Congenital Sucrase-isomaltase Deficiency (CSID)
Conditions
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.
Interventions
None listed
Sponsors
Arnold Palmer Hospital for Children
Baylor College of Medicine
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 Kansas City
Children's Hospital Colorado
Riley Children's Hospital
Primary Children's Hospital
State University of New York - Downstate Medical Center
QOL Medical, LLC
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 18 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Prevalence of CSID Genetic Variants | 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. |
Countries
United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| CSID Mutations Individual has one or more known CSID mutations. | 27 |
| Control Individual does not have any known CSID mutations. | 26 |
| Total | 53 |
Baseline characteristics
| Characteristic | Control | CSID Mutations | Total |
|---|---|---|---|
| Age, Categorical <=18 years | 26 Participants | 27 Participants | 53 Participants |
| Age, Categorical >=65 years | 0 Participants | 0 Participants | 0 Participants |
| Age, Categorical Between 18 and 65 years | 0 Participants | 0 Participants | 0 Participants |
| Age, Continuous | 10.5 years | 8 years | 9 years |
| Region of Enrollment United States | 26 participants | 27 participants | 53 participants |
| Sex: Female, Male Female | 16 Participants | 14 Participants | 30 Participants |
| Sex: Female, Male Male | 10 Participants | 13 Participants | 23 Participants |
Adverse events
| Event type | EG000 affected / at risk | EG001 affected / at risk |
|---|---|---|
| deaths Total, all-cause mortality | — / — | — / — |
| other Total, other adverse events | 0 / 27 | 0 / 26 |
| serious Total, serious adverse events | 0 / 27 | 0 / 26 |
Outcome results
Primary
Prevalence of CSID Genetic Variants
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.
Time frame: 1 year
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| CSID Mutations | Prevalence of CSID Genetic Variants | 27 Participants |
| Control | Prevalence of CSID Genetic Variants | 0 Participants |