ER-004 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. Since that time, we have led an ongoing effort to find a potential treatment. In the early 2000s, a synthetic protein, ER-004 (formerly called APO200 and EDI200), was developed to replace the nonfunctioning protein in the EDA gene. Researchers administered ER-004 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.

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 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 EDI200 into the mother’s amniotic fluid, prior to birth.

In 2016, Dr. Schneider engaged in a “Trial to Cure” which is a legal possibility under the German law to dose. He administered ER-004 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.

READ HOW EDI200 IMPACTED THE THREE BOYS 

Next Steps

Because the Trial to Cure only involved three babies, we must study the prenatal use of ER-004 on a larger number of babies affected by XLHED. The EspeRare Foundation in Switzerland plans to initiate a clinical trial in 2019 at three centers in Germany. Further down the road, they hope to expand the study to France, the United Kingdom and the United States.  We will post more information about the clinical trial when it is available.

We received the following update from EspeRare in September of 2018:

“Since acquiring the rights to the project from Edimer in April 2018, EspeRare has submitted their final Briefing Package to the EMA (European Medicines Agency). Feedback from the Agency is expected in November 2018 and will help finalise some keys points for the clinical study. In the meantime, all activities needed to launch this clinical study are still being put into place, and, at this present time, EspeRare is on track for the study to start in Germany in Q2 2019.

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XLHED Natural History Study

Dr. Holm Schneider is completing this study first launched by Edimer Pharmaceuticals in 2014. The data of how XLHED develops naturally will help him understand the effects of ER-004 in the prenatal trail.

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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.

Research is at a Critical Point

Preliminary results show the potential to alleviate two symptoms of the most common ectodermal dysplasia. But we need your help to fund this project and others.

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Research Articles

Following are links to XLHED research articles.