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

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ClinicalTrials.gov Identifier: NCT00856921
Recruitment Status : Completed
First Posted : March 6, 2009
Last Update Posted : March 6, 2009
Sponsor:
Information provided by:
Asan Medical Center

Study Description
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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
Achalasia Alacrima

Study Design
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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 : April 2008
Actual Primary Completion Date : January 2009
Actual Study Completion Date : March 2009

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Groups and Cohorts
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Outcome Measures
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Primary Outcome Measures :
  1. Genetic relationship between achalasia and AAAS gene

Biospecimen Retention:   Samples With DNA
DNA and genetic analysis

Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Early age onset achalasia
Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • secondary achalasia patients
Contacts and Locations
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No Contacts or Locations Provided
More Information
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Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Responsible Party: Kee Wook Jung, Asan Medical Center
ClinicalTrials.gov Identifier: NCT00856921     History of Changes
Other Study ID Numbers: AAASachalasia
First Posted: March 6, 2009    Key Record Dates
Last Update Posted: March 6, 2009
Last Verified: March 2009

Keywords provided by Asan Medical Center:
Relationship between achalasia and AAAS gene

Additional relevant MeSH terms:
Esophageal Achalasia
Esophageal Motility Disorders
Deglutition Disorders
 Esophageal Diseases
Gastrointestinal Diseases
Digestive System Diseases