Active — Not RecruitingNot Applicable

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

France, Germany27 participantsStarted 2023-07-19

Plain-language 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.

Who can participate

Age range0 Years – 11 Years

SexMALE

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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

What they're measuring

Age

Timeframe: At inclusion

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

Timeframe: at inclusion

Mean sweat volume (µL)

Timeframe: at inclusion

Mean sweat volume (µL)

Timeframe: at one year

Mean sweat volume (µL)

Timeframe: at two years

Sweat pore density

Timeframe: at inclusion

Sweat pore density

Timeframe: at one year

Sweat pore density

Timeframe: at two years

Dentition problem (anodontia, hypodontia, oligodentia)

Timeframe: at inclusion

Trial details

NCT IDNCT07096206

SponsorPierre Fabre Medicament

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2026-11-19

View on ClinicalTrials.gov More X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) trials