The NFED has been instrumental in funding XLHED research studies for more than 30 years. Our community of families and researchers have been dedicated and diligent, resulting in breakthroughs that could potentially lead to a treatment in the coming years. See our research milestones related to x-linked hypohidrotic ectodermal dysplasia (XLHED) and learn more about our overall research impact.


In 1986, NFED families provided Dr. Jonathan Zonana with blood samples that would lead to the identification of genes for hypohidrotic ectodermal dysplasia (HED) followed by x-linked HED years later. Dr. Zonana received the Kenneth S. Brown Research Award in 1993 in recognition of his lasting contributions, which continue to serve as the foundation of our search for treatments and a cure.

1987 – Dr. Jon Zonana and colleagues mapped the XLHED gene, the first step in identifying it.

1989 – 2003 First of six seed grants given to Dr. Zonana for “Gene Identification in XLHED.” The NFED’s financial and family support for Dr. Zonana enabled him to receive funding from the National Institutes of Health for 12 consecutive years.

1996 – Dr. Zonana and international team of researchers identified the gene for XLHED and provided a drug target for scientists.

2002 – $24,970 given to Dr. Margret Casal at the University of Pennsylvania for “Immune Function in Canine Ectodermal Dysplasia: A Model for a Human Homologue.”

2004 – $20,400 given to Dr. Olivier Gaide at the University of Geneva. He and Dr. Pascal Schneider at the University of Lausanne successfully developed and used a recombinant protein called APO200 (currently named ER-OO4) to replace the missing protein in tabby mice with XLHED.

2007 – Dr. Casal successfully used APO200 (now known as ER-OO4) to treat canine ectodermal dysplasia. The treated canines had significant improvement in dentition and sweat ability.

2008 – $25,000 given to Dr. Casal to study the use of EDA in canines with XLHED.

20092015 The NFED collaborated with Edimer Pharmaceuticals by providing supportive data and resources and granting access to patients for various XLHED research studies.

2010 – The NFED launched the Ectodermal Dysplasias International Registry to capture XLHED data.

2010 – 2011  The NFED collaborates with Edimer to determine the number of sweat glands in skin and their ability to produce sweat. All participating males received genetic testing to build a real natural history of XLHED.

2011 – XLHED families help validate technologies and assessment endpoints for upcoming clinical studies of EDA replacement therapy. This was the largest study of affected siblings ever done with the goal of demonstrating consistent symptoms within families.

2012 – XLHED families provided information for Edimer study that helped develop a completely non‐invasive screening tool that could use a computer program to detect XLHED from a regular photograph of a face.

2013 – 2015 – Edimer dosed 10 newborn males with EDI200 (presently named ER-OO4) in the Newborn XLHED Clinical Trial.

2016 – Dr. Holm Schneider successfully treats three babies with XLHED in utero with the protein, EDI200 (now called ER-004).  Preliminary data showed that the sweat glands developed normally and there was an increased number of tooth buds.

XLHED Research Timeline
Dr. Holm Schneider in the lab

2017- EspeRare resumes development of ER-O04 as XLHED treatment and announces plan to launch a phase II clinical trial. The NFED collaborates with EspeRare to provide data and other support.

2018 – Dr. Holm Schneider publishes further data to show that prenatal treatment restores sweating in XLHED. Babies developed a normal number of functioning sweat glands, had a greater number of teeth, produced normal amount of saliva and had other positive results.  

2018 – Dr. Holm Schneider completed the NFED-funded Natural History Study of XLHED. Data shows the natural progression of the condition.. Researchers will use this data to compare with findings from the phase II clinical trial of ER-OO4.

2018 – EspeRare plans to launch a phase II clinical trial in Europe and later in the United States to confirm Dr. Holm Schneider’s findings of using ER-004 as a prenatal treatment.

2018 – Drs. Johanna Hammersen and Holm Schneider’s study shows ultrasound-based diagnosis of XLHED in mid-pregnancy as a non-invasive method. 

2020 – The United States Food and Drug Administration (FDA) granted Breakthrough Therapy Designation for ER-004 which expedited the process for the EDELIFE Clinical Trial.

2020 – EspeRare partners with the Pierre Fabre group to commercially develop ER-004 and launch clinical trial.

2021 – The EDELIFE clinical trial for XLHED begins in Germany at the University Hospital or Erlangen.

2022 – Additional EDELIFE clinical trial sites open in the United States, France, Italy and Spain.

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