Country for PR: United Kingdom
Contributor: PR Newswire Europe
Monday, December 14 2020 - 09:00
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 and CASTRES, France, Dec. 14, 2020 /PRNewswire-AsiaNet/ --

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 

"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," stated Caroline Kant, 
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,'" commented Eric 
Ducournau, 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. 

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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:


Pierre Fabre is the 2nd largest private French pharmaceutical group and 2nd 
largest dermo-cosmetics laboratory in the world. Its portfolio is made of 
medical franchises (oncology, dermatology, pharmaceutical care) and leading 
dermo-cosmetic brands (Eau Thermale Avène, Ducray, A-Derma, Klorane, René 
Furterer, Pierre Fabre Oral Care…).  In 2019, Pierre Fabre generated revenues 
of €2.4 billion, two-thirds of which came from international sales. 
Headquartered in the South-West of France, the Group employs some 10,400 people 
worldwide, owns subsidiaries or offices in 45 countries, and distributes its 
products in over 130 countries. 

86% of the Pierre Fabre group is held by the Pierre Fabre Foundation, a 
government-recognized public-interest foundation, while a smaller share is 
owned by its employees via an employee stock ownership plan.

In 2019, Ecocert Environment assessed the Group's CSR approach in accordance 
with the ISO 26000 sustainable development standard and awarded it the Ecocert 
26000 "Excellence" rating.

For more information, please visit:

Media Contacts:

EspeRare Foundation;

Pierre Fabre         
Anne Kerveillant, Communication Manager

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SOURCE : Pierre Fabre and The EspeRare Foundation