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

NCT ID: NCT01914003

Last Updated: 2017-11-06

Study Results

Results available

Outcome measurements, participant flow, baseline characteristics, and adverse events have been published for this study.

View full results

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Total Enrollment

53 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-05-31

Study Completion Date

2015-07-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Congenital Sucrase-isomaltase Deficiency (CSID)

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

CSID Mutations

Individual has one or more known CSID mutations.

No interventions assigned to this group

Control

Individual does not have any known CSID mutations.

No interventions assigned to this group

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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.
Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Arnold Palmer Hospital for Children

OTHER

Sponsor Role collaborator

Baylor College of Medicine

OTHER

Sponsor Role collaborator

Nationwide Children's Hospital

OTHER

Sponsor Role collaborator

Ann & Robert H Lurie Children's Hospital of Chicago

OTHER

Sponsor Role collaborator

University of Mississippi Medical Center

OTHER

Sponsor Role collaborator

Children's Hospital and Research Center at Oakland

UNKNOWN

Sponsor Role collaborator

Columbia University

OTHER

Sponsor Role collaborator

Children's Hospital Los Angeles

OTHER

Sponsor Role collaborator

Children's Hospital and Health System Foundation, Wisconsin

OTHER

Sponsor Role collaborator

Children's Center for Digestive Healthcare, LLC

UNKNOWN

Sponsor Role collaborator

Massachusetts General Hospital

OTHER

Sponsor Role collaborator

Duke University

OTHER

Sponsor Role collaborator

Johns Hopkins University

OTHER

Sponsor Role collaborator

Children's Hospital of Philadelphia

OTHER

Sponsor Role collaborator

Children's Mercy Hospital Kansas City

OTHER

Sponsor Role collaborator

Children's Hospital Colorado

OTHER

Sponsor Role collaborator

Riley Children's Hospital

UNKNOWN

Sponsor Role collaborator

Primary Children's Hospital

OTHER

Sponsor Role collaborator

State University of New York - Downstate Medical Center

OTHER

Sponsor Role collaborator

QOL Medical, LLC

INDUSTRY

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Children's Hospital Los Angeles

Los Angeles, California, United States

Site Status

Children's Hospital and Research Center of Oakland

Oakland, California, United States

Site Status

Children's Hospital of Colorado

Aurora, Colorado, United States

Site Status

Arnold Palmer Children's Hospital

Orlando, Florida, United States

Site Status

Children's Center for Digestive Healthcare

Atlanta, Georgia, United States

Site Status

Ann & Robert H. Lurie Children's Hospital of Chicago

Chicago, Illinois, United States

Site Status

Riley Hospital for Children

Indianapolis, Indiana, United States

Site Status

Johns Hopkins Children's Center

Baltimore, Maryland, United States

Site Status

Massachusetts General Hospital

Boston, Massachusetts, United States

Site Status

University of Mississippi Medical Center

Jackson, Mississippi, United States

Site Status

Children's Mercy Hospital

Kansas City, Missouri, United States

Site Status

Morgan Stanley Children's Hospital

New York, New York, United States

Site Status

Stony Brook University

Stony Brook, New York, United States

Site Status

Duke University Children's Hospital

Durham, North Carolina, United States

Site Status

Nationwide Children's Hospital

Columbus, Ohio, United States

Site Status

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status

Texas Children's Hospital

Houston, Texas, United States

Site Status

Primary Children's Medical Center

Salt Lake City, Utah, United States

Site Status

Children's Hospital of Wisconsin

Milwaukee, Wisconsin, United States

Site Status

Countries

Review the countries where the study has at least one active or historical site.

United States

Related Links

Access external resources that provide additional context or updates about the study.

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

S2002

Identifier Type: -

Identifier Source: org_study_id