NCT00856921

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

To Find Out the Genetic Relationship Between the Early-Onset Achalasia and AAAS Gene

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 19 (actual)
• Sponsor: Asan Medical Center · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• Achalasia
• Alacrima

Timeline

• Start date: 2008-04-01
• Primary completion: 2009-01-01
• Completion: 2009-03-01
• First posted: 2009-03-06
• Last updated: 2009-03-06