Advancing treatments for rare diseases together

News

29Feb

Today is a very special day, Rare Disease Day! A day that gives us the opportunity to shine a spotlight on patients and families living with rare conditions. It is also a special moment in time to raise awareness about research study conducted for boys with XLHED, a rare genetic disease that can affect the sweat glands, respiration, skin, hair, teeth, and may significantly impacts quality of life. A clinical trial, Edelife is underway to evaluate a potential treatment for the most common form of ectodermal dysplasia (XLHED).

Pregnant women in any country who are XLHED carriers and pregnant with a boy may be able to join.

Recruitment is ongoing !

https://edelifeclinicaltrial.com/

22Feb

On February 20, 2024, the EspeRare Foundation and Pierre Fabre Laboratories received a prestigious EURORDIS Company Award for Patient Engagement. It was an extraordinary evening marking a significant milestone in our journey and an enriching collaboration with patient groups.

We feel immensely honored to be recognized for the remarkable efforts we make with and for those living with a rare disease. It truly exemplifies the spirit of collaboration and perseverance that defines the rare disease community. Working hand-in-hand with the Ectodermal Dysplasias representatives we learned how to better communicate with the families, understand their needs, preferences and challenges. We were able to echo the patient voice into our clinical study making it truly patient-centric, inclusive, trustworthy and accessible to families that consider participating. We are hopeful that our groundbreaking prenatal treatment aiming to correct symptoms of X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED), a rare genetic disease, will truly address their needs and become accessible to patients.

This remarkable evening, filled with emotions and amazing people, reinforces our hope and inspiration to continue to strive for excellence, innovation and pushing the boundaries of responsible drug development for the rare disease community.

The awards ceremony serves to acknowledge the dedication and innovation demonstrated by individuals and organizations committed to advancing the cause of rare diseases. From patient advocates to policymakers, scientists to companies, the event shines a spotlight on those who tirelessly work towards improving the lives of those affected by rare diseases.

To find out more on the Black Pearl Award please follow the link: Black Pearl Awards Homepage - EURORDIS

30Jan

Pierre Fabre Laboratories and the EspeRare Foundation will receive the “EURORDIS Company Award for Patient Engagement 2024”. The award ceremony, a part of the EURORDIS Black Pearl Awards scheduled for February 20th2024 will take place in Brussels (Belgium), recognizing the exemplary efforts and long-standing collaboration they have established with the Patient groups in X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED).

EspeRare and Pierre Fabre, combined their complementary expertise in 2020 to jointly develop a groundbreaking prenatal therapy for XLHED patients, with the hope of delivering the first treatment to address this genetic condition before birth. Their shared commitment, values, and principles not only drive the development of this pioneering treatment but also empower the rare disease community to actively participate and contribute their insights at every stage of the drug development process. EspeRare and Pierre Fabre are genuinely honored and grateful to receive acknowledgement for their collaborative, patient-centric approach.

The inauguration day is even more remarkable as it takes place on the Ectodermal Dysplasias Awareness Day, a day that puts orphan disease community together to advocate about these rare conditions and the work being done. This makes Pierre Fabre and EspeRare extremely privileged to have a meaningful involvement with the patient community and collaboratively develop this potentially life-changing therapy being currently tested in the EDELIFE clinical trial.

For more information on the Eurordis Black Pearl Award please follow the link: Black Pearl Awards - Awardees - EURORDIS

08Nov

November 13, 2023, EspeRare is participating in an illuminating fireside chat, hosted by >>venture>>, focusing on the significant role of nonprofits and impact entrepreneurship ventures in driving innovation. The event will feature an enriching discussion between Caroline Kant, the esteemed founder of EspeRare, and Lea Firmin, CEO of >>venture>>.

Be part of this insightful conversation and reserve your free ticket at: Innovation in Nonprofits & Social Entrepreneurship Tickets, Mon, Nov 13, 2023 at 1:45 PM | Eventbrite

12Oct

EspeRare, a pioneer in prenatal treatment advancements, announces that its co-founder and executive director, Caroline Kant, will be featured as a keynote speaker at the Geneva University Hospitals (HUG) Innovation Day on October 19, 2023.

The spotlight of Caroline’s keynote will be "EspeRare: a collaborative model at the forefront of prenatal treatment." Attendees will be given an insightful glimpse into the groundbreaking work EspeRare is undertaking, particularly surrounding ER-004 in X-Linked ectodermal dysplasia. This program, rescued and championed by EspeRare, is poised to become the first-ever treatment that addresses a genetic disease before birth, setting a groundbreaking precedent in medical innovation and offering hope for countless genetic conditions with debilitating perinatal symptoms.

