Study on ER004 for Treating Boys with X-linked Hypohidrotic Ectodermal Dysplasia (XLHED)

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What is this study about?

This clinical trial is focused on studying a rare genetic condition called X-linked hypohidrotic ectodermal dysplasia (XLHED). This condition affects the development of certain tissues in the body, leading to symptoms such as reduced ability to sweat, dental issues, and skin problems. The trial is testing a treatment called ER004, which is a special protein designed to help improve these symptoms. The treatment is given as a solution for injection directly into the amniotic fluid surrounding the fetus during pregnancy.

The purpose of the study is to evaluate how effective and safe ER004 is when administered before birth to male fetuses diagnosed with XLHED. The study will compare the sweating ability of treated infants at six months of age with that of untreated relatives who have the same genetic mutation. The trial will also look at other aspects of health, such as dental development, skin condition, and overall quality of life.

Participants in the study will receive the treatment during pregnancy, and the health of the infants will be monitored after birth. This includes checking their ability to sweat, the number of teeth that have developed, and other health indicators. The study aims to provide valuable information on whether this prenatal treatment can help improve the symptoms of XLHED in affected individuals.

1 joining the study

The study involves male subjects diagnosed with X-linked hypohidrotic ectodermal dysplasia (XLHED) and their mothers, who must be confirmed carriers of an EDA mutation.

The mother must be pregnant, with the pregnancy confirmed no later than week 23+6 days.

2 treatment administration

The treatment involves the administration of ER004, a solution for injection, given intra-amniotically. This means the medication is injected into the amniotic fluid surrounding the fetus.

The goal is to assess the efficacy of ER004 on the sweating ability of the fetus, who will be a male subject with a confirmed diagnosis of XLHED.

3 primary assessment

The primary endpoint is to measure the mean sweat volume collected on both forearms after local stimulation with pilocarpine, a substance that induces sweating, at 6 months of age.

4 secondary assessments

Secondary assessments include measuring sweat pore density on the soles of the feet, evaluating dental development by counting erupted teeth and tooth buds, and assessing other factors such as dry eye, salivation, and eczema.

Additional assessments include the number of XLHED-related hospitalizations, safety and tolerability of the treatment, and health-related quality of life.

5 trial duration

The estimated end date for the trial is January 6, 2030.

The recruitment for the trial started on January 6, 2022.

Who Can Join the Study?

For the mother: The mother must be an adult and confirmed to be pregnant no later than 23 weeks and 6 days. She must also be genetically confirmed as a carrier of an EDA mutation. This means she has a specific change in her genes related to the condition being studied.
For the fetus (unborn baby): The fetus must be male and have a confirmed diagnosis of XLHED, which is the condition being studied.
For an untreated relative: There must be an untreated male relative, aged between 6 months and 75 years, who has the same EDA mutation as the treated subject. This means he has the same genetic change related to the condition.

Who Cannot Join the Study?

Only male participants are allowed, so females cannot participate.
Participants must have a specific genetic condition called X-linked hypohidrotic ectodermal dysplasia (XLHED). If you do not have this condition, you cannot participate.
Participants must have a null mutation in EDA. This means a specific change in the gene related to the condition. If you do not have this mutation, you cannot participate.
Participants must be 6 months of age at the time of the study. If you are not this age, you cannot participate.

Where you can join this trial?

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Verified Sites

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Other Sites

Site Name	City	Country
Universitaetsklinikum Erlangen AöR	Erlangen	Germany
Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico	Milan	Italy
University Clinical Hospital Virgen De La Arrixaca	Murcia	Spain
Hopital Beaujon	Clichy	France
Universitaetsklinikum Leipzig AöR	Leipzig	Germany

Trial status

Country	Status	Recruitment Start
France	Recruiting	06.01.2022
Germany	Recruiting	06.01.2022
Italy	Recruiting	06.01.2022
Spain	Recruiting	06.01.2022

Trial locations

Investigated drugs:

Human Immunoglobulin G1 Constant Region – Human Ectodysplasin-A1 Receptor-Binding Domain Fusion Protein

ER004 is a medication being tested as a prenatal treatment for male subjects with a condition called X-linked hypohidrotic ectodermal dysplasia (XLHED). This condition affects the development of sweat glands, among other things. The trial aims to see if administering ER004 before birth can improve the ability to sweat in affected individuals by the time they are six months old.

X-linked hypohidrotic ectodermal dysplasia (XLHED) – This is a genetic disorder that primarily affects the development of the skin, hair, teeth, and sweat glands. Individuals with XLHED often have a reduced ability to sweat, which can lead to overheating. The condition is characterized by sparse hair, missing teeth, and a lack of sweat glands. It is caused by mutations in the EDA gene, which is located on the X chromosome. The disorder is more common in males due to its X-linked inheritance pattern. Symptoms can vary in severity, but the inability to sweat is a key feature.

Trial ID:

2024-512632-30-00

Protocol code:

EDELIFE

NCT ID:

NCT04980638

Trial Phase:

Therapeutic exploratory (Phase II)

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Study on ER004 for Treating Boys with X-linked Hypohidrotic Ectodermal Dysplasia (XLHED)

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