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

Completed
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
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.

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Prevalence of CSID Genetic Variants1 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
NameTimeMethod

Trial Locations

Locations (19)

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

Scroll for more (9 remaining)
Children's Hospital Los Angeles
🇺🇸Los Angeles, California, United States

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