Advancing treatments for rare diseases Together



The foundation's CEO will serve as a core member of a strategic effort to advance progress in the field of Data Mining and Repurposing. The purpose of this Task Force is to gather global experts and identify opportunities for collaborations to speed up the exploitation of these new discovery tools.
The International Rare Diseases Research Consortium teams up researchers and organisations investing in rare diseases research in order to achieve two main objectives by the year 2020, namely to deliver 200 new therapies for rare diseases and means to diagnose most rare diseases.
The Executive Committee of IRDiRC selected several topics for action which could be instrumental in accelerating R&D, among which, data mining and repurposing. As a key player in this field, EspeRare’s CEO, Caroline Kant has been invited to contribute to this “Data mining and repositioning Task Force”.

About IRDiRC
The International Rare Diseases Research Consortium (IRDiRC) was initiated by the European Commission and the US National Institutes for Health Research and launched in April 2011 to foster international collaboration in the rare diseases field. IRDiRC will team up researchers and organizations investing in rare diseases research in order to achieve two main objectives, namely to deliver 200 new therapies for rare diseases and means to diagnose most rare diseases by the year 2020.

For more click on the following link


Geneva, Switzerland, May 4th 2015 – The European Medicines Agency (EMA) has granted an Orphan Drug Designation (ODD) for rimeporide, its lead compound for the treatment of Duchenne muscular dystrophy (DMD). DMD is a rare, life-threatening disease affecting boys early in childhood that causes muscle weakness and muscle loss. It is the most common and serious form of paediatric muscular dystrophies.

Rimeporide is a selective sodium/proton exchanger type-1 inhibitor, originally developed by Merck Serono in the intended indication of congestive heart failure. In clinical studies to date, rimeporide was shown to have a clinically acceptable safety profile in adults. Rights to rimeporide were transferred to EspeRare in 2013. Since then, EspeRare successfully conducted two non-clinical studies at the Children Medical Centre in Washington (USA) and the University of Geneva (Switzerland). The results were presented at the ICNMD XIII Congress on Neuromuscular Diseases in Nice (France) last year. “Rimeporide’s potential to address skeletal muscle inflammation, fibrosis and cardiomyopathy in a broad population of patients, regardless of their mutational status, could make it an ideal complement to treatments designed to augment or replace dystrophin. Obtaining this ODD is an important milestone for rimeporide and supports its clinical development” commented Florence Porte-Thomé, EspeRare’s R&D Director. The decision, which was made consequent to a positive recommendation from EMA's Committee for Orphan Medicinal Products, represents the first time a sodium/proton exchanger inhibitor has received orphan status for DMD in Europe, positioning this mode of action as an innovative therapeutic approach for DMD.

Leveraging on robust safety and nonclinical efficacy evidence to support clinical development, EspeRare will launch the first clinical study in boys with DMD during the second half of 2015 to investigate the safety, tolerability, pharmacokinetics and pharmacodynamics of this drug candidate in these patients. “The nonclinical package indicates rimeporide’s potential to transform Duchenne muscular dystrophy from a life-threatening to a chronic disease” explains Professor Denis Duboc, Cardiologist at the Hospital Cochin in Paris.

Obtaining this orphan drug designation for rimeporide is a demonstration that dormant therapeutic assets can show potential to treat patients affected by orphan diseases. This success encourages EspeRare to further build on its model by expanding its partnerships with biopharmaceutical companies and working towards building a robust portfolio of programs for patients affected by these underserved diseases.
About Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy (DMD) is a rare genetic paediatric disease that affects approximately 1 in 3,500 male babies worldwide. It is a rapidly progressive form of muscular dystrophy caused by a mutation in a gene which encodes the dystrophin protein. Its absence causes progressive skeletal muscle degeneration leading to a loss of ambulation around the age of 10. Then progressive respiratory muscle weakness and cardiac failure both represent major life-threatening complications. Today there is no cure for DMD.
About Orphan Drug Designation (ODD)
EMA's Orphan Medicinal Product Designation is designed to promote the development of drugs that may provide significant benefit to patients suffering from rare, life-threatening diseases. In addition to granting 10 years of market exclusivity, the designation also provides special incentives for sponsors including eligibility for protocol assistance, possible exemptions or reductions in certain regulatory fees during development or at the time of application for marketing approval.
 For more information, please visit the EMA website

Press relations: Gwen Laporte-


The annual report highlights the foundation's achievements and the financial statements.

