Prospective Evaluation of Infants and Children With Congenital Ichthyosis
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 21
- 试验地点
- 1
- 主要终点
- Weight
研究概览
简要总结
This project will follow babies with ichthyosis over time in order to better understand the natural course of ichthyosis in infants and children and to examine how specific genetic mutations affect clinical characteristics.
详细描述
The investigators hypothesize that early complications and comorbidities in infants with congenital ichthyosis are genotype-dependent, such that clinical standards of care can be tailored to the genetic diagnoses. Definition of clinical groups based upon phenotype may also provide useful predictors of outcome. Information gained from this study will provide the basis for the development of rational standards of care for the future management of children with congenital ichthyosis.
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
- — 至 3 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •One parent must be able to understand and sign an informed consent document.
- •Newborns who present at or within 2 months of birth with a clinical diagnosis of ichthyosis.
- •Families must consent to providing DNA for genetic analysis
- •Families must agree to the intake evaluation followed by 10 follow-up evaluations, which will occur at ages 1, 2, 3, 6, 9, 12, 18, 24, and 36 months.
排除标准
- •Subjects with non-English speaking parents
- •Patients with a family history of ichthyosis vulgaris
- •Patients with X-linked ichthyosis
结局指标
主要结局
Weight
时间窗: 36 Months
To assess growth, birth weight and all weights (in pounds) obtained during hospitalization and clinic visits will be recorded. The primary outcome of the study will be to determine incidence, timing and severity of "growth failure" in neonates with ichthyosis in relation to genotype at the 3 year pediatric visit. Weight of the child will primarily be used to make this determination.
Length (Height)
时间窗: 36 Months
To assess growth, birth length and all subsequent measures (in inches) obtained during hospitalization and clinic visits will be recorded. The primary outcome of the study will be to determine incidence, timing and severity of "growth failure" in neonates with ichthyosis in relation to genotype at the 3 year pediatric visit. Length of the child will primarily be used to make this determination.
次要结局
- Developmental Delays(Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months)
- Weight(Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months)
- Length (Height)(Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months)
- Complications of Congenital Ichthyosis(Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months)
- Electrolyte Disturbance(Birth (baseline), 1 month, 2 months, 3 months, 12 months, 24 months, 36 months)
- Systemic Infections(Birth (baseline), 1 month, 2 months, 3 months, 6 months, 9 months, 12 months, 18 months, 24 months, 30 months, 36 months)