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

This study is currently recruiting participants. (see Contacts and Locations)
Verified June 2014 by QOL Medical, LLC
Sponsor:
Collaborators:
Arnold Palmer Children's Hospital
Baylor Texas Children's Hospital
Nationwide Children's Hospital
Ann & Robert H Lurie Children's Hospital
University of Mississippi Medical Center
Children's Hospital and Research Center at Oakland
Morgan Stanley Children's Hospital
Children's Hospital Los Angeles
Children's Hospital and Health System Foundation, Wisconsin
Children's Center for Digestive Healthcare
Massachusetts General Hospital
Duke University Children's Hospital
Johns Hopkins University
Children's Hospital of Philadelphia
Children's Mercy Hospital
Children's Hospital Colorado
Riley Hospital for Children
Primary Children's Hospital
State University of New York - Downstate Medical Center
Information provided by (Responsible Party):
QOL Medical, LLC
ClinicalTrials.gov Identifier:
NCT01914003
First received: July 22, 2013
Last updated: June 10, 2014
Last verified: June 2014
  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 ] [ Designated as safety issue: No ]
    Determine the 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.


Estimated Enrollment: 1500
Study Start Date: May 2013
Estimated 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

Ages Eligible for Study:   up to 18 Years
Genders Eligible for Study:   Both
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01914003

Contacts
Contact: Heather Elser, PhD 919-832-4949 helser@qolmed.com

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

Additional Information:
No publications provided

Responsible Party: QOL Medical, LLC
ClinicalTrials.gov Identifier: NCT01914003     History of Changes
Other Study ID Numbers: S2002
Study First Received: July 22, 2013
Last Updated: June 10, 2014
Health Authority: United States: Food and Drug Administration

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

ClinicalTrials.gov processed this record on September 18, 2014