National Foundation for Ectodermal Dysplasias

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ectodermal dysplasias through education, support, and research.

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NFED Founder’s Reaction to EDI200 Clinical Trial

It's a Story for the AgesMary K. Richter, NFED Founder

October 8, 2013

By Mary K. Richter

NFED Founder and Executive Director from 1981-2010


It seemed like such a simple thing; start a research fund and fund a project.  Never did such a simple thing develop into something so important and so successful as to offer a cure for a condition in less than 25 years.   That’s the beginning and the end but there was a whole lot going on in the middle. 

Dr. Jonathon Zonana at Oregon Health and Sciences University became the first NFED funded scientist whose mission was to find the gene for x-linked hypohidrotic ectodermal dysplasia (XLHED).  With additional funding from the National Institute of Dental and Craniofacial Research and collaboration with Dr. Juha Kere, the gene was found in 1996.  That was cause for celebration as it led to genetic testing which enabled families to learn more about the gene’s presence and its implications for future generations.  That, in and of itself, was of great importance, however, that is not the end of the story by a long-shot.

A Swiss researcher identified the protein which was absent from the gene, a key piece of information necessary for everything that came next.  An idea blossomed that if a way could be found to reinsert the protein into the gene perhaps the errant gene could be coaxed to function as it should thereby nullifying the impact of the condition. 

As is typical in research, there were trials and errors but ultimately success was realized in animal studies with mice and then dogs.  What followed next were human adult trials to assure the safety of the protein, which were equally positive.  With appropriate international approvals, the search began for a family willing to try the treatment on a newborn child. 

As I sit at my computer this morning, I am absolutely amazed and delighted to learn that indeed the first infant has received the treatment and now we await the results.  If the treatment is as successful in the baby as it has been in mice and dogs, he will not need to undergo a lifetime of extraordinary dental care, he may have nearly normal amounts of hair and may be less troubled by inactive sweat glands.

I’ve been asked for my reaction to all of this.  The news is overwhelming.  Who would have thought that a little organization started in Mascoutah, Illinois could stimulate something so magnificent?  It is a story for the ages…one of hope, persistence and help from a lot of people.  Many share in this success; obviously the researchers but also theNFED staff, volunteers who give of their talents, donors without whose support none of this would have happened and families along the way who were eager to participate in the studies when asked.

It is a day of celebration and a day for giving thanks. To have been a part of it all defies description.

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