The NFED Played Pivotal Role in the Research
(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.”
Edimer is currently looking for women that know or suspect that they are XLHED carriers who are pregnant or thinking of becoming pregnant. Baby boys that are born in the next 18 months may be eligible to participate in a study of EDI200, a potential treatment for XLHED.
If you are pregnant or thinking of becoming pregnant and if you are interested in learning more, email Ramsey Johnson at Edimer or call him at 617-758-4305 or email Dr. Ken Huttner or call him at 617-758-4303.
Hypohidrotic ectodermal dysplasia is, perhaps, the most common type of ectodermal dysplasia, and for decades has received a great deal of attention because of its striking physical features. Individuals affected by HED have sparse hair that is lightly pigmented, congenital absence of most teeth, and a greatly reduced ability to sweat. Diagnosis is sometimes possible at birth. In many cases, newborns have dark circles around their eyes because that skin is thin and the underlying blood vessels create a bluish shadow. The skin also may appear to be “peeling” at birth. Infants may not be able to tolerate heat and may be irritable in warm environments or may have unexplained fevers. More often, the diagnosis is not made until the teeth do not erupt at the expected age or the teeth appear to be pointed when they do erupt. Eruption may be delayed, or only a few teeth may erupt. With the exception of heat intolerance, general health and overall development, including intelligence, is within normal limits. Affected individuals may have a higher than average frequency of ear wax impaction, dry nasal concretions, respiratory illness, sinusitis, or sparseness of tears and saliva. Nails, facial hair in males, and the appearance of pubic hair in adolescence are normal.
Ectodysplasin – A1 (EDA-A1) is a protein that occurs naturally in healthy people where it is involved in the formation and development of skin and teeth. This protein is missing in patients with XLHED. EDI200 is a form of EDA-A1 being developed by Edimer Pharmaceuticals as a treatment for patients with XLHED.