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

Achalasia Clinical Trial

— AAAS  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00856921
• Other study ID #: AAASachalasia
• Status: Completed
• Phase: N/A
• First received: March 5, 2009
• Last updated: March 5, 2009
• Start date: April 2008
• Est. completion date: March 2009

Study information

• Verified date: March 2009
• Source: Asan Medical Center
• Contact: n/a
• Is FDA regulated: No
• Health authority: Korea: Food and Drug Administration
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 19
• Est. completion date: March 2009
• Est. primary completion date: January 2009
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• early age onset

• primary achalasia patient

• less than 35 years old

Exclusion Criteria:

• secondary achalasia patients

Study Design

Observational Model: Case-Only, Time Perspective: Retrospective

Related Conditions & MeSH terms

• Achalasia
• Alacrima
• Esophageal Achalasia

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Asan Medical Center

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Genetic relationship between achalasia and AAAS gene			Yes