Characteristics and Impacts of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) in Boys: An Observational International Study

Active, not recruiting

• Conditions: X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)

• Registration Number: NCT07096206
• Lead Sponsor: Pierre Fabre Medicament

Brief Summary

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.

Detailed Description

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

Study Timeline

• Study Start: 2023-07-19
• Status Verified: 2025-07
• Study First Submitted: 2025-07-24
• Study First Submitted QC: 2025-07-24
• Last Update Submitted: 2025-07-24
• Study First Posted: 2025-07-31
• Last Update Posted: 2025-07-31
• Primary Completion: 2026-11-19
• Study Completion: 2026-11-19

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: Male
• Target Recruitment: 27

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Age	At inclusion	mean age
Ectodysplasin A (EDA) characterization of the mutation (null or hypomorphic)	at inclusion	% of patients
Mean sweat volume (µL)	at two years	mean (µL)
Sweat pore density	at two years	% of patients with normal/abnormal sweat pore density
Dentition problem (anodontia, hypodontia, oligodentia)	at two years	% of patients
Dry eyes	at inclusion	% of patients
Dry skin	at inclusion	% of patients

Secondary Outcome Measures

Name	Time	Method
Pediatric Quality of Life Inventory (PedsQL) at inclusion	at inclusion	mean +/- SD of the Global score
PedsQL (parent report)	at inclusion	mean +/- SD of the Global score

Trial Locations

Locations (2)

Necker hospital; 🇫🇷 Paris, France

Uniklinikum Erlangen; 🇩🇪 Erlangen, Germany