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XLHED Clinical Trials


The ED Society continue to support this research, which is focusing on treatment to correct some of the symptoms in X-Linked Hypohidrotic Ectodermal Dysplasia.

We will keep you up to date with all the latest news and how you can get involved with this exciting research.

What’s the latest?

Great news – the UK EDELIFE website is now LIVE!

If you are affected by X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED), or you are a carrier of the gene for XLHED, you may be interested in learning more about a clinical trial being conducted by the Esperare Foundation and their partner, Pierre Fabre Medicament, to treat boys affected by XLHED before birth.

The recruitment stage is now open – please read the below leaflets and get in touch if you fit the criteria and wish to be a part of this ground-breaking research.


EDELIFE Information Leaflet UK 2022

Patient Invitation Letter UK 2022

Information for Families UK 2022

January 2022

The XLHED clinical trial is open to pregnant women who have not yet reached the 23rd week of pregnancy, have a genetic confirmation of their XLHED status and have their unborn son affected.

Pregnant women will be enrolled in the study at investigational centers in Europe and in the USA, under the care of clinical experts.

Clinical trials are a crucial part in finding treatments for Ectodermal Dysplasias. Clinical research involves testing of drugs, devices and/or other treatments in humans to determine if they are safe and effective.

Twin babies treated with ER004

In 2020, EspeRare entered into a partnership with the Pierre Fabre group to develop ER004, a novel in utero protein replacement therapy for the treatment of X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED), a rare pediatric genetic disease.

With Pierre Fabre, EspeRare is fortunate to have found a partner that shares common values and patient-centered commitments.

The Breakthrough Therapy Designation has been granted following the promising results from three XLHED subjects, who were treated by Professor Holm Schneider with a course of ER-004 intra-amniotic injections during the third trimester of pregnancy. These results, demonstrating that this prenatal treatment has a profound and life-changing effect on these infants, were published in the New England Journal of Medicine.

Prof Holm Schneider
Prof. Holm Schneider

“Rare diseases, such as XLHED, often don’t receive the attention and research investments that patients and their families deserve. The FDA’s decision to grant Breakthrough Therapy Designation to ER-004 for the prenatal treatment of XLHED represents a significant milestone for patients, and EspeRare alike, in highlighting the severity of this condition and the importance of offering a potential first therapeutic option to this underserved patient population,” said Caroline Kant, EspeRare’s Executive Director. “This innovative treatment approach has the potential to fundamentally change the lives of these patients, and may also pave the way for other prenatal treatments to correct genetic conditions before birth. We look forward to continuing to work closely with the XLHED patient community towards these goals.”

Video- https://mma.prnewswire.com/media/1200225/EspeRare_s_ER_004_in_XLHED_program.mp4

Pierre Fabre
research logo

About the XLHED Newborn Clinical Trial

Clinical trials are a crucial part of finding treatments and cures for ectodermal dysplasias. Clinical research is carried out with drugs, devices or other treatments which are tested in humans to see if they are safe and effective.

Edimer Pharmaceuticals’ XLHED Newborn Clinical Trial began back in 2013, and was the first one to test a potential treatment for an ectodermal dysplasia. They tested the use of EDI200, a protein therapy, to treat the symptoms of 10 new-borns affected by x-linked hypohidrotic ectodermal dysplasia (XLHED). This trial completed recruitment in 2015, however, they didn’t see significant changes in sweat gland function and other early markers of biologic activity.

Edimer and the research investigators involved came to the conclusion that the babies didn’t receive the protein early enough to have a significant impact. One of the investigators, Dr. Holm Schneider, had successfully explored a way of earlier dosing that would work not only in animal models, but also in affected humans.

As a result of his research findings, he dosed twin boys with XLHED in utero in the spring of 2016 and a third infant a few months later. All three treated children have since been able to sweat normally and have had no problems during summer time. They also show normal saliva production and clearly more tooth germs of the secondary dentition than their untreated affected brothers.

What is ER-004?

Dr. Holm in Lab
Prof. Holm Schneider in the lab

In 2017, Esperare picked up where Edimer Pharmaceuticals left off and were exploring the possibility of re-launching the development of ER-004 (formerly known as EDI200) as a treatment for babies affected by XLHED.

ER004 is a synthetic form of Ectodysplasin A (EDA), the protein missing in XLHED, during development. Through the years, you have heard us call it APO200 when Apoxis was developing it, then EDI200 when Edimer was involved and now it is called ER-004.

It is the first and only therapy developed for XLHED. This is cutting edge research and a highly innovative therapy.

We will continue to share information about any clinical trials for Ectodermal Dysplasias. For research and clinical trials to happen, we value the continued support and help of affected individuals to be willing to participate in research.

Learn more about clinical trials at ClinicalTrial.gov.

Press Releases

Pierre Fabre and the EspeRare Foundation have announce start of EDELIFE clinical trial November 2021

ER-004 clinical trial now available – ClinicalTrials.govAugust 2021

Prenatal Treatment ER-004 in X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)  July 2020

Two Partners Re-Launch XLHED Research Study April 2019

The Edimer X-Linked Hypohidrotic Ectodermal Dysplasia Newborn
Boys Study
March 2019

XLHED Treatment – From Set Back to Renewed HelpSummer 2017