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

How is the study conducted?

This study is an observational study, designed to gather information without changing the usual care of the participants. The study is conducted in two European countries: France and Germany, each with one expert site. Young male patients with XLHED, from birth to just before their 11th birthday, can be included. These patients should not be participating in any other treatment study for XLHED.
The study collects data over a 2-year follow-up period, with assessments at three time points: at the start of the study, 1 year after enrollment, and 2 years after enrollment.
Investigators collect information through electronic forms (eCRFs) completed by healthcare professionals and questionnaires completed by the parents or legal guardians of the patients. The data come from medical records and observations made during routine clinical examinations. No extra tests or procedures are done for this study.
The study aims to describe the natural history and the burden of XLHED on the daily lives of patients and their families. Safety and ethical considerations are strictly followed, and the study is approved by appropriate review boards before any patients are enrolled.

 

Who can take part in the trial ?

The study started in July 2023. 
Young male patients with X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) can take part in this study. To be eligible, patients must:
 

  • Be males from birth to just before their 11th birthday. 
  • Have a confirmed diagnosis of XLHED, either through genetic testing or by showing the typical symptoms (such as issues with sweat glands, teeth, and hair) and having a mother with a confirmed genetic diagnosis of XLHED 
  • Have not received any treatment with a specific medicine called ER004 or participated in any studies related to ER004. 
  • Have their parent(s) or legal guardian(s) agree to the study and provide consent according to the country's regulations.

Patients are not eligible if they:

  • Have received any treatment with ER004 or are currently participating in any studies related to ER004.
  • Have a negative genetic test for XLHED.
  • Have any other medical condition that could interfere with the evaluation of the impact of XLHED.

The study takes place at one expert site in each of two European countries: France and Germany. Parents or legal guardians of patients who attend these expert centers are informed about the study and can decide if they want their child to participate.

What are the objectives of the trial and how are they evaluated ?

Objectives (Goals) : To describe the natural history and the daily life impact of XLHED on patients and their family.

Endpoints (Measurements to answer researchers’questions) : 

Researchers:

  • Describe the demographic characteristics and clinical profile of young male patients with XLHED.
  • Describe how these patients access healthcare access and their care paths.
  • Measure how XLHED affects the health-related quality of life (HRQL) of young male patients.
  • Assess how parents report the impact on the family.
  • Assess the costs families bear related to managing XLHED and its complications.
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