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

NCT ID: NCT00856921

Last Updated: 2009-03-06

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 19 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2008-04-30
• Study Completion Date: 2009-03-31

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.

Conditions

Achalasia; Alacrima

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: RETROSPECTIVE

Eligibility Criteria

Inclusion Criteria

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

Exclusion Criteria

• secondary achalasia patients

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Asan Medical Center

OTHER

Sponsor Role: lead

Responsible Party

Asan Medical Center

Other Identifiers

AAASachalasia

Identifier Type: -

Identifier Source: org_study_id