It all started with families giving their blood! It was 1986 and the National Foundation for Ectodermal Dysplasias (NFED) was having a Family Conference in Dallas.
Dr. Jonathan Zonana from Oregon Health Sciences University (OHSU) presented his research to map what gene caused x-linked hypohidrotic ectodermal dysplasia (XLHED). This was the early days of the newly-formed NFED research program. Dr. Zonana was the first researcher the NFED approved to study the condition.
But, he needed blood samples from affected individuals to do his work. Attending a Family Conference to discuss his need for samples from numerous people made the most sense given the rare nature of the condition.
Twenty-six individuals affected by XLHED stepped up to participate in the research! Dr. Zonana and his colleagues mapped the gene in 1987 and were a part of the international team which identified the gene as EDA in 1996. It was the first but certainly not the last time that affected individuals played a critical role in a researcher’s success.
The First Therapy Before Birth
Fast forward to today. Ten families affected by XLHED have chosen to participate in the Edelife Clinical Trial for XLHED. Each family chose for their sons with the condition to receive an investigational treatment before they were born. The trial’s purpose is to help scientists determine that the treatment is safe and indeed improves the symptoms of the syndrome.
Providing researchers with access to affected individuals is one of the NFED’s most critical roles in advancing research.
But, you – our families – are the ones to celebrate. Between those first blood draws to the current trial, you have filled out surveys, had measurements taken, provided skin biopsies and more. You have always understood that your participation would help us learn more about XLHED and hopefully develop better treatments. Whenever asked to participate in research, families have answered in a big way.
Here’s an extraordinary thing that we are proud of. As far as we know, ER004 is the first therapy of its kind to treat ANY genetic condition before birth. That’s incredible to think about: this nonprofit which started at our founder’s farmhouse kitchen table has started and led research to develop the first therapy of its kind in the world! It’s an extraordinary research success story that the entire NFED family should celebrate.
How You Can Help
But before we celebrate too much, we must complete the trial to demonstrate its effectiveness. The Edelife Clinical trial still needs 5-10 more women who are pregnant with sons affected by XLHED to participate. This treatment has the potential to transform lives, but your involvement is essential to proving its effectiveness.
If you’re an individual or family affected by XLHED, now is your chance to be part of something truly revolutionary.
- Are you a man who is affected by XLHED? Please share information about Edelife with your adult daughters, granddaughters, nieces and sisters who may have the gene.
- Are you a woman who has the XLHED gene and is pregnant or considering pregnancy? You can learn more about the trial on our site or by contacting me.
Choosing to participate in any research is a personal decision. Always keep in mind that your participation may or may not help your child because the treatment is investigational. But your involvement would definitely help advance the research to know if the treatment does indeed work. That has the potential to bring the treatment to market sooner and help future generations.
Milestones on the Journey to XLHED Research Success
Here are some highlights from almost 40 years of XLHED research.
- After the gene was identified, the NFED funded work which identified that the EDA gene was not producing one protein. That missing protein is why the hair, sweat glands, teeth, and other glands of the body do not develop normally.
- The NFED funded two researchers who created a synthetic protein in the lab (we call it ER004) that mimics the missing gene.
- Researchers administered the protein in mice and dogs. They had improvements in sweat ability and dentition.
- Edimer Pharmaceuticals dosed 10 newborn males with ER004 in the Newborn XLHED Clinical Trial. Unfortunately, given after birth, the treatment was not effective. We learned that the protein must be administered before birth when the fetus is still developing.
- Dr. Holm Schneider treated six babies before birth with the synthetic protein ER004 in Germany. Published data show that all are sweating normally, have no respiratory issues, and other improved symptoms.
The EspeRare Foundation and Pierre Fabre are seeking to confirm Dr. Schneider’s findings in the Edelife Clinical Trial.
The Formula for XLHED Research Success
The success of NFED’s XLHED research is built on a simple but powerful formula:
- Family participation – Your commitment makes all the difference.
- Seed grants – Small investments that lead to big discoveries.
- Generous donors – Financial support that powers research.
- Brilliant researchers – Experts who are passionate about finding solutions.
- Endless determination and grit – Because research in rare diseases isn’t a sprint; it’s a marathon.
Together, these elements combine to create a pathway for progress—and they’ve already brought us incredibly far. But there’s still work to do.
As we continue to push forward, let’s take a moment to celebrate how far we’ve come. Thanks to the dedication of families and the NFED, we’re on the brink of something truly extraordinary: the possibility of a therapy that could change the lives of future generations affected by XLHED.
We’ve proven that when families, researchers, and supporters come together, anything is possible. Now, let’s keep moving forward. We’re closer than ever to a future where XLHED no longer limits what’s possible!
Read the Full Timeline of XLHED Research