X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)EdeReaLifeNCT07096206
Characteristics and Impacts of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED) in Boys: An Observational International Study
An observational study of X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED), run by Pierre Fabre Medicament at 2 sites in 2 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 to 11 years, men only
- Conditions the study is for
- X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
- How many people
- 27 participants
- Where
- 2 sitesin 2 countries
- Study dates
- 19 Jul 2023to 26 Nov 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 to 11 years
- Men only
- No healthy volunteers
- Child
Study population: National expert centres specialized in XLHED in France and Germany
Who may be able to join
- 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
Who cannot join
- Any previous treatment with ER004 or participation in a clinical trial testing ER004
- Testing for XLHED disease with a negative result
Trial locations and contacts
2 sites in 2 countries.
2 sites in 2 countries
About this study
Official title: Natural History and Disease Burden of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED): An Observational, Multicentre, International Study (EdeReaLife)
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.
Read the 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
- Keywords
- Observational study, X-Linked Hypohidrotic Ectodermal Dysplasia, XLHED, EDA null mutation
- Medical subject headings
- Ectodermal Dysplasia 1, Anhidrotic
What is being measured
The primary outcome is the main question the study is designed to answer.
Age
mean age
Measured: At inclusion
Ectodysplasin A (EDA) characterization of the mutation (null or hypomorphic)
% of patients
Measured: at inclusion
Mean sweat volume (µL)
mean (µL)
Measured: at inclusion
Mean sweat volume (µL)
mean (µL)
Measured: at one year
Mean sweat volume (µL)
mean (µL)
Measured: at two years
Sweat pore density
% of patients with normal/abnormal sweat pore density
Measured: at inclusion
Sweat pore density
% of patients with normal/abnormal sweat pore density
Measured: at one year
Sweat pore density
% of patients with normal/abnormal sweat pore density
Measured: at two years
Dentition problem (anodontia, hypodontia, oligodentia)
% of patients
Measured: at inclusion
Dentition problem (anodontia, hypodontia, oligodentia)
% of patients
Measured: at one year
Dentition problem (anodontia, hypodontia, oligodentia)
% of patients
Measured: at two years
Dry eyes
% of patients
Measured: at inclusion
Dry skin
% of patients
Measured: at inclusion
Secondary outcomes (2)
Pediatric Quality of Life Inventory (PedsQL) at inclusion
mean +/- SD of the Global score
Measured: at inclusion
PedsQL (parent report)
mean +/- SD of the Global score
Measured: at inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Jul 2025
- Study start19 Jul 2023
- Primary completion26 Nov 2025
- Study completion26 Nov 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)Studies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 27 participants (actual)
Sponsor and investigators
- Lead sponsor
- Pierre Fabre Medicament
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Marlène Guiraud, Study director, Pierre Fabre Médicament
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07096206
- Sponsor's protocol ID
- NIS16479
- Acronym
- EdeReaLife
- Status last verified
- Sep 2026
- First submitted
- 24 Jul 2025
- Last updated
- 2 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Natural History and Disease Burden of X-linked Hypohidrotic Ectodermal Dysplasia (XLHED): An Observational, Multicentre, International Study (EdeReaLife)
- ClinicalTrials.gov ID
- NCT07096206
- Acronym / sponsor ID
- EdeReaLife / NIS16479
- Keywords
- Observational study, X-Linked Hypohidrotic Ectodermal Dysplasia, XLHED, EDA null mutation
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 27 participants (actual)
- Lead sponsor
- Pierre Fabre MedicamentIndustry (pharma, biotech, devices)
- Study start
- 19 Jul 2023 (actual)
- Primary completion
- 26 Nov 2025 (actual)
- Study completion
- 26 Nov 2025 (actual)
- First posted
- 31 Jul 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 0 to 11 years
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- National expert centres specialized in XLHED in France and Germany
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (2 listed)
- Any previous treatment with ER004 or participation in a clinical trial testing ER004
- Testing for XLHED disease with a negative result
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Age
Time frame: At inclusion
mean age
Ectodysplasin A (EDA) characterization of the mutation (null or hypomorphic)
Time frame: at inclusion
% of patients
Mean sweat volume (µL)
Time frame: at inclusion
mean (µL)
Mean sweat volume (µL)
Time frame: at one year
mean (µL)
Mean sweat volume (µL)
Time frame: at two years
mean (µL)
Sweat pore density
Time frame: at inclusion
% of patients with normal/abnormal sweat pore density
Sweat pore density
Time frame: at one year
% of patients with normal/abnormal sweat pore density
Sweat pore density
Time frame: at two years
% of patients with normal/abnormal sweat pore density
Dentition problem (anodontia, hypodontia, oligodentia)
Time frame: at inclusion
% of patients
Dentition problem (anodontia, hypodontia, oligodentia)
Time frame: at one year
% of patients
Dentition problem (anodontia, hypodontia, oligodentia)
Time frame: at two years
% of patients
Dry eyes
Time frame: at inclusion
% of patients
Dry skin
Time frame: at inclusion
% of patients
2 secondary outcomes
Pediatric Quality of Life Inventory (PedsQL) at inclusion
Time frame: at inclusion
PedsQL (parent report)
Time frame: at inclusion
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Oct 2026.
- Individual participant dataSharing planned: No
Related trials for X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
RecruitingPhase 2
Intraamniotic Administrations of ER004 to Male Subjects With X-linked Hypohidrotic Ectodermal Dysplasia
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Marlène Guiraud study director
Pierre Fabre Médicament
2 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED), run by Pierre Fabre Medicament at 2 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France, Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Age (time frame: At inclusion). The study lists 13 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Oct 2026.