NCT00985413终止不适用
An Observational Study to Assess the Natural History Including Growth and Hearing in Patients With Cockayne Syndrome
DNage B.V.4 个研究点 分布在 3 个国家目标入组 40 人开始时间: 2009年9月最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 发起方
- 入组人数
- 40
- 试验地点
- 4
- 主要终点
- The primary objective is to determine the rate of linear growth over a 6-month period in children < 2 years of age and over a 12-month period in children ≥ 2 years of age.
研究概览
简要总结
This is an Observational Study of children under the age of 11 diagnosed with Cockayne Syndrome to assess the natural progression of Cockayne Syndrome disease, with special attention to hearing and physical changes in length or height, weight, head circumference, and arm span during standard treatment.
The primary analytical objective is to determine the rate of linear growth over a 6-month period in children < 2 years of age and over a 12-month period in children ≥ 2 years of age.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
入排标准
- 年龄范围
- 1 Year 至 11 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Pediatric patients with a documented diagnosis of CS, as suggested by clinical features and possible confirmation by genetic consultation and analysis
- •Age of participation:
- •At least 12 months of age at the time of signing Informed Consent/Assent
- •Female patient's age will not be greater than 10 years of age at the time of signing Informed Consent/Assent
- •Male patient's age will not be greater than 11 years of age at the time of signing Informed Consent/Assent
排除标准
- •Severe contractures or physical deformities that in the opinion of the investigator would prevent accurate measurement of height, length and ulna length
- •Patients that have taken growth hormone or growth hormone related medications within 12 months prior to the date of Informed Consent/Assent
- •Known history of inborn error of hyperprolinemia (Type I or Type II)
- •Clinical features present at the time of initial screening that are associated with the terminal phases of the natural progression of CS suggesting safe travel and completion of the study and its assessments to be unlikely as judged by the Investigator, including any of the following:
- •Continuous or intermittent dependence on supplemental oxygen at home during the prior six months
- •Two or more hospitalizations for pneumonia during the prior 12 months;
- •A documented net weight loss of at least 10%, which has not been recovered and which includes a significant net weight loss (beyond the estimated error of the measurement) over the most recent 6 months, despite intensive nutritional support including the use of gastrostomy tube feedings
- •Presence of scoliosis with a Cobb's angle of 30º or greater
结局指标
主要结局
The primary objective is to determine the rate of linear growth over a 6-month period in children < 2 years of age and over a 12-month period in children ≥ 2 years of age.
时间窗: 6 -12 months
次要结局
- Hearing Test Results tabulated and with the severity/deficits to be correlated with patient age, height velocity, and Pediatric Evaluation of Disabilities Inventory (PEDI)Score(6-12 months)
研究者
研究点 (4)
Loading locations...
相似试验
已完成
不适用
The Natural History of Infantile Globoid Cell LeukodystrophyInfantile Globoid Cell LeukodystrophyNCT00983879Zymenex A/S6
Unknown
不适用
Registry and Clinical Observation of Children With Diarrhoeal DiseaseDiarrheaNCT05052489Zhejiang University4,000
招募中
不适用
Adverse Childhood Experiences in Patients with MS: Impact on Quality of Life and on Coping Strategies Towards the Disease and Its TreatmentMultiple SclerosisNCT06718920Fondazione Policlinico Universitario Agostino Gemelli IRCCS500
撤回
不适用
Mucopolysaccharidosis Type II ObservationalMucopolysaccharidosis IINCT04591834REGENXBIO Inc.
招募中
不适用
Prospective Clinical Assessment Study in Children With HypochondroplasiaHypochondroplasiaNCT06410976QED Therapeutics, a BridgeBio company150