Please click here to read our new annual report.


We are very proud to announce this new opportunity for EspeRare. The pharmaceutical company Boehringer Ingelheim has invited the foundation to join its programm "Making more Health". In this context EspeRare explores the possibility to create a business partnership with this big pharmaceutical company and to benefit from the pro-bono support of experts within the company to foster the foundation future development. This is the recognition for EspeRare of its pioneering model and a true encouragement to continue its commitments and growth.

About Boehringer Ingelheim
Boehringer Ingelheim is a german family-owned company created in 1885. It belongs to the  world’s 20 leading pharmaceutical companies. They develop new medications of high therapeutic value for human and veterinary medicine,  from development phase to marketing.
Involvment in social projects is part of Boheringer Ingelheim corporate culture, like the initiative “Making more Health” in partnership with Ashoka, an organization which identifies and support social entrepreneurs with innovative changing solutions for the world’s most urgent social problems.

About Making More Health
Boehringer Ingelheim’s initiative “Making More Health” aims to select and support most promising solutions to challenging health problems with the help of Ashoka's know-how. The pharmaceutical group brings its professional expertise in the healthcare and business sector, its experience and its management skills. The group also developed a system to foster employees commitment in these social actions.
The three axes of "Making more Health" action are the regular selection of "Fellows, a programme for young people engagement to develop new solutions in health care and a programme with company employees active on-site support.
All these concrete actions aim to bring individuals and communities innovative solutions to undeserved health problems.

To learn more about this, see following links:


Less than 2 years after its launch, EspeRare has made the cut in the top 8 Swiss start-ups. Bilan magazine presents in its February edition the 2015 selection of 50 Swiss start-ups in which one should invest. The selection gives an overview of promising start-ups from all industries. EspeRare has received special recommendations from members of the jury.

For more see link


"Social entrepreneurship…which business model to change the world?"
In this article from the economical journal Bilan, Aurore Bui selects six social entrepreneurs with innovative business models, including Caroline Kant for EspeRare.
Please click here to read the article.


EspeRare is exploring the therapeutic potential of cilengitide in Focal Segmental Glomerulosclerosis with the University of Bristol, UK. Cilengitide is an investigational compound developed by Merck Serono, the biopharmaceutical division of Merck.

Focal Segmental Glomerulosclerosis (FSGS) is a rare disease that causes impair renal function due to scaring of glomeruli (structures within the kidneys composed of capillary blood vessels actively involved in filtering harmful substances out of the blood). The underlying disease mechanism involves the alteration of cells called podocytes within those glomeruli. Published scientific data suggests that the inhibition of αvβ3 integrin could potentially modulate the pathologic processes characterized by inappropriate motility of podocytes in this rare renal disease.

EspeRare has initiated a collaboration with Professor Moin Saleem at University of Bristol to test the ability of cilengitide, a αvβ3 integrin inhibitor, to activate the motility of podocytes in several FSGS experimental models. If demonstrated, such effect could potentially translate into a reduced or halted decline of renal function and progression to end stage kidney disease in humans. In that context, cilengitide represents an attractive investigational candidate for a potential future therapy for FSGS patients.

This first assessment of the therapeutic potential of cilengitide in non clinical models of Focal Segmental Glomerulosclerosis is set to be completed by the end of 2014, and is co-funded by Merck Serono.

About Cilengitide
Cilengitide is an investigational compound developed by Merck Serono. The small molecule is a potential first in a class of αvβ3 integrin inhibitor that was in clinical development in oncology until Phase III. The development of this drug candidate was halted in 2013.
Merck Serono has also previously provided support to EspeRare in the development of another of its investigational products, Rimeporide, in the deadly pediatric disease Duchenne Muscular Dystrophy, through initial fund donation, and transfer of compound rights to EspeRare. This joint project is still ongoing.

