A new treatment that could help children born with a rare genetic condition has been developed at the Washington University School of Medicine in Missouri based on a two-decades-old discovery by a researcher now at the Greenwood Genetic Center.
The condition, ectodermal dysplasia, anhidrotic, or EDA, causes sparse hair, abnormal or missing teeth and no sweat glands and largely affects boys, according to the center. An inability to sweat can lead to hyperthermia, which can cause brain damage, officials said.
The new treatment, which is in clinical trials now, is a recombinant protein that initiates a cascade of molecular and cellular events that leads to the proper development of hair, teeth and sweat glands, said Dr. Anand Srivastava, associate director of the JC Self Research Institute’s Center for Molecular Studies at GGC.
Prior to arriving at GGC in 1995, Srivastava identified the gene that causes EDA while he was a researcher at Washington University, according to the center. In the intervening years, he and a team of international colleagues continued to work on the condition.
The drug, which was developed by Edimer Pharmaceuticals, has been shown to correct some of the symptoms of the condition, officials said.
“This drug is showing great promise as a therapy and potential cure for patients with … EDA,” said Srivastava. “We are so excited that our work here at GGC has been instrumental in the understanding of this disease that has led to this breakthrough.”
Clinical trials began in 2012 that call for five doses of the drug administered intravenously during the first month of life, officials said.
“This is a great success story of a disease gene discovery leading to diagnosis and treatment,” said GGC director Dr. Steve Skinner, “and exemplifies the importance of partnerships between research laboratories, clinicians and industry to achieve treatment realities for many genetic disorders.”