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NCT Number: NCT07096206

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

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Abnormalities, Multiple Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Ectodermal Dysplasia Ectodermal Dysplasia 1, Anhidrotic Genetic Diseases, Inborn Genetic Diseases, X-Linked Skin Abnormalities Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases

Age range

0 year–11 year

Sex eligibility

Male

Study type

Observational

Primary location

Necker hospital, Paris, France

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About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Age

    Time frame: At inclusion

    mean age

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

    Time frame: at inclusion

    % of patients

  3. Mean sweat volume (µL)

    Time frame: at inclusion

    mean (µL)

  4. Mean sweat volume (µL)

    Time frame: at one year

    mean (µL)

  5. Mean sweat volume (µL)

    Time frame: at two years

    mean (µL)

  6. Sweat pore density

    Time frame: at inclusion

    % of patients with normal/abnormal sweat pore density

  7. Sweat pore density

    Time frame: at one year

    % of patients with normal/abnormal sweat pore density

  8. Sweat pore density

    Time frame: at two years

    % of patients with normal/abnormal sweat pore density

  9. Dentition problem (anodontia, hypodontia, oligodentia)

    Time frame: at inclusion

    % of patients

  10. Dentition problem (anodontia, hypodontia, oligodentia)

    Time frame: at one year

    % of patients

  11. Dentition problem (anodontia, hypodontia, oligodentia)

    Time frame: at two years

    % of patients

  12. Dry eyes

    Time frame: at inclusion

    % of patients

  13. Dry skin

    Time frame: at inclusion

    % of patients

Secondary outcomes

  1. Pediatric Quality of Life Inventory (PedsQL) at inclusion

    Time frame: at inclusion

    mean +/- SD of the Global score

  2. PedsQL (parent report)

    Time frame: at inclusion

    mean +/- SD of the Global score

Sponsors and collaborators

Lead sponsor

Pierre Fabre Medicament

Industry

Registry information

Official study title

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

Acronym: EdeReaLife

Important dates

Study start
2023
Primary completion
2026
Study completion
2026
First posted
Jul 31, 2025
Registry last updated
Jul 31, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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