About HUG Innovation Day

The HUG Innovation Day, now in its 17th year, is a platform that showcases innovative health projects. As an established event, it gathers innovators, allowing them to network, exchange experiences, and present transformative ideas within the healthcare sphere. Awards, including the Innovation Award, a Jury’s Favorite, and audience-driven prize, will highlight the day’s presentations. A startup award will also aim to support the ambitions of emerging healthcare entrepreneurs.

For those interested in attending or learning more about the HUG Innovation Day 2023, additional details can be found at: https://www.hug.ch/centre-linnovation/journee-linnovation-2023.

For more about EspeRare and ER004 in XLHED, visit ER-004 Programme in X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) | EspeRare Foundation

11Oct

We are delighted to announce the release of our 10th Anniversary Highlights Video, which encapsulates the essence of our remarkable journey over the past decade, as well as our ambitious vision for the future. As we take this opportunity to reflect on our journey, we acknowledge the significant contributions of our public and philanthropic donors, scientific community, and the unwavering support of our valued rare disease ecosystem. We are confident that through continued collaboration, we can achieve even greater progress in paving the path towards a more equitable future.

Click on the photo to view the video and be part of the celebration:

EspeRare's 10th Anniversary Highlights

22Jun

On Thursday, June 8th 2023 EspeRare had an immense pleasure of celebrating its 10th anniversary at Campus Biotech in Geneva, CH. It was an extraordinary evening, made even more special by the presence of Foundation’s dedicated and supportive guests. Their energy and enthusiasm truly illuminated the occasion!

The official ceremony featured the heartfelt patient stories and uplifting speeches given by esteemed medical figures, all centered around the principles of embracing research, patient-centricity and collaboration.  The festivities finished with the cocktail dinner reception in the entourage of the immersive photography exhibition, Days of Rare, created by Ceridwen Hughes and SbD Creative.

It was a truly remarkable evening filled with emotions, hope and inspiration to continue striving for excellence, innovation and pushing the boundaries of responsible drug development for the rare disease community.

The next chapter has begun, and EspeRare will continue to make a lasting impact and create a brighter future for rare disease patients worldwide.

Merci

23Feb

EspeRare and its partner Pierre Fabre Group will participate in the Rare Disease Day at NIH on 28th February 2023, presenting their ground-breaking clinical study for families with XLHED. The virtual booth will give the possibility to attendees from various parts of the world to connect and find out more about the new treatment paradigm and engage with the speakers.

National Institutes of Health (NIH), through this event aims to raise awareness about rare diseases, the people they affect, and NIH collaborations that address scientific challenges and advance research for new treatments. The event is free and open to the public. Registration is required prior to attending: https://hopin.com/events/nih-rare-disease-day-2023/registration

 

02Feb

When French pharma company, Laboratoires Pierre Fabre and Swiss not-for-profit organization, EspeRare, joined forces by the end of 2020, their goal was to develop a life-changing treatment for a debilitating rare disease, X-Linked Hypohidrotic Ectodermal Dysplasia, which affects approximately 1 in 25,000 live male births every year.

“Currently, there are no therapeutic options for XLHED. Only the symptoms of the disease can be alleviated” – as Caroline Kant, CEO and co-founder of EspeRare and Caroline Miklaszewski, Project Director at Pierre Fabre, jointly stated.

There is no doubt that the drug development in rare diseases is highly challenging but when two patient-centric organizations combine complementary expertise, the ground-breaking research and a novel therapeutic approach can see a daylight. ER-004, a pioneering in-utero protein replacement therapy, is currently being investigated in the EDELIFE clinical trial and  if approved, it will become the first therapy to address a genetic condition before birth.

To read the full article, please follow the link: Discovery & Development (themedicinemaker.com)

10Jan

In the context of therapy development webinar series launched in November 2022 by Advocacy Leaders: Genetic Alliance, EspeRare Foundation and Luna, EspeRare will take a lead at the third webinar taking place on 18th January 2023. The Foundation will present how shelved drugs can accelerate the development of life-changing therapies and lay out the practical examples based on its programmes in X-linked Hypohidrotic Ectodermal Dysplasia and Duchenne. During this webinar, a call for proposals will be launched and EspeRare will encourage its audience to engage and potentially co-develop through a partnership a new therapeutic opportunity for its community addressing high unmet medical needs in rare diseases. Finally, Luna will run two final webinars to demonstrate major features of its Community Driven Innovation methodology (15th Feb) and its innovative registry and studies platform (1st Mar).

Here is the link for the survey mentioned: Therapy Development - Call for Proposals. Deadline for submissions is February 1st 2023.

Webinars are open to public. For more information on the series of webinars and registration please visit the link.

03Jan

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.

14Dec

EspeRare is delighted to announce the appointment of Bertrand Kiefer, PhD in medicine and bioethics as a new member of the Foundation Board. This distinguished member of the Geneva and Swiss scientific community brings a wealth of expertise in medicine, bioethics, theology and journalism, all of which will be of considerable value to the governance of EspeRare.

