Edimer Pharmaceuticals began the Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Study  in 2014 and enrolled about 150 boys and girls under the age of three who are affected by XLHED. They captured information on how XLHED affected them.

When Edimer closed its doors, Dr. Holm Schneider took over the study. The results are critical as we move to the next stage of XLHED research with the prenatal trial. Recognizing this importance, we have granted funding to Dr. Schneider to help him complete the study.

Understanding the natural progression of XLHED will help us understand the effects that treating the babies in-utero with the protein ER-004 has on their symptoms. The information from the Natural History Study will make it easier to evaluate the effects of the treatment to see if the therapy changes the course of the syndrome progression and quality of life of the affected individuals.

The following is an update from Dr. Schneider and his team on the study.

By Dr. Holm Schneider and His Team

Thanks to the National Foundation for Ectodermal Dysplasias (NFED) funding, this important study is running as planned and will be completed in December 2018. Boys and also some girls with x-linked hypohidrotic ectodermal dysplasia (XLHED), all enrolled before 36 months of age, have been followed continuously until their 5th birthday, some over more than four years.

So far, 24 of 25 infants have completed the study. We are happy to report that full data sets, including data on growth and development, sweat ducts, respiratory issues, eye surface involvement, facial characteristics, primary dentition, secondary tooth germs, adverse events, and medication during the study period, are available for each of these children.

There has been not a single drop-out of patients enrolled in the years 2014 and 2015, but this required substantial efforts. For example, Dr. Schneider recently had to travel to Murcia,  Italy to perform the final examination of an Italian patient whose family was unable to keep the appointment in Erlangen because of a missing passport.

Many data from the XLHED Natural History Study have to be reported by the end of 2018 to the health authorities which then decide on the start of the prenatal trial with the EDA1 replacement protein. Later on, the data will also be published in a scientific journal.

Dr. Schneider will follow-up with these two boys who received ER-004 in utero to collect data on its effects.

In addition, Dr. Schneider’s team plans to continue the long-term follow-up of the four XLHED patients who were treated as neonates in Erlangen (together with their untreated male siblings, three older brothers in total) and of the three infants who were treated in utero. All of them will be followed until five years of age, which requires continuous support of this extension study by the NFED.

2 comments on “Update on the XLHED Natural History Study”

  1. 1
    Nhu on July 13, 2020

    I’m 22 weeks pregnant and a boy has the HED gene. How do I access this doctor’s experimental treatment?. I am in Vietnam and my email vuonglannhu89@gmail.com

    1. 2
      Jodi Edgar Reinhardt on July 13, 2020

      Hello. I have shared your message with our director. Mary Fete is going to email you. ~ Jodi, NFED Director, Marketing and Communication

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