NCT07096206

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.

Trial Health

78
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
27

participants targeted

Target at below P25 for all trials

Timeline
7mo left

Started Jul 2023

Typical duration for all trials

Geographic Reach
2 countries

2 active sites

Status
active not recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress84%
Jul 2023Nov 2026

Study Start

First participant enrolled

July 19, 2023

Completed
2 years until next milestone

First Submitted

Initial submission to the registry

July 24, 2025

Completed
7 days until next milestone

First Posted

Study publicly available on registry

July 31, 2025

Completed
1.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

November 19, 2026

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

November 19, 2026

Last Updated

July 31, 2025

Status Verified

July 1, 2025

Enrollment Period

3.3 years

First QC Date

July 24, 2025

Last Update Submit

July 24, 2025

Conditions

X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)

Keywords

Observational studyX-Linked Hypohidrotic Ectodermal DysplasiaXLHEDEDA null mutation

Outcome Measures

Primary Outcomes (13)

  • Age

    mean age

    At inclusion

  • Ectodysplasin A (EDA) characterization of the mutation (null or hypomorphic)

    % of patients

    at inclusion

  • Mean sweat volume (µL)

    mean (µL)

    at inclusion

  • Mean sweat volume (µL)

    mean (µL)

    at one year

  • Mean sweat volume (µL)

    mean (µL)

    at two years

  • Sweat pore density

    % of patients with normal/abnormal sweat pore density

    at inclusion

  • Sweat pore density

    % of patients with normal/abnormal sweat pore density

    at one year

  • Sweat pore density

    % of patients with normal/abnormal sweat pore density

    at two years

  • Dentition problem (anodontia, hypodontia, oligodentia)

    % of patients

    at inclusion

  • Dentition problem (anodontia, hypodontia, oligodentia)

    % of patients

    at one year

  • Dentition problem (anodontia, hypodontia, oligodentia)

    % of patients

    at two years

  • Dry eyes

    % of patients

    at inclusion

  • Dry skin

    % of patients

    at inclusion

Secondary Outcomes (2)

  • Pediatric Quality of Life Inventory (PedsQL) at inclusion

    at inclusion

  • PedsQL (parent report)

    at inclusion

Eligibility Criteria

Age0 Years - 11 Years
Sexmale(Gender-based eligibility)
Healthy VolunteersNo
Age GroupsChild (0-17)
Sampling MethodNon-Probability Sample
Study Population

National expert centres specialized in XLHED in France and Germany

You may qualify if:

  • Boy
  • XLHED disease that has been diagnosed by:
  • genetic testing or
  • symptoms (sweating ability, teeth and hair impairment) and genetic diagnosis of the mother

You may not qualify if:

  • Any previous treatment with ER004 or participation in a clinical trial testing ER004
  • Testing for XLHED disease with a negative result

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (2)

Necker hospital

Paris, 75015, France

Location

Uniklinikum Erlangen

Erlangen, 91054, Germany

Location

MeSH Terms

Conditions

Ectodermal Dysplasia 1, Anhidrotic

Condition Hierarchy (Ancestors)

Ectodermal DysplasiaAbnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesSkin AbnormalitiesGenetic Diseases, X-LinkedGenetic Diseases, InbornSkin Diseases, GeneticSkin DiseasesSkin and Connective Tissue Diseases

Study Officials

  • Marlène Guiraud

    Pierre Fabre Médicament

    STUDY DIRECTOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

July 24, 2025

First Posted

July 31, 2025

Study Start

July 19, 2023

Primary Completion (Estimated)

November 19, 2026

Study Completion (Estimated)

November 19, 2026

Last Updated

July 31, 2025

Record last verified: 2025-07

Data Sharing

IPD Sharing
Will not share

Locations

FR(1)DE(1)