National Foundation for Ectodermal Dysplasias

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ectodermal dysplasias through education, support, and research.

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First Baby Dosed in Clinical Trial for XLHED

New Treatment for Rare Disorder Could Improve Ability to Develop Teeth, Hair and Sweat Glands

The NFED Played Pivotal Role in the Research

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(FAIRVIEW HEIGHTS, IL) – Families affected by a rare genetic disorder called x-linked hypohidrotic ectodermal dysplasia (XLHED) have hope for a new treatment being tested that would help correct developmental defects of the condition. Edimer Pharmaceuticals announced that they have initiated phase two of the clinical trial for EDI200, a potential therapy for XLHED, and dosed the first baby. For more than two decades, the National Foundation for Ectodermal Dysplasias (NFED) has been the catalyst and supporter of XLHED research that paved the way for this clinical trial.
XLHED is the most common ectodermal dysplasia and features multiple malformed and missing teeth, the inability to perspire and sparse hair.  NFED founder and retired executive director Mary Kaye Richter said she is absolutely amazed and delighted to learn that the first infant has received the treatment.
“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,” Richter said. “The news is overwhelming.  Who would have thought that a little organization founded 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.”
“The Edimer run clinical trial to replace the missing EDA protein in individuals unable to produce EDA normally is an incredible potential breakthrough for individuals with XLHED. and their families,” said Tim Wright, D.D.S., M.S. of the University of North Carolina at Chapel Hill and NFED’s Scientific Advisory Council. “For the first time, a therapy is being tested that would help reverse some of the developmental defects that occur in developing infants as a result of not having the functional EDA protein. Animal studies suggest that this therapy can help teeth to grow when they would not have and there may be benefits to sweat gland and hair formation that will be evaluated as part of the study.”
The NFED, which serves individuals affected by ectodermal dysplasias in 75 countries, initiated this research according to Wright.
“In the early 1980s, the NFED began the journey of bringing together clinicians, researchers and families to address the complex issues of ectodermal dysplasias and management of these diverse hereditary conditions,” Wright said. “The NFED has strongly supported the research that evaluated this new EDA replacement therapy in animals helping set the stage for the human studies now underway.  The Foundation has played a critical role in helping connect families with XLHED-affected individuals with the doctors and researchers at Edimer.  Without the NFED, support of basic research and its extensive network of family connections, it is highly unlikely that this unique protein replacement therapy would be at the stage of testing that it is today.”
According to Anil Vora, President of the Board of Directors at the NFED, “We are incredibly proud of the NFED families who have stepped up to volunteer for every research project in this battle to find a cure. We are grateful to all of the donors who contributed to our vision.  We look forward to learning the outcomes of this clinical study.”
“Completion of dosing in the first neonate subject is a significant milestone for Edimer and those affected with XLHED,” Neil Kirby, Ph.D., President and CEO of Edimer. “Today is the culmination of several years of dedicated and impassioned work by the Edimer team and our external collaborators.  We celebrate the courage of conviction that supported the science at the foundation of EDI200’s development and the participation of those involved in the clinical trials who share our goal to create a clinically-significant, life-long health benefit for those affected with XLHED.”
About the Ectodermal Dysplasias
The ectodermal dysplasias are genetic conditions that involve defects in the hair, teeth, nails and sweat glands. Other parts of the body also may be affected. There are more than 180 different ectodermal dysplasias which are recognized by the combination of physical features an affected person has and the way they are inherited.  Symptoms can range from mild to severe. X-linked hypohidrotic ectodermal dysplasia is the most common syndrome and features multiple malformed and missing teeth, the inability to perspire and sparse hair. Only in rare cases does ectodermal dysplasia affect lifespan and very few types involve learning difficulties. The ectodermal dysplasias affect men, women and children of all races and ethnic groups.  According to the Birth Defects Encyclopedia as few as one or as many as 7 in 10,000 babies are born affected by an ectodermal dysplasia.
About the National Foundation for Ectodermal Dysplasias (NFED)
The NFED is the leading resource in the world serving the ectodermal dysplasias community. The mission of the NFED is to empower and connect people touched by ectodermal dysplasias through education, support and research.  Located in Fairview Heights, Ill., the Foundation is in contact with more than 6,800 families in 75 countries.  Seventy-five cents of every dollar raised is spent on education, support and research.  The NFED is a private, tax-exempt, not-for-profit organization pursuant to section 501(c)(3) of the Internal Revenue Code.
About EDI200
EDI200 is an ectodysplasin-A (EDA-A1) replacement protein, representing the first of a new class of molecules rationally designed to correct a specific developmental disorder.  EDI200 has been shown to bind specifically to the EDA-A1 receptor, activating the signaling pathways that lead to normal development.  EDI200 has demonstrated substantial and durable efficacy in animal models of XLHED with notable reduction in mortality and morbidity. The U.S. Food and Drug Administration (FDA) granted Orphan Drug designation and Fast Track status to EDI200. EDI200 also has orphan drug designation in Europe.

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