Pierre Fabre and the EspeRare Foundation administer an experimental treatment to the first patient in the EDELIFE clinical trial for the rare genetic disease, XLHED | Proteins and Peptides

Pierre Fabre and the EspeRare Foundation administer an experimental treatment to the first patient in the EDELIFE clinical trial for the rare genetic disease XLHED

Phase II EDELIFE trial explores potential of pioneering prenatal treatment for XLHED

GENEVA, Switzerland and CASTRES, France I July 1, 2022 I The EspeRare Foundation and the Pierre Fabre Group announce today that the first patient in the EDELIFE clinical trial has received all three injections as planned. The pivotal trial is the first of its kind, as the treatment is given to the baby with XLHED (X-linked hypohidrotic ectodermal dysplasia) while in the womb. The trial aims to confirm the efficacy and safety of ER004 given as prenatal treatment to boys with XLHED.

XLHED is a very rare and debilitating congenital disease that affects approximately 4/100,000 male live births each year. This genetic disease is a dermatological condition that leads to abnormal development of the skin, sweat glands, sebaceous glands, hair, oral cavity and respiratory mucous glands leading to severe clinical manifestations such as hyperthermia, craniofacial abnormalities and recurrent respiratory infections.

The EDELIFE clinical trial is a confirmatory study that will investigate the efficacy and safety of intra-amniotic administrations of ER004 as a prenatal treatment for male fetuses with confirmed XLHED. ER004 is a pioneering in utero therapy designed to replace the function of endogenous ectodysplasin A1 (EDA1), a key protein for the normal development of ectodermal structures in the fetus. If successful, ER004 has the potential to become the first approved “one-drug treatment” administered during the second and third trimesters of pregnancy.

“This is an exciting time for the hypohidrotic ectodermal dysplasia community and for prenatal medical research. For the first time, we can hope to correct core symptoms of XLHED for those diagnosed before birth,” said Caroline Kant. , the co-founder and CEO of the EspeRare Foundation. “We need the support of the XLHED community to ensure that those who could benefit from this unique treatment are aware of the EDELIFE trial.”

A target number of 15-20 baby boys with XLHED will be treated in the EDELIFE trial at 8 centers in Europe and the United States. Clinical centers for the study are now open in Germany, France, Italy, Spain, UK and will soon be opening in the US. A dedicated website (www.EDELIFEclinicaltrial.com) is available to interested families who wish to learn more about the clinical trial and enrollment requirements. Beyond the initial version in English, it will be gradually developed in German, French, Italian and Spanish.

“We are committed to supporting pregnant women with a confirmed diagnosis of XLHED on their treatment journey for their unborn baby boys,” said Dr. Deborah Szafir, Executive Vice President, Head of Medical and Patient Consumer Division at Pierre Fabré. “15 to 20 patients in the clinical trial may seem like a very small number, but given the rarity of the disease, it’s critical that we make the study enrollment process as easy as possible. This includes facilitating the travel of pregnant women to a neighboring country if there is no experimental site open in their country. We at Pierre Fabre are very proud to support people with rare dermatological diseases, as we have already done with success in infantile hemangiomas”.

In the main study phase of the EDELIFE clinical trial, the efficacy and safety of approximately 15 treated children will be evaluated up to the age of 6 months and the safety of mothers will be evaluated up to 1 month after childbirth. In the long-term follow-up phase, the efficacy and safety of treated children will be assessed up to the age of 5 years. The main phase of the clinical study is expected to last until 2025.

The ER004 program in XLHED has received a wide range of regulatory support, including Breakthrough Therapy Designation in 2020 by the United States Federal Drug Administration (FDA). Its clinical development also benefits from the PRIME (PRIority MEdicines) program of the European Medical Agency (EMA).

Details also available at www.clinicaltrials.gov. Study NCT04980638

XLHED is a serious genetic disease that affects the structure of the ectoderm, the outermost part of the three primary germ layers formed early in embryonic life, from which the skin and its appendages derive. XLHED is caused by mutations in AED, a gene that codes for an important developmental signaling protein, EDA1. Absence of functional EDA1 in the ectoderm results in abnormal development of skin, sweat glands, sebaceous glands, hair, oral cavity, and respiratory mucosal glands.

About ER004
ER004 is a pioneering in utero therapy designed to replace the function of endogenous ectodysplasin A1 (EDA1), a key protein for the normal development of ectodermal structures in the fetus. ER004 is a recombinant, soluble and humanized form of EDA1 administered as a single treatment and administered by intra-amniotic injections at the end of pregnancy. This approach has already shown promising potential in humans where it has restored sweat gland function in three patients treated in this way by Professor Holm Schneider at University Hospital Erlangen in Germany. The 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.

About the EspeRare Foundation
EspeRare is a Swiss non-profit organization founded in 2013 committed to improving 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 investment to develop and bring these discontinued therapies to life. With its unique patient-centered approach to drug development, EspeRare engages the patient community every step of the way, with the goal of giving children and their families equitable access to these therapies and new hope for the future. coming.
For more information, please visit www.esperare.org

About Pierre Fabre
Pierre Fabre is the 2nd largest dermo-cosmetics laboratory in the world, the 2nd largest private French pharmaceutical group and the leader in France for products sold without a prescription in pharmacies. Its portfolio includes several medical franchises and international brands including Pierre Fabre Oncologie, Pierre Fabre Dermatologie, Eau Thermale Avène, Klorane, Ducray, René Furterer, A-Derma, Naturactive, Pierre Fabre Oral Care.
In 2021, Pierre Fabre achieved 2.5 billion euros in sales, of which 66% internationally.
Established in the South-West of France since its creation, the Group manufactures more than 95% of its products in France and employs some 9,500 people worldwide. Its products are distributed in approximately 115 countries.
Pierre Fabre is 86% owned by the Pierre Fabre Foundation, a recognized public utility foundation, and secondarily by its own employees through an international employee shareholding plan.
For more information on Pierre Fabre, visit www.pierre-fabre.com@PierreFabre.


  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 English 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 disease. Stower H. Nature Medicine 2018; 24:702

THE SOURCE: Pierre Fabre, EspeRare Foundation

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