Pierre Fabre and the EspeRare Foundation administer investigational treatment to first patient in EDELIFE clinical trial for rare genetic disease,…

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

GENEVA and Castres, France, July 1, 2022 /PRNewswire/ --The EspeRare Foundation and the Pierre Fabre group announced today that the first patient in the EDELIFE clinical trial has received the three rounds of injection as planned. The pivotal trial is the first-of-its-kind, as the treatment is given to the XLHED (X-linked Hypohidrotic Ectodermal Dysplasia)-affected baby while inside his mother's womb. The trial intends to confirm the efficacy and safety of ER004 given as a pre-natal treatment to XLHED-affected boys.

EDELIFE A prenatal study for XLHED affected boys

XLHED is a very rare and debilitating congenital disease which affects approximately 4/100,000 live male births every year. This genetic disorder is a dermatologic-related condition which leads to abnormal development of the skin, sweat glands, sebaceous glands, hair, oral cavity and respiratory mucosal glands resulting in serious clinical manifestations such as hyperthermia, craniofacial anomalies and recurrent respiratory infections.

The EDELIFE clinical trial is a confirmatory study that will investigate the efficacy and safety of intra-amniotic ER004 administrations as a prenatal treatment for male foetuses who have been confirmed to have XLHED. ER004 is a pioneering 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 foetus. If successful, ER004 has the potentialto become the first approved 'single-course treatment', administered during the second and third trimesters of pregnancy.

"It is an exciting time for the Hypohidrotic Ectodermal Dysplasia community and for prenatal medical research. For the first time, we can hope to correct major symptoms of XLHED for those who are 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 may benefit from this unique treatment are aware of the EDELIFE trial."

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A target number of 15 to 20 baby boys with XLHED will be treated within the EDELIFE trial across 8 centres in Europe and the USA. Clinical centres for the study are now open in Germany, France, Italy, Spain, the United Kingdom and will be open shortly in the USA. A dedicated web site (www.EDELIFEclinicaltrial.com) is available for interested families who want to learn more about the clinical trial and the conditions for enrolment. Beyond the initial English version, it will progressively be developed in German, French, Italian and Spanish.

"We are committed to supporting pregnantwomen with a confirmed diagnosis of XLHED in their treatment journey for their unborn baby boys," said Dr Deborah Szafir, Executive Vice President, Head of Medical and Patient Consumer Division at Pierre Fabre. "15 to 20 patients in the clinical trial may seem like a very small number, but given how rare the condition is, it is essential we facilitate the process of enrolment into the study as much as possible. This includes facilitating the pregnant women's travel to a nearby country if there is no investigational site open in their own country. We feel very proud at Pierre Fabre to support those with rare dermatologic diseases as we have already successfully done in infantile hemangiomas".

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

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

Details also available on http://www.clinicaltrials.gov. Study NCT04980638

About XLHEDXLHED is a severegenetic 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. XLHED is caused by mutations in EDA, a gene that encodes an important developmental signalling 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.

About ER004ER004 is a pioneering 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 foetus. ER004 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 promising potential in humans where it restored 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.

About the EspeRare foundationEspeRare 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-centred 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 http://www.esperare.org

About Pierre FabrePierre Fabre is the 2nd largest dermo-cosmetics laboratory in the world, the 2nd largest private French pharmaceutical group and the market leader in France for products sold over the counter in pharmacies. Its portfolio includes several medical franchises and international brands including Pierre Fabre Oncology, Pierre Fabre Dermatology, Eau Thermale Avne, Klorane, Ducray, Ren Furterer, A-Derma, Naturactive, Pierre Fabre Oral Care.In 2021, Pierre Fabre generated 2.5 billion in revenues, 66% of which came from international sales.Established in the South-West of France since its creation, the Group manufacturs over 95% of its products in France and employs some 9,500 people worldwide. Its products are distributed in about 115 countries. Pierre Fabre is 86%-owned by the Pierre Fabre Foundation, a government-recognised public-interest foundation, and secondarily by its own employees through an international employee stock ownership plan.Further information about Pierre Fabre can be found at http://www.pierre-fabre.com, @PierreFabre.

References

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. Schneider H, Faschingbauer F, Schuepbach-Mallepell S, Krber 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

Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects. Krber 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

In utero correction of a genetic disorder. Stower H.Nature Medicine 2018; 24: 702

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CONTACTS :EspeRare Foundationfoundation@esperare.org

Pierre Fabreanne.kerveillant@pierre-fabre.com

(PRNewsfoto/Pierre Fabre; EspeRare Foundation)

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Pierre Fabre and the EspeRare Foundation administer investigational treatment to first patient in EDELIFE clinical trial for rare genetic disease,...