Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
CompletedNCT01914003
View the official record on ClinicalTrials.gov Recruiting status changes often. Contact the study team listed on ClinicalTrials.gov, and talk to your doctor before joining a study.
This study has no listed site in Canada in this snapshot. It is included as part of the worldwide chronic pain corpus.
Brief summary (from the registry)
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.
Study details
- 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 in Children With Chronic Diarrhea or Chronic Abdominal Pain
- Conditions
- Congenital Sucrase-isomaltase Deficiency (CSID)
- Sponsor
- QOL Medical, LLC
- Collaborators
- Arnold Palmer Hospital for Children; Baylor College of Medicine; Nationwide Children's Hospital; Ann & Robert H Lurie Children's Hospital of Chicago; University of Mississippi Medical Center; Children's Hospital and Research Center at Oakland; Columbia University; Children's Hospital Los Angeles; Children's Hospital and Health System Foundation, Wisconsin; Children's Center for Digestive Healthcare, LLC; Massachusetts General Hospital; Duke University; Johns Hopkins University; Children's Hospital of Philadelphia; Children's Mercy Hospital Kansas City; Children's Hospital Colorado; Riley Children's Hospital; Primary Children's Hospital; State University of New York - Downstate Medical Center
- Start date
- 2013-05
- Primary completion
- 2015-05
- Sex
- All
- Age range
- to 18 Years
- Results posted
- Yes, on ClinicalTrials.gov
- Countries
- United States
- Total sites listed
- 19
Eligibility criteria
Show eligibility criteria (verbatim from the registry)
Inclusion Criteria: * Must be 18 years of age or younger. * A primary clinical diagnosis of chronic idiopathic diarrhea or chronic abdominal pain for at least 4 weeks. * English or Spanish speaking subjects and parent(s)/guardian only. * Parental consent from one parent/guardian and also subject assent when appropriate based on individual IRB requirements. Exclusion Criteria: * Any condition(s) or finding(s) that in the opinion of the principal investigator suggests an alternative diagnosis for his/her gastrointestinal symptoms. * Abdominal pain primarily related to constipation. * Suspected gastrointestinal infectious disease. * No current use of sacrosidase (Sucraid® Oral Solution). * Known gastrointestinal disease such as celiac disease. * Prior consumption of an investigational medication within the last 4 weeks. * Antibiotics in the last 2 weeks, and no history of viral gastroenteritis within that same period of time. * Known Hepatitis B or C infection (positive HBsAg or HCV within 6 months of enrollment) or Subject-Pugh Class C liver disease of any cause, HIV infection, tuberculosis, Clostridia difficile co-infection, cancer or systemic infections. * Severe neurologic impairment that would prevent them from reporting a history of abdominal pain. * Receiving or received biologic therapies (including infliximab, adalimumab, natalizumab) within 3 months prior to or at enrollment. * Present or past use of immune modulators therapy (e.g., azathioprine, 6MP, methotrexate). * Planned or previous abdominal surgery (e.g., bowel resection). * Subjects with severe, uncontrolled systemic diseases. * Presence of clinical alarm signs, including hypotension, anemia requiring blood transfusions, altered mental status, or inability to tolerate food and/or fluids by mouth.
Source: ClinicalTrials.gov (US National Library of Medicine), snapshot October 2026. Check the registry for current recruiting status. Record: https://clinicaltrials.gov/study/NCT01914003