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

Natural History and Disease Burden of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED): An Observational, Multicentre, International Study (EdeReaLife)

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07096206

Acronym

EdeReaLife

Enrollment

Registered

2025-07-31

Start date

2023-07-19

Completion date

2026-11-19

Last updated

2025-07-31

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)

Keywords

Observational study, X-Linked Hypohidrotic Ectodermal Dysplasia, XLHED, EDA null mutation

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

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

MALE

Age

0 Years to 11 Years

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Dentition problem (anodontia, hypodontia, oligodentia)	at inclusion	% of patients
Dry eyes	at inclusion	% of patients
Dry skin	at inclusion	% of patients
Sweat pore density	at inclusion	% of patients with normal/abnormal sweat pore density
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)

Secondary

Measure	Time frame	Description
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

Countries

France, Germany

Outcome results