News

Miniaturization and precision at the service of life. 

The development of medical devices requires not only the knowledge of medical experts, but also engineers and innovative technologies. The journal Le Micromécanicien, in its December edition, published an article on NeoCare - an innovative medical device aimed at protecting the heart and lungs of newborns with heart defects.
 
A great opportunity for a medtech to finalize the development, production and commercialization of NeoCare for congenital heart defects and to extend this technology to many other indications for which the control and regulation of vessel pressure is necessary, for example liver transplantation or major liver resection. 

To read the full article go to pages 30-31 on the following link: https://lemicromecanicien.ch/

About Micromécanicien:

Le Micromécanicien is a specialized, technical and industrial magazine dedicated to microtechnology. Microtechnology applies to a field that permeates practically the entire industrial sector, particularly in French-speaking Switzerland, with a strong presence in the Jura Arc.

As advocacy leaders, Genetic Alliance, EspeRare and Luna are joining forces to support the active participation of advocacy community in therapeutic development. To this end, over the next 4 months, Genetic Alliance will moderate a Webinar Series about the drug development process. The first two webinars (29^th Nov & 14^th Dec) will focus on presenting the NETS, a dynamic, interactive map that intends to provide a realistic view of drug development, and its associated resources helpful for understanding and executing that process. On January 18^th, EspeRare will present how shelved drugs can accelerate the development of life-changing therapies and lay out the practical examples based on its programmes. During this webinar, a call for proposal will be launched and EspeRare will commit its expertise and support to an advocacy organization to co-develop a new therapeutic program addressing high unmet medical needs in rare diseases.  Finally, Luna will run two final webinars demonstrate major features of its Community Driven Innovation methodology (15^th Feb) and its innovative registry and studies platform (1^st Mar).

For more information on the series of webinars and registration please visit the link.

EspeRare, their partner Pierre Fabre Group and the UK patient association will be presenting at the Drug Repurposing for Rare Diseases Conference in London on October 10^th 2022 on how they are joining forces to reposition and develop a landmark treatment in XLHED.

EspeRare will also present its pioneering new collaborative model centered on patients and integrating the ethical commitment in terms of the accessibility to treatments for rare disease community.

This annual conference, live and in-person since 2020 highlights the role that drug repurposing can play in lowering the cost and accelerating the development of rare disease treatments.

For more information on the DrugRepo 2022, please follow the link. 

The first fetal patient recruited in the EDELIFE clinical trial has received three injections of the ER-004 treatment as planned. This experimental treatment (not approved for commercial use yet) is administered through the mother’s abdomen into the amniotic fluid around the baby.

ER-004 has been developed to replace the function of ectodysplasin-A1 (EDA1), a protein essential for the normal development of ectodermal structures in the fetus and missing in patients with XLHED. During this pivotal trial, approximately 15 to 20 unborn baby boys will be treated across 8 investigational centers in Europe and the US to assess the safety and efficacy of the experimental medicine.

The EspeRare Foundation and the Pierre Fabre group are co-sponsoring the clinical trial and if successful, ER-004 would be the first prenatal treatment for XLHED-affected boys.

To view the press release please follow the link  

EspeRare is thrilled to welcome Erin Gainer, former CEO of HRA Pharma and founder of the Ella Fund as a newly appointed Board Member. She joins our already existing dynamic group of board members, and we are excited about the complementarity and synergism in organizational stewardship she will add.

Erin Gainer brings with her decades of pharmaceutical industry and not-for-profit experience spanning from drug developer, chief executive, board member, and philanthropist roles. She initially joined HRA Pharma to lead its global R&D program focused on innovative products that respond to unmet medical needs in the fields of woman’s health and rare diseases. She then took the helm of CEO role at HRA Pharma for 7 years before joining the Board as Chairwoman from 2016 to 2020. In 2017, she joined the Board of Biom’Up as independent director in the context of the company’s IPO on Euronext, and in 2020 she joined the Board of Asarina Pharma, a Swedish listed biotech focused on neurology. Her interest in philanthropy started over twenty years ago with the seeds of interest sown during her time as a Peace Corps volunteer and which continued flourishing with the creation in 2017 of the Ella fund, a venture philanthropy fund devoted to backing social entrepreneurs working to empower women throughout the world through education, health and entrepreneurship. As graduate from Rice University and John Hopkins School of Public Health, Erin has a PhD in epidemiology from Paris-Sud University and an MBA from INSEAD.

“Erin joins EspeRare at a crucial time in the growth of the organization and the advancement of our pipeline of innovative therapeutic projects. We are honored to be able to benefit from her experience as a global leader and strategist to support growing EspeRare’s impact in rare diseases and in the prenatal therapeutic space” commented Caroline Kant, Executive Director. 

As a Board Member, Erin will provide her expertise in R&D, fundraising and business development to support the growth of EspeRare’s therapeutic pipeline, patient engagement, and innovative health management approaches.

Sharon Terry, EspeRare’s President and CEO of Genetic Alliance and Ryan Taft, PhD, Vice President, Scientific Research at Illumina, Inc. announced the creation of the iHope™ Genetic Health program aiming at providing whole-genome sequencing access (WGS) to tens of thousands of patients across the globe. This flagship program will enable clinical laboratories and care centers throughout the world to test patients impacted by rare disease and other genetic health conditions.

"Since our inception in 1986, Genetic Alliance's mission has been to realize a world in which those affected by genetic disease are diagnosed and offered interventions to alleviate their suffering," said Sharon.

“We have a moral imperative to help genetic disease patients who need a diagnosis,” said Ryan Taft. “iHope Genetic Health will change the trajectory of genomic medicine worldwide, helping patients who may have otherwise been invisible”. 

To view the press release, follow the link.

About Illumina and Genetic Alliance

Illumina is improving human health by unlocking the power of the genome. Their focus on innovation has established Illumina as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical and applied markets. To learn more, visit www.illumina.com

Genetic Alliance, a non-profit organization founded in 1986, is a leader in deploying high tech and high touch programs for individuals, families, and communities to transform health systems by being responsive to the real needs of people in their quest for health. For more information, visit geneticalliance.org

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