We are updating the design of this site. Learn more.
Show more
ClinicalTrials.gov Menu

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

This study has been completed.
ClinicalTrials.gov Identifier:
First Posted: March 6, 2009
Last Update Posted: March 6, 2009
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.
Information provided by:
Asan Medical Center
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.

Achalasia Alacrima

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

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)

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Ages Eligible for Study:   Child, Adult, Senior
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
  Contacts and Locations
No Contacts or Locations Provided
  More Information

Responsible Party: Kee Wook Jung, Asan Medical Center
ClinicalTrials.gov Identifier: NCT00856921     History of Changes
Other Study ID Numbers: AAASachalasia
First Submitted: March 5, 2009
First Posted: March 6, 2009
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