“Bertrand Kiefer affords us the privilege of joining the Foundation on the eve of its tenth anniversary. His unique experience and fierce commitment to the medical and ethical fields is an invaluable asset in guiding EspeRare through the next stage of its development” commented Caroline Kant, co-founder, and executive director.

After receiving his medical degree in infectious diseases from the University of Geneva, Dr. Kiefer studied theology and philosophy of science at the University of Fribourg and then in Rome, before engaging in bioethics research. He is also a trained journalist and is the author of over 600 articles, columns and editorials. He is also editor-in-chief of the Swiss Medical Journal.

In addition to being a member of the board of various not- for -profit associations and committees in Switzerland, Bertrand Kiefer was a member of the Swiss National Commission for Ethics in the Human Domain for 12 years.

Today, it is a great privilege to welcome Bertrand Kiefer to the Board of Foundation EspeRare. There is no doubt that his contribution, along with the contribution of the other dedicated members of the Foundation Board, will be instrumental to the success of the Foundation in the years to come.

28Nov

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 (29th Nov & 14th 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 18th, 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 (15th Feb) and its innovative registry and studies platform (1st Mar).

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

05Oct

EspeRare’s co-founder and Executive Director, Caroline Kant, was honoured to share her story within the framework of rare diseases which was feathered in the 3rd edition of Rarity Life. Starting with the pharma experience, she then moves on to describing the opportunity for establishing a new collaborative business model focused on patient inclusion and the accessibility to treatments.

To read the full article go to page 46 on the following link https://issuu.com/raritylife/docs/rarity_life_3

Rarity Life is a brand new online publication that offers those affected by rare diseases, disability and cancer the opportunity to create content that is truly inclusive. Apart from art, culture and fashion, the magazine includes life stories and inspirational people doing remarkable work within their community. 

To subscribe to Rarity Life go to: www.samebutdifferentcic.org.uk/raritylife

26Sep

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 10th 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

12Jul

Connect in Pharma, the organisers of an inauguring event for the European pharma and biotech community pledges to raise 20k Swiss Francs to be donated to EspeRare Foundation for the development of new therapeutic solutions in rare diseases. The event that is designed to address the most critical issues and challenges of the industry in a pivotal time for the packaging market is taking place at Palexpo, Geneva, CH on 14-15 September 2022.

EspeRare Foundation is honored to partner with Ceridwen Hughes, photographer and director of SbD Creative who will launch for the first time her new exhibition, “Days of Rare”, during the event at Geneva. Through the lens of Ceridwen each visitor can experience a glimpse of the challenging and inspiring environment of rare disease.

You can join us on 14 or 15 September 2022 at Palexpo in Geneva, CH and help us raise funds and awareness for rare disease community, still underserved to this day. Click here to register to attend: https://registration.gesevent.com/survey/0e666gz1jz314?actioncode=2596

To view the press release please follow the link.

05Jul

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.

A Prenatal Study for XLHED Affected Boys

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  

03Jun

EspeRare and Pierre Fabre present their pioneering prenatal treatment, ER004 in XLHED, the EDELIFE clinical trial, at the 8th International Conference on Ectodermal Dysplasias (ICED) in Paris, 9-11 June 2022. Professor Holm Schneider from the University of Erlangen, Germany, coordinating investigator of the EDELIFE trial, will discuss future perspectives in ED, keeping a patient focus. 

The conference gathers medical professionals, research scientists, representatives of patient organisations and business actors with a goal to share knowledge and experience around this rare disease.

For more information on the ICED 2022, please visit: Home ICED 2022.

04Apr

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.

28Feb

Marc André Deschoux, the creator of TheWATCHES.tv, well known to put on the spotlight everything that has to do with high end watchmaking, has decided to feature EspeRare’s NeoCare medical device project. In his own words he was inspired to showcase that “watchmaking can indeed save lives”. For more you can watch the video here -> When Watchmaking Saves Lives! - YouTube

About NeoCare:

NeoCare is a miniature, implantable and battery free medical device designed to protect the heart of newborns and children with severe congenital heart defects by banding the pulmonary artery. The technology which uses a Swiss watch-making precision, comprises an implant coupled with an external control unit. The latter allows after implantation to remotely control and regulate the blood flow without having to open the chest. It results in shorter stays in intensive care and no-need for re-operations to adjust the banding and the flow in the pulmonary artery. 

About WATCHESTV:

Created by Marc André Deschoux, the main idea behind TheWATCHES.tv is to share what watchmaking is all about in a fun and informative way using video as the primary media. It is a YouTube Channel with a follower of more then 150'000 subscribers, with an average of 500'000 video views per month.

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