About Focal Segmental Glomerulosclerosis (FSGS)
FSGS is a rare form of a nephrotic syndrome that affects both children and adults with peaks at 6-8 and 20-30 years of age, respectively. The life expectancy of a 10 year-old child on hemodialysis due to end stage kidney disease is dramatically reduced.
The cause of FSGS is unknown. The disease effects a specific part of the kidney called glomeruli. The role of the glomeruli is to filter soluble waste such as by-products of cellular metabolism from the blood, the first step to form urine. When barriers in this filter are damaged, proteins begin to leak into the urine and over time cause kidney failure. The diagnosis of FSGS is based on the presence of proteinuria, possibly signs and symptoms secondary to proteinuria (oedema), and histologic examination of kidney biopsy.The disease burden is tremendous to patients with this lifelong chronic disease; particularly it requires management of dialysis and in some cases transplantation. Currently, there is unfortunately no cure for this debilitating disease.

About Professor Moin Saleem, University of Bristol
Professor Moin Saleem, Professor of Paediatric Renal Medicine, at University of Bristol, School of Clinical Sciences, is a world renowned expert in glomerular diseases and particularly the nephrotic syndromes. He is a pioneer in the field of podocyte biology and originated the gold standard of a conditionally immortalised human podocyte cell line, now in use worldwide in academia and industry. In 2007 he was awarded a Medical Research Council grant to set up the UK renal rare disease registry (, which has grown into a national strategy adopted by the UK Renal Association.


"These pioneers who are changing the world" is the title of this special issue dedicated to sustainable economy.
This folder dedicated to innovation, provides an overview of entrepreneurs at the heart of social innovation and portrays Caroline Kant, co -founder and executive director of EspeRare. 'Hardships in life' can trigger social engagement, the article describes the journey of a woman who decided herself to the advancing treatments for rare diseases.

See-Express Reussir n#27 –September-October 2014 p42-43


EspeRare’s president & executive director are authors of the chapter on the role of Disease Advocacy Organizations in orphan drug development within the book entitled Orphan Drugs and Rare Diseases newly published by the Royal Society of Chemistry. Click here to view chapter abstract

The book is an up-to-date monograph written by a combination of academic and industry experts working in the field of orphan diseases drug development, this text brings together expert authors in the regulatory, drug development, genetics, biochemistry, patient advocacy group, medicinal chemistry and commercial domains to create a unique and timely reference for all biomedical researchers interested in finding out more about orphan drugs and the rare diseases they treat.

To view book content click here

Royal Society of Chemistry


EspeRare presented the “Development of Rimeporide, a selective sodium-hydrogen exchanger inhibitor, for Patient with Duchenne Muscular Dystrophy”  at the 13th International Congress on Neuromuscular Diseases in Nice from the 5-10th of July 2014.

Development of Rimeporide, a selective sodium-hydrogen exchanger inhibitor (NHE-1), for Patient for Duchenne Muscular Dystrophy
Click on picture to view

For more information on the ICNMD congress click here



EspeRare & Merck Serono are one of the 3 prize winners of the “Social & Business Co-Creation: collaboration for impact” competition.

The prize was awarded for its project “Advancing treatment for Duchenne” at the 5th Zermatt Summit “The Courage to Dare” on June 27th. The jury was constituted by Ashoka, the Zermatt Summit Foundation, Fondation Guilé, DPD and Boehringer Ingelheim, they reviewed 338 projects, selected 15 finalists and named 3 winning Social & Business Co-Creation projects.

Please follow this link to see all winners

About Merck Serono
Merck Serono is the biopharmaceutical division of Merck. With headquarters in Darmstadt, Germany, Merck Serono offers leading brands in 150 countries to help patients with cancer, multiple sclerosis, infertility, endocrine and metabolic disorders as well as cardiovascular diseases. In the United States and Canada, EMD Serono operates as a separately incorporated subsidiary of Merck Serono.
Merck Serono discovers, develops, manufactures and markets prescription medicines of both chemical and biological origin in specialist indications. We have an enduring commitment to deliver novel therapies in our core focus areas of neurology, oncology, immuno-oncology and immunology.

