Natural History and Disease Burden of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED): An Observational, Multicentre, International Study (EdeReaLife)
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 27
- 试验地点
- 2
- 主要终点
- Age
研究概览
简要总结
This is an observational, multicentre, international study over a 2-year follow-up period.
The aim of this study is to understand how XLHED affects the lives of young male patients and their families over time. By studying the natural course of the disease and its impact, the study could improve the understanding of the challenges faced by these patients and their families.
详细描述
XLHED is a rare genetic condition that affects more severely males. The main symptoms are missing or reduced ability to sweat, leading to a risk of dangerous overheating, as well as few or no teeth and sparse hair. This condition can significantly impact the daily lives of patients and their families.
Given the rarity of the disease and the purely descriptive purposes of the study, all eligible patients may be included over a period of approximately 12 months. It is expected to include between 20 and 30 male patients over one year of enrolment in France and Germany.
Statistical analysis
will be descriptive with no hypothesis tested. Questionnaires will be completed by the child's parent at inclusion and at 1 and 2 years after the inclusion data
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 0 Years 至 11 Years（Child）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Age at inclusion: from birth to the day before the 11th birthday
- •XLHED disease that has been diagnosed by:
- •genetic testing or
- •symptoms (sweating ability, teeth and hair impairment) and genetic diagnosis of the mother
排除标准
- •Any previous treatment with ER004 or participation in a clinical trial testing ER004
- •Testing for XLHED disease with a negative result
结局指标
主要结局
Age
时间窗: At inclusion
mean age
Ectodysplasin A (EDA) characterization of the mutation (null or hypomorphic)
时间窗: at inclusion
% of patients
Mean sweat volume (µL)
时间窗: at two years
mean (µL)
Sweat pore density
时间窗: at two years
% of patients with normal/abnormal sweat pore density
Dentition problem (anodontia, hypodontia, oligodentia)
时间窗: at two years
% of patients
Dry eyes
时间窗: at inclusion
% of patients
Dry skin
时间窗: at inclusion
% of patients
次要结局
- Pediatric Quality of Life Inventory (PedsQL) at inclusion(at inclusion)
- PedsQL (parent report)(at inclusion)