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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00856921
Recruitment Status : Completed
First Posted : March 6, 2009
Last Update Posted : March 6, 2009
Information provided by:
Asan Medical Center

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

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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

Resource links provided by the National Library of Medicine

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

Biospecimen Retention:   Samples With DNA
DNA and genetic analysis

Information from the National Library of Medicine

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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

Inclusion Criteria:

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

Exclusion Criteria:

  • secondary achalasia patients
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Responsible Party: Kee Wook Jung, Asan Medical Center Identifier: NCT00856921    
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:
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Esophageal Achalasia
Esophageal Motility Disorders
Deglutition Disorders
Esophageal Diseases
Gastrointestinal Diseases
Digestive System Diseases