Phase 2 trials begin for XLHED treatment

Clinical trials commenced last week for what may be the first protein therapeutic for X-linked hypohidrotic ectodermal dysplasia (XLHED).

Edimer Pharmaceuticals announced the dosing of the first XLHED-affected neonate in a phase 2 trial of the company’s recombinant protein known as EDI200.

An ectodysplasin replacement protein, EDI200 works by replacing EDA-A1, which is vital in regulating skin and tooth development. Patients in the trial will receive five doses of EDI200 over the course of two weeks, according to a news release.

XLHED is an extremely rare and potentially life-threatening disease associated with lack of sweat glands, respiratory problems, and hair and tooth deformities. It affects as few as six out of every 100,000 male births worldwide. Symptoms include diffuse, scaly erythema (sometimes mistaken for a collodian membrane or an ichthyotic disorder), frontal bossing, retruded midface, saddle nose, and thick everted lips. Sufferers of the disease often present in infancy with unexplained fevers due to the absence of sweat glands.

Individuals affected with XLHED are at risk for serious and potentially fatal hyperthermia, respiratory infections, febrile seizures, and, rarely, neurologic damage.

“The completed dosing of the first patient in the neonate study of EDI200 represents a significant milestone,” Edimer President and CEO Neil Kirby, Ph.D., said in a news release. “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 selfless 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.”