EspeRare Foundation and Pierre Fabre Collaborate to Market XLHED Therapy

Rare Daily Staff

The Swiss nonprofit EspeRare Foundation and the privately held French pharmaceutical Pierre Fabre Group said that they have entered into a license and collaboration agreement for the development and commercialization of ER-004, a prenatal treatment for X-linked hypohidrotic ectodermal dysplasia, a rare, debilitating congenital disease.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a genetic disorder that affects the structure of the ectoderm, the most exterior part of the three primary germ layers formed during early embryonic life, from which the skin and its appendages are derived.

ER-004 is an in-utero therapy designed to replace the function of endogenous ectodysplasin A1 (EDA1), a protein key to the normal development of ectodermal structures in the fetus. ER-004 is a recombinant, soluble, and humanized form of EDA1 that is given as a single course treatment and delivered through intra-amniotic injections during the late stage of pregnancy.

The approach has demonstrated potential in humans where it normalized sweat gland function in three patients treated in this fashion at the University Hospital Erlangen in Germany. First results were published in the New England Journal of Medicine and in the British Journal of Clinical Pharmacology, as well as featured in Nature Medicine’s Research Highlights.

The next clinical study is expected to start in 2021 and will aim at qualifying and registering what may become the first approved treatment for XLHED by 2026. 

According to the terms of the agreement, EspeRare and the Pierre Fabre Group will co-develop ER-004. The Pierre Fabre Group will be granted exclusive worldwide rights for the development, manufacturing, and commercialization of ER-004.

“We are confident that joining forces with Pierre Fabre will allow to bring this ground-breaking therapy to XLHED patients in alignment with our patient-centered values,” said Caroline Kant, executive director of the EspeRare Foundation.

Photo: Caroline Kant, executive director of the EspeRare Foundation.