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

October 2, 2017 updated by: QOL Medical, LLC

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

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
53

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

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

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

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

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

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

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
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

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
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.
1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
QOL Medical, LLC

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
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

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
May 1, 2013

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
May 1, 2015

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
July 1, 2015

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
July 22, 2013

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
July 31, 2013

First Posted (Estimate)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
August 1, 2013

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
November 6, 2017

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
October 2, 2017

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
August 1, 2016

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • S2002

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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