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
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Sponsor:
Asan Medical Center
Information provided by:
Asan Medical Center
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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 |
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Achalasia Alacrima |
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

MedlinePlus related topics:
Genes and Gene Therapy
Primary Outcome Measures :
- 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
Criteria
Inclusion Criteria:
- early age onset
- primary achalasia patient
- less than 35 years old
Exclusion Criteria:
- secondary achalasia patients
No Contacts or Locations Provided
Responsible Party: | Kee Wook Jung, Asan Medical Center |
ClinicalTrials.gov 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:
Esophageal Achalasia Esophageal Motility Disorders Deglutition Disorders |
Esophageal Diseases Gastrointestinal Diseases Digestive System Diseases |