N/A
N=53
Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
Congenital Sucrase-isomaltase Deficiency (CSID)
Bottom Line
View on ClinicalTrials.gov: NCT01914003 ↗Enrolled (actual)
53
Serious AEs
0.0%
Results posted
Oct 2016
Primary outcome: Primary: Prevalence of CSID Genetic Variants — 27; 0 Participants
Study Design & Population
- Study type
- Observational
- Phase
- N/A
- Interventions
- —
- Age
- Pediatric, Adult
- Sex
- All
- Sponsor
- QOL Medical, LLC
- Primary completion
- May 2015
Outcome Measures
| Outcome | Result | p-value |
|---|---|---|
| PRIMARY Prevalence of CSID Genetic Variants |
27; 0 | — |
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.
Eligibility Criteria
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.
Data sourced from ClinicalTrials.gov (NCT01914003). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.