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

This study has been completed.

Sponsor:

Information provided by:

Asan Medical Center

ClinicalTrials.gov Identifier:

NCT00856921

First received: March 5, 2009

Last updated: NA

Last verified: March 2009

History: No changes posted

Purpose

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
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:

MedlinePlus related topics: Genes and Gene Therapy

Genetic and Rare Diseases Information Center resources: Achalasia Cardiospasm

U.S. FDA Resources

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)

Eligibility


Ages Eligible for Study:	Child, Adult, Senior
Genders Eligible for Study:	Both
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

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, see Learn About Clinical Studies.

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
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

ClinicalTrials.gov processed this record on September 29, 2016

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