NCT01914003已完成不适用
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
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 53
- 试验地点
- 19
- 主要终点
- Prevalence of CSID Genetic Variants
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- — 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.
结局指标
主要结局
Prevalence of CSID Genetic Variants
时间窗: 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.
次要结局
未报告次要终点
研究者
研究点 (19)
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