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

Completed

• Conditions: Alacrima; Achalasia

• Registration Number: NCT00856921
• Lead Sponsor: Asan Medical Center

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2008-04
• Primary Completion: 2009-01
• Status Verified: 2009-03
• Study Completion: 2009-03
• Study First Submitted: 2009-03-05
• Study First Submitted QC: 2009-03-05
• Last Update Submitted: 2009-03-05
• Study First Posted: 2009-03-06
• Last Update Posted: 2009-03-06

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 19

Inclusion Criteria

• early age onset
• primary achalasia patient
• less than 35 years old

Exclusion Criteria

• secondary achalasia patients

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Genetic relationship between achalasia and AAAS gene