Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
- Conditions
- Congenital Sucrase-isomaltase Deficiency (CSID)
- Registration Number
- NCT01914003
- Lead Sponsor
- QOL Medical, LLC
- 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 Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 53
- 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.
- 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.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Prevalence of CSID Genetic Variants 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.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (19)
Children's Hospital of Colorado
🇺🇸Aurora, Colorado, United States
Children's Center for Digestive Healthcare
🇺🇸Atlanta, Georgia, United States
Stony Brook University
🇺🇸Stony Brook, New York, United States
Children's Hospital and Research Center of Oakland
🇺🇸Oakland, California, United States
Arnold Palmer Children's Hospital
🇺🇸Orlando, Florida, United States
Ann & Robert H. Lurie Children's Hospital of Chicago
🇺🇸Chicago, Illinois, United States
Riley Hospital for Children
🇺🇸Indianapolis, Indiana, United States
Johns Hopkins Children's Center
🇺🇸Baltimore, Maryland, United States
University of Mississippi Medical Center
🇺🇸Jackson, Mississippi, United States
Children's Mercy Hospital
🇺🇸Kansas City, Missouri, United States
Morgan Stanley Children's Hospital
🇺🇸New York, New York, United States
Texas Children's Hospital
🇺🇸Houston, Texas, United States
Nationwide Children's Hospital
🇺🇸Columbus, Ohio, United States
Children's Hospital of Philadelphia
🇺🇸Philadelphia, Pennsylvania, United States
Primary Children's Medical Center
🇺🇸Salt Lake City, Utah, United States
Children's Hospital of Wisconsin
🇺🇸Milwaukee, Wisconsin, United States
Massachusetts General Hospital
🇺🇸Boston, Massachusetts, United States
Duke University Children's Hospital
🇺🇸Durham, North Carolina, United States
Children's Hospital Los Angeles
🇺🇸Los Angeles, California, United States