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

Genetic Evaluation of AAAS Gene in Early-Onset Achalasia and Alacrima Patients
This study has been completed.

First Received on March 5, 2009.  
No Changes Posted
Sponsor: Asan Medical Center
Information provided by: Asan Medical Center Identifier: NCT00856921

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.


Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: To Find Out the Genetic Relationship Between the Early-Onset Achalasia and AAAS Gene

Resource links provided by NLM:

Further study details as provided by Asan Medical Center:

Primary Outcome Measures:

  • Genetic relationship between achalasia and AAAS gene [ Designated as safety issue: Yes ]

Biospecimen Retention:   Samples With DNA

DNA and genetic analysis

Enrollment: 19
Study Start Date: April 2008
Study Completion Date: March 2009
Primary Completion Date: January 2009 (Final data collection date for primary outcome measure)


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Early age onset achalasia


Inclusion Criteria:

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

Exclusion Criteria:

  • secondary achalasia patients
  Contacts and Locations

No Contacts or Locations Provided

  More Information

No publications provided

Responsible Party: Kee Wook Jung, Asan Medical Center Identifier: NCT00856921    
History of Changes
Other Study ID Numbers: AAASachalasia
Study First Received: March 5, 2009
Last Updated: March 5, 2009
Health Authority: Korea: Food and Drug Administration

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 processed this record on August 21, 2012

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