A prenatal study for XLHED affected boys

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A prospective, open-label, genotype-match controlled, multicenter clinical trial to investigate the efficacy and safety of intra-amniotic ER004 as a prenatal treatment for male subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED)

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How is the study conducted?

This is an open-label Phase II trial.
Approximately 20 pregnant women expecting a baby boy with XLHED will participate in the trial.
The trial for the pregnant woman and her XLHED-affected son consists of 3 different periods:
• A screening period during which the pregnant woman comes for a single visit to the trial site to check that both her and her unborn son are eligible for participation in the trial. During this visit, she will get a chance to discuss in person with the trial doctor prior to giving her consent or deciding not to participate.
• A treatment period during which the pregnant woman visits the trial site 3 times to receive a total of 3 injections of ER004 into the amniotic fluid, approximately 3-week apart.
• A follow-up period which starts when the treated boy is born and lasts until he is 5 years old. Regular visits at the trial site will take place during which trial doctors will conduct various tests and measurements to evaluate the effects of the treatment and its tolerability.
The “comparator group” consists of XLHED-affected male blood relatives who will not receive ER004. The XLHED-affected male blood relative is asked to come to the clinical site for one visit only, to allow doctors to conduct non-invasive medical tests.
The picture below summarizes the information presented above:

Edelife Schema

Who can take part in the trial ?

To take part in the trial, participants must fulfill several conditions including the following:
Treated group
• Pregnant woman (aged 18 years or over) with a confirmed genetic diagnosis of XLHED AND expecting a baby boy with XLHED.
Comparator group
• XLHED-affected male blood relative of the pregnant woman (aged between 6 months and 75 years), who has not previously received the ER004 treatment.

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

The main objective of the trial is:
• To evaluate the effect of prenatal treatment with ER004 on the sweating ability of treated boys. This is assessed by measuring the amount of sweat produced by XLHED affected treated boys at given times during the trial and up to 5 years of age.
In addition, the trial will allow:
• To evaluate if treatment with ER004 is tolerated by both the mother and her son. This is assessed by evaluating the number, frequency and type of side effects experienced by both the mother, up to 1 month after delivery, and by her son, until he is 5 years of age.
• To evaluate the effect of ER004 on teeth development of XLHED-affected treated boys up to 5 years of age.
• To evaluate the potential effects of prenatal treatment with ER004 on other symptoms of XLHED.

What is the study Medication ?

ER004 treatment is given before birth, in a procedure that closely resembles an amniocentesis. Three rounds of injections into the amniotic fluid take place over 3 visits, approximately 3 weeks apart, at pregnancy weeks 26, 28-29 and 31-32.
No more ER004 administration will take place after the baby is born.

More information

Research articles from Prof Schneider and colleagues: Schneider 2018; Schneider 2022

Link to EDELIFE Trial Website: edelifeclinicaltrial.com

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