Genetic Evaluation of AAAS Gene in Early-Onset Achalasia and Alacrima Patients

Asan Medical Center19 enrolled

Overview

The AAAS gene has been known to cause achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. A considerable proportion of achalasia patients have been known to show alacrima (decreased secretion of tears). However, the genetic mechanism between achalasia and alacrima has not been defined yet. The investigators postulated that some proportions of early-onset achalasia could be correlated with AAAS gene; thus, the investigators aimed to investigate the relationship between the AAAS gene and early-onset achalasia.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Achalasia Alacrima

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: * early age onset * primary achalasia patient * less than 35 years old Exclusion Criteria: * secondary achalasia patients

Outcomes

Primary Outcomes

Genetic relationship between achalasia and AAAS gene

Data from ClinicalTrials.gov

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