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

Sponsor
Asan Medical Center (Other)
Overall Status
Completed
CT.gov ID
NCT00856921
Collaborator
(none)
19
11

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Actual Enrollment :
    19 participants
    Observational Model:
    Case-Only
    Time Perspective:
    Retrospective
    Official Title:
    To Find Out the Genetic Relationship Between the Early-Onset Achalasia and AAAS Gene
    Study Start Date :
    Apr 1, 2008
    Actual Primary Completion Date :
    Jan 1, 2009
    Actual Study Completion Date :
    Mar 1, 2009

    Outcome Measures

    Primary Outcome Measures

    1. Genetic relationship between achalasia and AAAS gene []

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    Inclusion Criteria:
    • early age onset

    • primary achalasia patient

    • less than 35 years old

    Exclusion Criteria:
    • secondary achalasia patients

    Contacts and Locations

    Locations

    No locations specified.

    Sponsors and Collaborators

    • Asan Medical Center

    Investigators

    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    , ,
    ClinicalTrials.gov Identifier:
    NCT00856921
    Other Study ID Numbers:
    • AAASachalasia
    First Posted:
    Mar 6, 2009
    Last Update Posted:
    Mar 6, 2009
    Last Verified:
    Mar 1, 2009
    Keywords provided by , ,
    Additional relevant MeSH terms:

    Study Results

    No Results Posted as of Mar 6, 2009