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

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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.


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.
We found this trial at
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225 E Chicago Ave
Chicago, Illinois 60611
(312) 227-4000
Ann & Robert H. Lurie Children's Hospital of Chicago Ann & Robert H. Lurie Children
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700 Childrens Drive
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2500 N State St
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2401 Gillham Rd
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4650 Sunset Blvd
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6621 Fannin St
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705 Riley Hospital Dr
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New York, New York 10032
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Stony Brook, New York 11794
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