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Trial record 1 of 2 for:    "congenital sucrase-isomaltase deficiency"
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Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS) (CSID GPS)

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT01914003
First Posted: August 1, 2013
Last Update Posted: November 6, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborators:
Arnold Palmer Hospital for Children
Texas Children's Hospital
Nationwide Children's Hospital
Ann & Robert H Lurie Children's Hospital of Chicago
University of Mississippi Medical Center
Children's Hospital and Research Center at Oakland
Columbia University
Children's Hospital Los Angeles
Children's Hospital and Health System Foundation, Wisconsin
Children's Center for Digestive Healthcare, LLC
Massachusetts General Hospital
Duke University
Johns Hopkins University
Children's Hospital of Philadelphia
Children's Mercy Hospital
Children's Hospital Colorado
Riley Children's Hospital
Primary Children's Hospital
State University of New York - Downstate Medical Center
Information provided by (Responsible Party):
QOL Medical, LLC
  Purpose
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.

Condition
Congenital Sucrase-isomaltase Deficiency (CSID)

Study Type: Observational
Study Design: Observational Model: Case-Control
Time Perspective: Prospective
Official 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

Resource links provided by NLM:


Further study details as provided by QOL Medical, LLC:

Primary Outcome Measures:
  • 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.


Enrollment: 53
Study Start Date: May 2013
Study Completion Date: July 2015
Primary Completion Date: May 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts
CSID Mutations
Individual has one or more known CSID mutations.
Control
Individual does not have any known CSID mutations.

  Eligibility

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 18 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.
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.
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01914003


  Show 19 Study Locations
Sponsors and Collaborators
QOL Medical, LLC
Arnold Palmer Hospital for Children
Texas Children's Hospital
Nationwide Children's Hospital
Ann & Robert H Lurie Children's Hospital of Chicago
University of Mississippi Medical Center
Children's Hospital and Research Center at Oakland
Columbia University
Children's Hospital Los Angeles
Children's Hospital and Health System Foundation, Wisconsin
Children's Center for Digestive Healthcare, LLC
Massachusetts General Hospital
Duke University
Johns Hopkins University
Children's Hospital of Philadelphia
Children's Mercy Hospital
Children's Hospital Colorado
Riley Children's Hospital
Primary Children's Hospital
State University of New York - Downstate Medical Center
  More Information

Additional Information:
Responsible Party: QOL Medical, LLC
ClinicalTrials.gov Identifier: NCT01914003     History of Changes
Other Study ID Numbers: S2002
First Submitted: July 22, 2013
First Posted: August 1, 2013
Results First Submitted: July 7, 2016
Results First Posted: October 10, 2016
Last Update Posted: November 6, 2017
Last Verified: August 2016

Additional relevant MeSH terms:
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases