Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
Status: | Recruiting |
---|---|
Healthy: | No |
Age Range: | Any - 18 |
Updated: | 4/2/2016 |
Start Date: | May 2013 |
Contact: | Heather Elser, PhD |
Email: | helser@qolmed.com |
Phone: | 919-832-4949 |
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
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.
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.
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.
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