NCT01914003

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

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 in Children With Chronic Diarrhea or Chronic Abdominal Pain

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 53 (actual)
• Sponsor: QOL Medical, LLC · Industry
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Congenital Sucrase-isomaltase Deficiency (CSID)

Timeline

• Start date: 2013-05-01
• Primary completion: 2015-05-01
• Completion: 2015-07-01
• First posted: 2013-08-01
• Last updated: 2017-11-06
• Results posted: 2016-10-10

Locations

19 sites across 1 country: United States