The EspeRare Foundation and Pierre Fabre join forces to develop and market a pioneering treatment for XLHED
14 December 2020
The EspeRare Foundation and Pierre Fabre join forces to develop and market
a pioneering treatment for XLHED, a dermatologic-related rare genetic disease
that requires prenatal therapeutic intervention
Geneva (Switzerland) and Castres (France), December 14th, 2020 – The EspeRare Foundation and the Pierre Fabre group announced today that they have entered into a license and development collaboration agreement for the development and commercialization of ER-004, a prenatal treatment for XLHED (X-linked Hypohidrotic Ectodermal Dysplasia), a rare, debilitating congenital disease. 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 pool their respective expertise together in order to co-develop ER-004. The Pierre Fabre group will be granted exclusive worldwide rights for the development, manufacturing and commercialization of ER-004.
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 pioneering 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. This approach has already demonstrated a significant potential in humans where it normalized sweat gland function in three patients treated in this fashion by Prof. Holm Schneider at the University Hospital Erlangen in Germany. First results were published in the New England Journal of Medicine1 and in the British Journal of Clinical Pharmacology2 as well as featured in Nature Medicine’s Research Highlights3.
At EspeRare we are thrilled to collaborate with the Pierre Fabre Group to co-develop this very inspiring program. 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
Executive Director of the EspeRare Foundation
We are proud to ally with the EspeRare foundation to find a therapeutic solution to a debilitating disease affecting 500 babies worldwide every year. We cannot think of a better way to epitomize our corporate purpose: “Every time we take care of one single person, we make the world better"
CEO of the Pierre Fabre Group
EspeRare, a non-profit organization committed to finding treatments for rare diseases, and the Pierre Fabre Group, a major stakeholder in health care for nearly 60 years, owned by the Pierre Fabre Foundation, both share a common engagement for patients and are committed to dedicate their expertise to discover innovative therapeutic solutions that can transform patients’ lives. This collaboration agreement materializes EspeRare’s and Pierre Fabre’s objective to pave the way for treatment supporting underserved patients affected by rare diseases.
1. Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. Schneider H, Faschingbauer F, Schuepbach-Mallepell S, Körber I, Wohlfart S, Dick A, Wahlbuhl M, Kowalczyk-Quintas C, Vigolo M, Kirby N, Tannert C, Rompel O, Rascher W, Beckmann MW, Schneider P. N Engl J Med 2018; 378: 1604-1610
2. Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects. Körber I, Klein OD, Morhart P, Faschingbauer F, Grange DK, Clarke A, Bodemer C, Maitz S, Huttner K, Kirby N, Durand C, Schneider H. Br J Clin Pharmacol. 2020;86(10):2063-2069
3. In utero correction of a genetic disorder. Stower H. Nature Medicine 2018; 24: 702
XLHED is a severe, chronically debilitating and rare disease affecting approximately 4/100,000 live male births every year. XLHED is caused by mutations in EDA, a gene that encodes an important developmental signaling protein, EDA1. The absence of functional EDA1 in the ectoderm results in abnormal development of the skin, sweat glands, sebaceous glands, hair, oral cavity, and respiratory mucosal glands resulting, as early as from birth, in serious clinical manifestations including hyperthermia, craniofacial anomalies and recurrent respiratory infections that impair quality of life in patients and their families.
For more information, please visit www.omim.org
About THE ESPERARE FOUNDATION
EspeRare is a Swiss non-profit organization founded in 2013 that is committed to improve the lives of children with life-threatening rare diseases. EspeRare addresses the unmet medical needs of these children by uncovering the potential of existing treatments. EspeRare’s innovative model combines pharmaceutical know-how with philanthropic, public and private investments to develop and bring to life these discontinued therapies. With its unique patient-centered approach to drug development, EspeRare engages the patient community at each step of the process, with the intent of giving children and their families fair access to these therapies and a new hope for the future.
For more information, please visit www.esperare.org
Anne Kerveillant – Relations Presse
Tel. : +33 1 49 10 81 60