What is the

experimental treatment ER004?

What is ER004?

ER004 is an experimental medicine. It is not approved for use except in clinical studies and is not available for sale.

It is hoped ER004 will replace an important protein called EDA (Ectodysplasin-A) which is missing in those affected by XLHED. Absence of this protein during the baby’s development in the womb leads to some important structures not forming properly (sweat glands, hair, teeth etc). When given to XLHED-affected baby boys at the right time in the womb, ER004 should act as a replacement for the missing EDA and trigger the process that leads to the normal development of a baby’s skin, teeth, hair, and sweat glands, leading to better formation of these structures.

A few years ago, Edimer Pharmaceuticals, who previously developed the treatment, conducted a research study giving ER004 to affected newborn babies in the first fourteen days of life.

While ER004 did not lead to any major or significant side effects, it did not work on improving XLHED symptoms.

We now understand that replacing the missing EDA protein with ER004 after birth came too late as the development of the structures had already occurred.

Therefore, for the replacement ER004 to have a chance to work, it must be given during the development of the important structures (sweat glands, hair, teeth etc.), before birth.

How is ER004 given to your child in your womb?

ER004 is given in a procedure that closely resembles an amniocentesis. Using a needle and a syringe filled with ER004, and under ultrasound guidance, an experienced doctor will inject ER004 into the water (amniotic fluid) around your baby. During this stage of pregnancy, babies regularly swallow amniotic fluid and will therefore swallow the added ER004 at the same time. Once swallowed, ER004 will be absorbed into your baby. This procedure will be repeated twice more during your pregnancy (i.e. three treatments in all).

We believe ER004 does not cross to the pregnant woman and you should therefore expect no benefits for your own health. During the treatment period, and up until 1 month after your baby’s birth, your health will be closely monitored alongside that of your baby.

Giving ER004 to your baby while still in the womb might sound scary. However, we think this is the only time at which the treatment might work.

Ectodysplasin under normal development
A protein called "ectodysplasin" is needed for glands, hair, teeth & skin to develop properly.
This is happening very early in life.
Ectodysplasin (EDA1) is missing in XLHED
In XLHED, ectodysplasin is missing.
Because of this, glands, hair, teeth an skin do not develop properly.
ER004 as a replacement for Ectodysplasin (EDA1)
In animal studies ER004 replaced ectodysplasin and helped glands, hair, teeth and skin to develop.
This is now being testing in human clinical trials.

What are the possible side effects of the treatment?

Side effects can come from the experimental medicine, ER004, and from the injection procedure itself. If you would like more information on the potential risks associated with ER004 injection, please ask the study doctor.

So far, ER004 has not been found to have any major significant undesirable side effects, but it is a product in development and may therefore have unknown side effects.

You will be informed about this later on if you decide to participate in the study.
The injection procedure is like an amniocentesis, and we think the risks associated with it are the same. Complications range from mild discomfort at the point of injection to early delivery of your baby, and the potentially serious ensuing health issues for him because of preterm birth. These risks and how likely they are to occur will be made clear to you later on.

Safety of the participant is always our first concern in a research study, and your and your unborn son’s safety will be closely monitored for any untoward occurrences throughout your participation in the EDELIFE study.
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