We first started researching XLHED in the late 1980s. Since that time, we have led an ongoing effort to find potential treatments. We are excited to have one in clinical trial right now! In preliminary studies, six babies who received the therapy before birth developed normal sweat glands, an increased number of teeth and other improved symptoms. The clinical trial, called EDELIFE, aims to confirm these findings. If approved, the treatment would go to market!

RECOMBINANT PROTEIN AS A PRENATAL TREATMENT


The gene that causes x-linked hypohidrotic ectodermal dysplasia (XLHED), EDA, was discovered in 1996 by an international team of researchers. In the early 2000s, a synthetic protein called ER-004 (formerly called EDI200 and APO200), was developed to replace the nonfunctioning protein in the EDA gene. Researchers administered the protein to mice and dogs with XLHED and had promising results. Since that time, there have been a series of human studies indicating the treatment is safe.

EDLIFE Clinical Trial

EspeRare and Pierre Fabre are developing ER-004 as the in utero protein replacement therapy for XLHED. They began a clinical trial called EDELIFE, with the goal to confirm the findings of Dr. Holm Schneider’s Trial to Cure (which you can read about below). If this treatment is found to be successful and it is approved, it could be the first treatment of its kind to correct a genetic condition before birth. The trial is enrolling patients at six centers around the world. Find out if you are eligible to participate.

Learn About EDELIFE Clinical Trial

Past Studies


Beth, Steve and Liam participated in the Newborn XLHED Clinical Trial
Beth, Steve and Liam participated in the Newborn XLHED Clinical Trial

Newborn XLHED Clinical Trial 

In the Newborn XLHED Clinical Trial, 2013-2016, Edimer Pharmaceuticals evaluated whether the recombinant protein, then called EDI200, had any impact on the symptoms of children affected by XLHED, including the early development of teeth, sweat glands, hair follicles and more. Ten babies participated.

Unfortunately, the clinical trial did not achieve its expected outcomes. There were some modest signs of improvement in the development and function of various body parts that XLHED affects. However, they didn’t see significant changes in sweat gland function and other early markers of biologic activity. That trial closed and Edimer shut its doors.

These twins participated in the Trial to a Cure.

Trial to Cure

Dr. Holm Schneider from Erlangen, Germany was one of the initial primary investigators in the Newborn XLHED Clinical Trial. He and other investigators believe that dosing after birth is too late to impact the development of sweat glands and other key markers. They believe the dosing needs to occur by injecting the recombinant protein into the mother’s amniotic fluid, prior to birth.

In 2016, Dr. Schneider engaged in a “Trial to Cure” which was a legal possibility under the German law to dose. He administered the recombinant protein to three babies in utero who were affected by XLHED. He and his team of German researchers published their amazing findings in the New England Journal of Medicine in April of 2018. They published their long-term research results in 2023 in the International Journal of Molecular Sciences which confirmed that giving the treatment before birth led to normal sweat gland development.

Read How the Protein Impacted the Boys

XLHED Natural History Study

Dr. Holm Schneider completed the first part of the Natural History Study launched by Edimer Pharmaceuticals in 2014. Twenty-five children were examined up to age five. They can now compare this data of how XLHED develops naturally with the data from babies treated with the recombinant protein in the prenatal trial to determine if it works. We are proud to have helped fund this project.

READ STUDY FINDINGS 

Learn more about the history of XLHED research that the NFED has initiated and families have advanced. Also, Dr. Magi Casal continues to research treating the respiratory issues in dogs with XLHED.

Shape Our Futures With Research

Ectodermal dysplasia can cause a lifetime of challenges. By supporting research, you expand early diagnostics, treatments, pathways toward cures… and hope!

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Research Articles

Following are links to XLHED research articles.