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Information for Patients – Orphan Disease Resources

Edimer Pharmaceuticals is focused on X-linked Hypohidrotic Ectodermal Dysplasia (XLHED), a rare genetic disease with orphan designation in the U.S. and Europe. According to the US Rare Disease Act of 2002 a rare disease is defined by the prevalence as “any disease or condition that affects less than 200,000 persons in the United States,” or roughly about 1 in 1,500 people. The European Medicines Agency (EMEA) designates a medicinal product as an orphan medication if it is intended for the diagnosis, prevention or treatment of a life-threatening or chronically debilitating condition affecting no more then 5 in 10,000 in the European Union. Prevalence of XLHED is still being studied, although current estimates range anywhere from 1 in 10,000 to 1 in 100,000 males are affected with XLHED.

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