Clinical trial NCT01914003: Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
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
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Congenital Sucrase-isomaltase Deficiency (CSID)
Lead sponsor: QOL Medical, LLC
Sponsor class: INDUSTRY
Collaborators: name: Arnold Palmer Hospital for Children
name: Baylor College of Medicine
name: Nationwide Children's Hospital
name: Ann & Robert H Lurie Children's Hospital of Chicago
name: University of Mississippi Medical Center
name: Children's Hospital and Research Center at Oakland
name: Columbia University
name: Children's Hospital Los Angeles
name: Children's Hospital and Health System Foundation, Wisconsin
name: Children's Center for Digestive Healthcare, LLC
name: Massachusetts General Hospital
name: Duke University
name: Johns Hopkins University
name: Children's Hospital of Philadelphia
name: Children's Mercy Hospital Kansas City
name: Children's Hospital Colorado
name: Riley Children's Hospital
name: Primary Children's Hospital
name: State University of New York - Downstate Medical Center
First posted: 2013-08-01
Enrollment: 53
Sex: ALL
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
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.

Brief summary: 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.


Eligibility 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.

Primary outcomes:
measure: Prevalence of CSID Genetic Variants
timeFrame: 1 year
Secondary outcomes:
Other outcomes:
Locations:
city: Los Angeles
country: United States
facility: Children's Hospital Los Angeles
state: California
city: Oakland
country: United States
facility: Children's Hospital and Research Center of Oakland
state: California
city: Aurora
country: United States
facility: Children's Hospital of Colorado
state: Colorado
city: Orlando
country: United States
facility: Arnold Palmer Children's Hospital
state: Florida
city: Atlanta
country: United States
facility: Children's Center for Digestive Healthcare
state: Georgia
city: Chicago
country: United States
facility: Ann & Robert H. Lurie Children's Hospital of Chicago
state: Illinois
city: Indianapolis
country: United States
facility: Riley Hospital for Children
state: Indiana
city: Baltimore
country: United States
facility: Johns Hopkins Children's Center
state: Maryland
city: Boston
country: United States
facility: Massachusetts General Hospital
state: Massachusetts
city: Jackson
country: United States
facility: University of Mississippi Medical Center
state: Mississippi
city: Kansas City
country: United States
facility: Children's Mercy Hospital
state: Missouri
city: New York
country: United States
facility: Morgan Stanley Children's Hospital
state: New York
city: Stony Brook
country: United States
facility: Stony Brook University
state: New York
city: Durham
country: United States
facility: Duke University Children's Hospital
state: North Carolina
city: Columbus
country: United States
facility: Nationwide Children's Hospital
state: Ohio
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Houston
country: United States
facility: Texas Children's Hospital
state: Texas
city: Salt Lake City
country: United States
facility: Primary Children's Medical Center
state: Utah
city: Milwaukee
country: United States
facility: Children's Hospital of Wisconsin
state: Wisconsin
Study officials:
References: