News

The National Academies of Science, Engineering, and Medicine (USA) appointed Sharon Terry, EspeRare’s President and CEO of Genetic Alliance, to lead the Board on Health Sciences Policy. In her new role, Sharon will share her vast experience and guidance on promoting health education and strenghtening research and biomedical sciences at large. 

Her expert advice on some of the most pressing challenges such as increasing public awareness on ethical, legal, and policy-related issues in genetics will add incremental value to the overall work of the Health and Medicine Division at the National Academies of Science, Engineering, and Medicine and healthcare system as such.

As a SHG 2021 Advocacy Award winner, she is the well-chosen nominee to face the goals laid in front of the Board.

For more information about the Board on Health Sciences Policy follow this link.

EspeRare has entered into a partnership with the Pierre Fabre group to develop ER004, a novel in utero protein replacement therapy for the treatment of X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED), a rare pediatric genetic disease.

There is currently no approved therapy for the treatment of XLHED and ER004 has the potential to become the first ever prenatally administered drug to correct a genetic disease before birth. During the second half of 2021 and in view of discussions with the EU and US regulatory agencies, both partners aim to start enrolling patients into a clinical trial geared towards marketing approval.

With Pierre Fabre, EspeRare is fortunate to have found a partner that shares common values and patient-centered commitments.

Under the terms of the agreement, EspeRare and Pierre Fabre will become co-sponsors of the development of ER004 in Europe and in the US. Pierre Fabre will be responsible for its commercialization worldwide. In exchange for exclusive commercial rights, EspeRare is receiving financial returns. Delivering on EspeRare non-profit model, these financial returns are on one hand, shared with past contributors of ER004 development and on the other hand, reinvested into scaling EspeRare’s organization and portfolio of therapeutic programs.

Eric Ducournau, CEO of the Pierre Fabre Group commented: « We are proud to ally with the EspeRare foundation to find a therapeutic solution to a debilitating disease affecting 200 babies in Europe 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 »

Caroline Kant, Founder and CEO of EspeRare, stated: “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.”

Presses releases

Please find the full press release in English and in French.

About XLHED

XLHED is a severe, chronically debilitating and life-threatening rare disease affecting approximately 4/100,000 live male births every year. XLHED is caused by genetic mutations in the EDA gene, a gene that encodes for an important ectodermal developmental protein, EDA. The absence of functional EDA results in abnormal development of the skin, sweat glands, sebaceous glands, hair, oral cavity, and respiratory mucosal glands resulting in serious life-threatening clinical manifestations from birth including hyperthermia, craniofacial anomalies and recurrent respiratory infections that impair quality of life in patients and their families.
 

About ER004

ER004 is a fully humanized EDA molecule consisting of the human IgG1 Fc sequence linked to the human EDA TNF binding domain. Preclinically, ER004 has been shown to bind to the receptor EDAR resulting in activation of the NFϰB signaling pathway, which triggers the transcription of genes involved in the normal development of multiple tissue types. ER004 is the first and only treatment specifically targeting XLHED. Administered during the third trimester of pregnancy, it has the potential to become a “single course” treatment, significantly improving symptoms of the disease throughout patients’ lives. This approach has already demonstrated significant potential in a case series of three patients treated in utero with ER004 during the third trimester of pregnancy. The treatment normalized sweat gland function and associated thermoregulation, and improvement in dentition and respiratory function were observed. These results were recently published in the New England Journal of Medicine and featured in Nature Medicine’s 2018 Research Highlights.

About PIERRE FABRE

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  www.pierre-fabre.com

The U.S. FDA has granted Breakthrough Therapy Designation to investigational ER-004 protein replacement therapy for EspeRare’s treatment for the prenatal treatment of XLHED.

The video: a Perle Productions

The Breakthrough Therapy Designation was granted following the promising results from three XLHED subjects who were treated by Professor Holm Schneider with a course of ER-004 intra-amniotic injections during the third trimester of pregnancy. These results, demonstrating that this prenatal treatment has a profound and life-changing effect on these infants, were published in the New England Journal of Medicine.

