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

Completed

Conditions studied: Congenital Sucrase-isomaltase Deficiency (CSID)

In brief

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.

Key facts

Study ID

NCT01914003

Run by

QOL Medical, LLC

People needed

53

Starts

2013-05-01

Expected to finish

2015-07-01

Last updated by the study team

2017-11-06

Who can join

Age: any, up to 18. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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.

Where it is running

• Children's Hospital Los Angeles — Los Angeles, California, United States
• Children's Hospital and Research Center of Oakland — Oakland, California, United States
• Children's Hospital of Colorado — Aurora, Colorado, United States
• Arnold Palmer Children's Hospital — Orlando, Florida, United States
• Children's Center for Digestive Healthcare — Atlanta, Georgia, 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
• Massachusetts General Hospital — Boston, Massachusetts, 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
• Stony Brook University — Stony Brook, New York, United States
• Duke University Children's Hospital — Durham, North Carolina, United States
• Nationwide Children's Hospital — Columbus, Ohio, United States
• Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States
• Texas Children's Hospital — Houston, Texas, United States
• Primary Children's Medical Center — Salt Lake City, Utah, United States
• Children's Hospital of Wisconsin — Milwaukee, Wisconsin, United States

Full record on ClinicalTrials.gov

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