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.
Eligibility
Sex
MALE
Min age
0 Years
Max age
11 Years
Healthy volunteers
No
Inclusion Criteria:
* Boy
* 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
Exclusion Criteria:
* Any previous treatment with ER004 or participation in a clinical trial testing ER004
* Testing for XLHED disease with a negative result
Primary outcome measure(s)
Age — At inclusion mean age
Ectodysplasin A (EDA) characterization of the mutation (null or hypomorphic) — at inclusion % of patients
Mean sweat volume (µL) — at inclusion mean (µL)
Mean sweat volume (µL) — at one year mean (µL)
Mean sweat volume (µL) — at two years mean (µL)
Sweat pore density — at inclusion % of patients with normal/abnormal sweat pore density
Sweat pore density — at one year % of patients with normal/abnormal sweat pore density
Sweat pore density — at two years % of patients with normal/abnormal sweat pore density
Dentition problem (anodontia, hypodontia, oligodentia) — at inclusion % of patients
Dentition problem (anodontia, hypodontia, oligodentia) — at one year % of patients
Dentition problem (anodontia, hypodontia, oligodentia) — at two years % of patients
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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