Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS), a Pilot Study.
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 发起方
- Mayo Clinic
- 入组人数
- 1
- 试验地点
- 1
- 主要终点
- Number of patients who tolerated 70 degree head up tilt table test
研究概览
简要总结
Based on survey data, individuals with Cornelia de Lange Syndrome (CdLS) often experience symptoms of autonomic dysfunction however there are no reported studies in which these patients have had objective testing of the autonomic nervous system. This is a pilot study in which patients with CdLS will undergo the standard clinical testing for autonomic dysfunction with a autonomic reflex screen and thermoregulatory sweat test.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 8 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Pediatric patients (aged 8-17 years of age) with Cornelia de Lange syndrome.
- •Consent obtained from responsible guardian.
排除标准
- •Patients less than age 8 or 18 and older
- •Female patients known to be pregnant
- •Individuals not thought to be able to tolerate the testing.
- •Concomitant therapy with anticholinergic, alpha-adrenergic antagonists, beta-adrenergic antagonists or other medications which could interfere with autonomic testing. Patients may participate if the potentially interfering medication is held for five half-lives prior to the study
结局指标
主要结局
Number of patients who tolerated 70 degree head up tilt table test
时间窗: 1 year
Patients tolerating at least 5 minutes of tilt table
Number of patients who tolerated thermoregulatory sweat test
时间窗: 1 year
Patients tolerating at least 15 minutes of thermoregulatory sweat test
Number of patients who show evidence of dysautonomia
时间窗: 1 year
Dysautonomia measured by excessive heart rate (\>40 bpm) on a tilt table test or reduced sweating on a thermoregulatory sweat test.
次要结局
未报告次要终点