About the “Social & Business Co-Creation: collaboration for impact” competition:
The competition Social & Business Co-Creation: collaboration for impact, has been developed by Ashoka, the Zermatt Summit Foundation, Fondation Guilé, DPD and Boehringer Ingelheim to recognize innovative Co-Creation projects in Europe led by social-mission organisations, traditional businesses and public institutions.

The 3 winners receives coaching and a first prize of € 20,000, two runner-up prizes of € 10,000. Two early entry prizes of €1,000, a last mile and a special jury prize are also awarded.

About the Zermatt Summit
Created in 2010 as a primary international platform, the Zermatt Summit promotes a constructive, action oriented dialogue between key stakeholders from different universes who share the same purpose. Its role is to inspire, connect and empower high profile entrepreneurs, economists, political and spiritual leaders and NGO representatives who strive to be catalysts of a more inclusive and human globalization. Through a uniquely designed program, the Zermatt Summit team takes participants on an intense three-day journey to share a vision for a better society, develop models for a more human and sustainable world and change their hearts and minds in the process. 


The annual report highlights the foundation's achievements and the financial statement.

Please click here to read our first annual report.



The foundation is being presented in the 25th volume of the journal from the Swiss Society of Pediatrics.

Please click here to access the full article page 22-23 of the current Paediatrica edition.


The EspeRare foundation today announced that Peter Potter-Lesage, former founding Chief Financial Officer of MMV -  Medicines for Malaria Venture, was appointed to the foundation board, increasing the board’s size to 7 members.

“Peter has a fantastic expertise in building financial models for NGOs in drug development, we are honored to be able to benefit from this experience in the neglected diseases space to support the EspeRare’s sustainability and impact in rare diseases” commented Caroline Kant, executive director.
Peter is a member of the Board of Trustees of the Malaria Consortium (UK) and Senior Advisor for fundraising, donor relations and strategy at Medicines for Malaria Venture (MMV) in Geneva, where he previously held the position of Chief Financial Officer for 12 years. As founding CFO, he planned and executed the creation of the finance, internal control and fundraising/donor relations functions and devised financial modeling, strategy, procedures, reporting systems & financial risk management. He managed the growth of the organization from $3M to $75M per annum and coordinated with the UK government and other agencies to promote innovative financing solutions for malaria. Prior to joining MMV, Peter was a Director at UBS Investment Bank as relationship manager for Geneva International Organizations and Associate Director at SBC Warburg specializing in treasury, foreign exchange and cash management. He is a UK/Swiss national, lives in Switzerland and speaks English, French and German.

As a board member and the Treasurer, Peter will provide his expertise in financial strategy, fundraising and business development as well as risk identification and management to support the grow of Esperare’s activities in rare diseases drug development, innovative marketing strategies and health management.


The Loterie Romande has awarded the foundation a grant to fund the development of its translational platform IT infrastructure.

This platform is currently under development and will facilitate:
- The systematic identification and evaluation of new therapeutic opportunities for rare diseases
- The standardized management of biomedical data generated during EspeRare’s development of new treatments
- Data sharing with external partners (patient groups, universities and pharmaceutical partners)

A first version of the translational platform will be launched by the end of the second quarter of 2014. Until December 2015, the performance of the platform will be optimized and other data sources such as libraries of pharmaceutical compounds from the NIH (National Institute of Health) will be integrated. This platform will promote the development of the EspeRare’s portfolio of projects in rare disease and will allow to manage data according to quality standards of the pharmaceutical industry and regulatory authorities.

Through its support, the Loterie Romande contributes to the development of the foundation’s activities, thus helping the foundation to expand its impact in addressing the healthcare burden of rare diseases.

About the Loterie Romande


EspeRare and University of Geneva have received a 235’000 CHF grant from the Swiss Commission for Technology and Innovation (CTI).

