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

To Find Out the Genetic Relationship Between the Early-Onset Achalasia and AAAS Gene

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00856921

Acronym

AAAS

Enrollment

Registered

2009-03-06

Start date

2008-04-30

Completion date

2009-03-31

Last updated

2009-03-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Achalasia, Alacrima

Keywords

Relationship between achalasia and AAAS gene

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion criteria

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

Exclusion criteria

* secondary achalasia patients

Design outcomes

Primary

Measure	Time frame
Genetic relationship between achalasia and AAAS gene	—

Outcome results