The FDA Breakthrough Therapy Designation intends to expedite the development and review of drugs for serious or life-threatening conditions. To be granted, it requires preliminary clinical evidence demonstrating that the drug may result in substantial improvement on at least one clinically-significant endpoint compared to available therapy. This Designation allows a program to benefit from all of the FDA's fast-track program features, including proactive FDA guidance on an optimal drug development plan, organizational commitment involving FDA senior managers, and eligibility for rolling and priority reviews.

TO VIEW THE FULL PRESS RELEASE follow this link

RELATED NEWS FROM the National Foundation for Ectodermal Dysplasias follow this link

At EspeRare, we are 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.  As a not-for-profit organization, we achieve this through a collaborative approach centred on patient engagement with the aim of giving children and their families fair access to these therapies and a new hope for the future. 

In line with EspeRare mission to work closely with the patients community, we will present at this patients family conference,  the latest update on our most advance programme and our plan to conduct an in utero clinical development for the treatment of  a rare form of ectodermal dysplasia (XLHED).  This treatment has not only the capacity to correct the most debilitating symptoms of XLHED, but also setting a novel regulatory path for treating genetic diseases before birth.

EspeRare presented its results of Rimeporide's phase Ib study in Duchenne muscular dystrophy patients at the 15^th ICNMD conference in Vienna

About Rimeporide: An experimental treatment in clinical development for the treatment of a broad rang of patients with Duchenne muscular dystrophy (DMD). The EspeRare foundation has obtained the orphan drug status by the European Medicines Agency and the US Food and Drug Administration for Rimeporide in DMD.

About ICNMD: This international congress is organized on behalf of the Applied Research Group on Neuromuscular Diseases of the World Federation of Neurology. Since 2014, the Congress has taken place in two-year cycles. This was the 15th International Congress, the aim of the Congress is to present a wide spectrum of neuromuscular diseases from the perspectives of advances in research, diagnosis and treatment.

EspeRare is now a member of EURORDIS, a federation of patient organisations and people active in rare diseases, which works to improve the quality of life of rare disease patients.

EURORDIS brings together over 700 patient organisations from over 60 countries representing 30 million patients with 4000 distinct rare diseases.

By becoming a member of EURORDIS, EspeRare reaffirms its commitment to placing rare disease patients at the centre of its efforts: we aim to provide patients with the best possible therapies and treatment conditions, hand in hand with our partners and with public stakeholders.

The ella fund will support the development of EspoiR-005 (ER-005) in cancers affecting children.
This initial endowment will fund a series of proof-of-concept screening studies to better characterize ER-005 effects in childhood cancers. To this end EspeRare is collaborating with the Centre Léon Bérard in Lyon, France, a cancer referral and treatment centre and research institute specialised in rare tumours, comprising a paediatric hemato-oncology unit.

Our new therapeutic candidate is a first-in-class candidate for the treatment of rare paediatric cancers. EspeRare obtained the rights to that molecule from a pharmaceutical partner and gained access to the results of previous studies on that compound, including safety and efficacy in humans.

Vast progress has been done in cancer treatments over the last years, however cancers affecting children have not received the same attention from the industry. In view of the severe unmet needs for these underserved young patients, should this initial research phase supported by the ella fund produce promising results, EspeRare intends to rapidly progress the development of this therapy into patients.

About The ella fund

The ella fund is a philanthropy fund sheltered by the Swiss Philanthropy Foundation that seeks to empower girls and women through education, healthcare and entrepreneurship. With this goal in mind they have recognised EspeRare as a promising venture philanthropic drug development organisation led by women.

The Fondation Pictet financially supports EspeRare’s new programme in a disabling and rare skin disease called X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED). EspeRare is honoured that such a prestigious foundation acknowledges this new project, designed to cure the most threatening symptoms of this disease.

XLHED is a serious rare disease that is life-threatening, particularly in the first years of life. Infants affected by this genetic disorder cannot sweat and are at risk of sudden death due to hyperthermia and severe respiratory issues. See here for more information on the disease.

This new programme, called EspoiR-004 (ER-004) is the first and only therapy for this disease. It is also one of the first treatments designed to be delivered in-utero, paving the way for other such treatments.