This contribution is supporting the development of Rimeporide, a drug that would have the potiential to treat Duchenne Muscular Dystorphy, a neuromuscular pediatric disease for which no cure exists. This grant from the the Swiss Commission for Technology and Innovation is financing EspeRare's preclinical investigation of Rimeporide in collaboration with the Geneva University School of Pharmacy. Within the University, the research on Rimeporide is conducted by Professor Leonardo Scapozza’s group under the supervision of Dr Olivier Dorchies, an international expert in Duchenne preclinical investigation.

About the CTI: As the Confederation's innovation promotion agency, the Swiss Commission for Technology and Innovation (CTI) lends support to R&D projects, to entrepreneurship as well as to the development of start-up companies in Switzerland. CTI helps to optimise knowledge and technology transfer through the use of national thematic networks.
Click here for further information


EspeRare is representing Switzerland within a European Cooperation in Science and Technology Action (COST) focused on Citizen’s Health 

Brussels, Wednesday 27th of November, as members of the management committee, Sharon Terry and Caroline Kant have kicked-off the IS1303 COST* Action called Citizen’s Health through public-private Initiative: Public health, Market and Ethical perspectives. Twenty-two countries are represented in this action that aims at developing legal and scientific guidelines in the area of Citizen Health, in particular genetic testing and screening, biobanking, health ethics and justice and public democratization of research.

*COST | Cooperation in Science and Technology is one of the longest-running European frameworks supporting cooperation among scientists and researchers across Europe


AFM's review committee has decided to finance the development of Rimeporide in Duchenne muscular dystrophy (DMD).

Paris the 17th of July 2012, the French patient organization, a pioneer in funding rare disease research, has provided a positive review of EspeRare’s plan to test the efficacy of Rimeporide, a NHE-1 inhibitor, in a DMD animal model. As a consequent, AFMTéléthon has confirmed its intent to co-finance the evaluation of the therapeutic potential of Rimeporide. The animal testing is been performed by Dr. Kanneboyina Nagaraju specialized in DMD at the Children’s research institute in Washington DC in Professor Eric Hoffman's research center for genetic medicine.



EspeRare starts two research collaborations to demonstrate preclinical efficacy of Rimeporide in Duchenne.

Geneva, Switzerland, August 19, 2013 - The foundation announces that it has started two collaborations with the University of Geneva (Switzerland) and the Children National Medical Center in Washington DC (USA) to develop Rimeporide, its lead programme in Duchenne Muscular Dystrophy (DMD). The objective of these collaborations is to assess the therapeutic utility of Rimeporide for Duchenne patients. Rimeporide is a safe and specific Na+/H+ exchanger type 1 (NHE 1) inhibitor previously developed by Merck Serono for cardiac failure.

Rimeporide preclinical efficacy will be tested in DMD mice models. The assessment will be conducted under the leadership of Dr. Kanneboyina Nagaraju specialized in DMD at Prof. Eric Hoffman's research center for genetic medicine, Children National Medical Center, Washington DC.
In parallel, Dr Olivier Dorchies, a recognised DMD preclinical expert at the Pharmaceutical biochemistry lab of Prof. Leonardo Scappozza, University of Geneva, will also investigate the dose / efficacy relationship of Rimeporide in a mice model  and evaluate the efficacy in various cell lines.

Preliminary data from both collaborations are expected by second quarter 2014.

This preclinical work together with the already available data will support further development of this compound in DMD patients. This program has ultimately the potential to address muscle degeneration and cardiomyopathy in a broad segment of DMD children.


GaugeRx, a new web-based assessment tool is in development to accelerate drug development for rare diseases.

WASHINGTON, DC – June 10, 2013 – The EspeRare Foundation of Geneva, Switzerland and Genetic Alliance of Washington, DC announced a collaboration to streamline the process of translating research into health outcomes by strengthening the decision-making for drug development. The collaboration will result in a dynamic, web-based analytics and assessment tool that integrates and translates vast amount of knowledge about human health and disease to support drug (re)positioning and development decision-making for a broad range of healthcare stakeholders, from pharmaceutical companies to advocacy groups.

Read the full press release here