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

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.

Study Overview

• Status: Completed
• Conditions: Congenital Sucrase-isomaltase Deficiency (CSID)

• Study Type: Observational
• Enrollment (Actual): 53

Contacts and Locations

Study Locations

• United States
  • California
    • Los Angeles, California, United States
      • Children's Hospital Los Angeles
    • Oakland, California, United States
      • Children's Hospital and Research Center of Oakland
  • Colorado
    • Aurora, Colorado, United States
      • Children's Hospital of Colorado
  • Florida
    • Orlando, Florida, United States
      • Arnold Palmer Children's Hospital
  • Georgia
    • Atlanta, Georgia, United States
      • Children's Center for Digestive Healthcare
  • Illinois
    • Chicago, Illinois, United States
      • Ann & Robert H. Lurie Children's Hospital of Chicago
  • Indiana
    • Indianapolis, Indiana, United States
      • Riley Hospital for Children
  • Maryland
    • Baltimore, Maryland, United States
      • Johns Hopkins Children's Center
  • Massachusetts
    • Boston, Massachusetts, United States
      • Massachusetts General Hospital
  • Mississippi
    • Jackson, Mississippi, United States
      • University of Mississippi Medical Center
  • Missouri
    • Kansas City, Missouri, United States
      • Children's Mercy Hospital
  • New York
    • New York, New York, United States
      • Morgan Stanley Children's Hospital
    • Stony Brook, New York, United States
      • Stony Brook University
  • North Carolina
    • Durham, North Carolina, United States
      • Duke University Children's Hospital
  • Ohio
    • Columbus, Ohio, United States
      • Nationwide Children's Hospital
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States
      • Children's Hospital of Philadelphia
  • Texas
    • Houston, Texas, United States
      • Texas Children's Hospital
  • Utah
    • Salt Lake City, Utah, United States
      • Primary Children's Medical Center
  • Wisconsin
    • Milwaukee, Wisconsin, United States
      • Children's Hospital of Wisconsin

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 18 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

18 years of age or younger experiencing chronic, idiopathic diarrhea or abdominal pain for at least 4 weeks.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
CSID Mutations; Individual has one or more known CSID mutations.
Control; Individual does not have any known CSID mutations.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Prevalence of CSID Genetic Variants	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.	1 year

Collaborators and Investigators

• Sponsor: QOL Medical, LLC
• Collaborators: Johns Hopkins University; Massachusetts General Hospital; Baylor College of Medicine; Children's Hospital of Philadelphia; Columbia University; Children's Hospital Colorado; Duke University; Ann & Robert H Lurie Children's Hospital of Chicago; Nationwide Children's Hospital; Children's Mercy Hospital Kansas City; Children's Hospital and Health System Foundation, Wisconsin; Children's Hospital Los Angeles; Primary Children's Hospital; State University of New York - Downstate Medical Center; University of Mississippi Medical Center; Arnold Palmer Hospital for Children; Children's Hospital and Research Center at Oakland; Children's Center for Digestive Healthcare, LLC; Riley Children's Hospital

Publications and helpful links

Helpful Links

• Study overview

Study record dates

Study Major Dates

• Study Start: May 1, 2013
• Primary Completion (Actual): May 1, 2015
• Study Completion (Actual): July 1, 2015

Study Registration Dates

• First Submitted: July 22, 2013
• First Submitted That Met QC Criteria: July 31, 2013
• First Posted (Estimate): August 1, 2013

Study Record Updates

• Last Update Posted (Actual): November 6, 2017
• Last Update Submitted That Met QC Criteria: October 2, 2017
• Last Verified: August 1, 2016

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors
• Other Study ID Numbers: S2002