Genetic Studies in Interstitial Cystitis/Bladder Pain Syndrome (IC/BPS)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 1,000
- 试验地点
- 1
- 主要终点
- observational study
研究概览
简要总结
Interstitial cystitis (IC), also called Bladder Pain syndrome (BPS) is a common condition with no known cause or cure. Twin studies and family accounts have suggested that the condition may be genetic or passed down (inherited) from one generation to another.
In this study, the investigators are collecting genetic material via blood or saliva and medical information from families in North America in an attempt to identify genetic factors that may cause IC/BPS. The investigators are enrolling inviduals with IC/BPS and their family members (family members with and without IC like symptoms). Travel to Boston not required.
详细描述
The investigators are trying to identify a genetic cause of interstitial cystitis (IC)/bladder pain syndrome (BPS). The investigators are looking to enroll individuals with a clinical diagnosis of IC/BPS and their family member. The investigators are attempting to determine if there is a connection between symptoms of IC/PBS and changes in specific genes or a pathway of connected genes. The investigators will use several genetic technologies including but not limited to; linkage analysis, genome sequencing, RNAseq and candidate gene studies to try to identify the cause of IC/BPS. Once the investigators identify the cause of IC/BPS they will be able to identify and design more effective treatments for affected individuals. The investigators are looking for families with IC/BPS symptoms to give a DNA sample (from blood/saliva), urine samples, and answer several questionnaires. Travel to Boston NOT necessary.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 年龄范围
- 1 Year 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Diagnosis of IC/BPS
- •Males and females of any age
- •Urinary frequency - more than 1X/hour, and/or
- •Dysuria, and/or
- •Pelvic, suprapubic, or abdominal pain - for 3 months or longer
- •Normal urinary stream (by history)
- •No evidence of active bacterial UTI (no pyuria & negative urinary culture for last 3 months)
- •First degree relative of someone with above symptoms
排除标准
- •Major structural/anatomical urinary tract abnormalities by ultrasound
- •Underlying inborn conditions affecting the urinary tract
- •Surgery/chemotherapy affected pelvic area
- •GI or GU cancers
- •Severe Constipation in children only
结局指标
主要结局
observational study
时间窗: through study completion, average of 10 years
Outcome is candidate or causative genes for causing IC/BPS.
次要结局
未报告次要终点
研究者
Catherine Brownstein
Assistant Professor of Genetics and Pediatrics, Harvard Medical School
Boston Children's Hospital