Non-interventional Study of Patients With Netherton Syndrome to Characterise the Natural History of Disease
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 4
- 试验地点
- 8
- 主要终点
- Severity of Netherton Syndrome (NS) assessed by the Ichthyosis Area Severity Index (IASI)
研究概览
简要总结
The goal of this non-interventional study (NIS) is to collect real-world data to describe the natural history of Netherton Syndrome (NS).
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •[for Part 1 and Part 2]
- •Confirmed diagnosis of NS by at least one of the following:
- •Genetic testing of mutations in Serine Protease Inhibitor of Kazal Type 5 (SPINK5);
- •Absence or major deficiency of the protein Lympho-Epithelial Kazal-Type-Related Inhibitor (LEKTI) in skin biopsy;
- •Clinical assessment (signs and symptoms).
- •Provision of consent or assent (i.e., by parent or legal guardian) as required by local regulations:
- •[Part 1] to authorise access to existing medical records for study data collection;
- •[Part 2] to participate in the longitudinal 52-week evaluation of disease severity and clinical outcome assessments.
- •[for Part 2 only]
- •Not participating in a clinical trial at the time of study enrolment for Part 2.
排除标准
- •[for Part 1 and Part 2]
- •Patient who has died prior to
- •Patient whose last known survival status is dated prior to 2002 (i.e., patient has been lost to clinical follow-up since 2002).
结局指标
主要结局
Severity of Netherton Syndrome (NS) assessed by the Ichthyosis Area Severity Index (IASI)
时间窗: up to 1 year
For patients participating in Part 2. IASI is a composite score that evaluates severity of erythema (subscale IASI-E) and scaling (subscale IASI-S) in different body regions as a function of their respective body surface areas. Severity of erythema and scaling is rated on a 5-point Likert scale of 0-4 in each of 4 body regions: head and neck (including scalp), arms (including palms), legs (including soles) and trunk, prorated based on body surface area in these body regions and the percentage of involvement in each of these body regions. The total IASI score ranges between 0-48 (i.e., sum of a maximum score of 24 for erythema and maximum score of 24 for scaling). Higher score denotes worse clinical severity.
次要结局
- Severity Netherton Syndrome (NS) assessed by the Investigator Global Assessment (IGA)(up to 1 year)