Endoscopic Myotomy (POEM) for the Treatment of Achalasia, Database Repository
NCT03123835	Not specified	ENROLLING_BY_INVITATION	Outcome Analysis of POEM and Endoluminal Therapies
NCT04065516	Not specified	ENROLLING_BY_INVITATION	ARAT for Reflux Disease After Peroral Endoscopic Myotomy in Patients With Achalasia
NCT04180241	Not specified	ACTIVE_NOT_RECRUITING	Development of Endoscopic Treatment for Achalasia
NCT04578769	Not specified	RECRUITING	Assessment of Different Modified POEM for Achalasia
NCT05080634	Not specified	RECRUITING	Analysis of Prevalence and Risk Factors Associated With Gastroesophageal Reflux Disease and Esophagitis After Peroral Endoscopic Myotomy
NCT05899842	Not specified	RECRUITING	Routine Versus Symptomatic Protein Pump Inhibitor Therapy for Prevention of Gastroesophageal Reflux After Per Oral Endoscopic Myotomy for Esophageal Achalasia
NCT05905016	Not specified	RECRUITING	Prospective Evaluation of the Clinical Utility of Peroral Endoscopic Myotomy for Gastrointestinal Motility Disorders
NCT06027190	Not specified	NOT_YET_RECRUITING	Randomized Controlled Study of Optical 3D Navigated Repetitive Transcranial Magnetic Stimulation for Achalasia.
NCT06042127	Not specified	RECRUITING	POEM-F for Achalasia International Study
NCT06230536	Not specified	RECRUITING	MARIMPACH : Contribution of High-resolution Manometry With Impedancemetry for the Evaluation of Esophageal Clearance in Achalasia
NCT06405412	Not specified	RECRUITING	Effects of Malnutrition on Respiratory and Renal Functions in Patients Undergoing Peroral Endoscopic Myotomy (POEM)
NCT06738628	Not specified	NOT_YET_RECRUITING	Disposable Endoscope Platform in Third Space Endoscopic Procedures
NCT07181070	Not specified	RECRUITING	The Use of Indocyanine Green Fluorescence (ICG) During Laparoscopic Heller- Dor
NCT07406945	Not specified	RECRUITING	Safety and Efficacy of a Novel SpydrBlade Flexible Bipolar in POEM
NCT07496840	Not specified	RECRUITING	Clinical Outcomes, Safety, and Effectiveness of Speedboat UltraSlim™ in Per-Oral Endoscopic Myotomy (POEM)
NCT07506746	Not specified	RECRUITING	PRospective Registry of Esophageal Motility
NCT00004416	Not specified	COMPLETED	Randomized Study of Botulinum Toxin Type A for Achalasia

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BOTULINUM TOXIN TYPE A	4	2
ATROPINE	4	1
CEFTAZIDIME	4	1
CEFTOLOZANE	4	1
OXYCODONE	4	1
VALACYCLOVIR	4	1
VARICELLA ZOSTER VIRUS ENVELOPE GLYCOPROTEIN E	4	1
BARIUM	3	1
CEPHALOSPORIN	3	1
COCOA	3	1
OLINCIGUAT	2	1
CHEMBL4557433	0	1
CHEMBL4740200	0	1
AMYL NITRITE	-1	1
CEPHALOSPORIN C	-1	1