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Completed

NCT Number: NCT01914003

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

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.

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Key information

Age range

Up to 18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Children's Hospital Los Angeles, Los Angeles, California, United States

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Prevalence of CSID Genetic Variants

    Time frame: 1 year

    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.

Sponsors and collaborators

Lead sponsor

QOL Medical, LLC

Industry

Collaborators

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

Registry information

Official study title

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

Acronym: CSID GPS

Important dates

Study start
2013
Primary completion
2015
Study completion
2015
First posted
Aug 1, 2013
Registry last updated
Nov 6, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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