Clinical Trial: Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: A Multi-Center Study of the Prevalence of Known Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Variants and Functional Sucrase Activity by 13C-Sucrose Breath Test

Brief Summary: Congenital sucrose-isomaltase deficiency (CSID) is a rare, genetic disease in which mutations in the sucrose-isomaltase (SI) gene cause digestion problems of sucrose resulting in diarrhea and abdominal pain. Children with chronic, idiopathic diarrhea or abdominal pain will have their sucrose-isomaltase gene assessed for a panel of known CSID mutations to determine the prevalence of these mutations in an enriched population and also determine functional deficiency using a breath test.

Detailed Summary:
Sponsor: QOL Medical, LLC

Current Primary Outcome: Prevalence of CSID Genetic Variants [ Time Frame: 1 year ]

Prevalence of CSID genetic variants in subjects 18 years of age or younger with a primary symptom of chronic idiopathic diarrhea or chronic abdominal pain without constipation.


Original Primary Outcome: Prevalence of CSID Genetic Variants [ Time Frame: 1 year ]

Determine the prevalence of CSID genetic variants in subjects 18 years of age or younger with a primary symptom of chronic idiopathic diarrhea or chronic abdominal pain without constipation.


Current Secondary Outcome:

Original Secondary Outcome:

Information By: QOL Medical, LLC

Dates:
Date Received: July 22, 2013
Date Started: May 2013
Date Completion:
Last Updated: August 16, 2016
Last Verified: August 2016