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N/A N=53

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

Congenital Sucrase-isomaltase Deficiency (CSID)

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

OutcomeResultp-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.
View full record on ClinicalTrials.gov →

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.

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