Advancing treatments for rare diseases Together



The last advances of the Rimeporide clinical study have been presented at the 22nd World Muscle Society congress, in St Malo. Numerous scientists and physicians have shown interest for this project.

Enrollment into this phase IB clinical trial should be complemented by the end of the year. Full results should be available during the first quarter of 2018. EspeRare is initiating discussions with  worldwide clinicians in order to design the phase II study which should start during 2018, depending  on funding.

Poster presented at the World Muscle Society congress



The Food and Drug Administration (FDA), the US Department of Health and Human Services, has granted an Orphan Drug Designation (ODD) for rimeporide for the treatment of Duchenne muscular dystrophy (DMD). See here for more details.

ODD is designed to promote the development of drugs that may provide significant benefit to patients suffering from rare, life-threatening diseases. In particular, this ODD grants Rimeporide a 7-year data exclusivity in the US.

Rimeporide already received ODD in DMD from the European Medicines Agency in 2015. Further to this designation in Europe, EspeRare has been able to conduct a phase Ib clinical trial of Rimeporide on young DMD patients. This clinical trial will be completed by the end of 2017.


In parallel of developing Rimeporide for the treatment of Duchenne muscular Dystrophy, EspeRare is now also initiating studying Rimeporide's therapeutic potential in Pulmonary Arterial Hypertension.

Rimeporide is a discontinued heart failure drug, that EspeRare has turned into an innovative first-in-class treatment for patients with Duchenne Muscular Dystrophy (click here to check this clinical development programme). Rimeporide has proven to be well-tolerated in multiple animal models and clinical trials in healthy adults and young boys with Duchenne.

 The mechanism of action of Rimeporide, the inhibition of a protein called NHE-1, holds potential in multiple therapeutic indications and EspeRare is working towards establishing collaborations with world-class partners to explore this potential.

 In particular, EspeRare started a collaboration with Larissa Shimoda, Ph.D. and John Huestch, M.D. at the John Hopkins University School of Medicine in the "Division of Pulmonary and Critical Care Medicine". The aim of this collaboration is to explore the therapeutic potientiel of Rimeporide in Pulmonary Arterial Hypertension, using in vitro and in vivo models. Over the last 10 years, this team has published important research articles on the contribution of NHE-1 in the development of this debilitating disease and the use of NHE-1 inhibitors to prevent it.

Positive results from this study would support the initiation of a Phase II clinical trial to test Rimeporide’s therapeutic potential in patients with Pulmonary Arterial Hypertension.


EspeRare is currently re-launching the development of ER004 (formerly known as EDI200) as a treatment for babies affected by X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED).

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.

ER004 is the first and only therapy for this disease. ER004 was developed until 2015 by Edimer Pharmaceuticals (US). Unfortunately its development was stalled following a clinical setback as the treatment, when administered to newborn babies, did not seem to provide therapeutic benefits.

In the meantime, Prof. Holm Schneider, a German medical expert, renewed hope for XLHED patients. When he administered ER004 in-utero to 3 babies (including Maarten & Linus, the babies in the picture), he could show that these patients were subsequently able to sweat normally. These results highlight the strong potential for this therapy, when administered during pregnancy, to address the most debilitating aspects of XLHED. See here for more information on Maarten and Linus.

Using Prof. Holm Schneider’s promising new in-utero approach, EspeRare is now restarting the development of this promesing therapy. Currently, the main hurdle to overcome is to find the right regulatory and funding path forward. Once those challenges are addressed, clinical development in Europe is set to restart as early 2018.

Importantly and in-line with our patient-centered approach, EspeRare is partnering with XLHED patient associations, such as the American organisation NFED, to better understand the patients needs and their expectations from a therapy. See here for news from NFED.

Together with our partners, we are working very hard to ensure a way forward for this ground-breaking treatment. We hope to be able to share more exciting news on this program soon!


Prof Muntoni is the Principal Investigator of the multicenter european phase Ib clinical study in Duchenne Muscular Dystrophy boys. He presented Rimeporide in an oral communication at the 12th European Paediatric Neurology Society Congress in Lyon on June 22nd.


On this occasion he gave an update on the preclinical and the clinical development of this innovative treatment that addresses in particular the life-threatening cardiac damage in Duchenne Muscular Dystrophy patients.


EspeRare President’s TedMed talk in now online.

In this inspiring speech, Sharon Terry shares her personal story about how, since science didn’t understand her kids’ rare disease, she and her husband decided to study it themselves. Thus they paved the way for patient empowerment in research and drug development.







Prim’enfance is a Swiss non-profit foundation focused on understanding, preventing, detecting and treating diseases arising in early infancy .

During an event celebrating the foundation’s 10th anniversary held at the Geneva Hospital (HUG), Prim’enfance has awarded EspeRare a grant for its FloWatch project. EspeRare is delighted and honored to patner for the first time with Prim’Enfance, joining forces to bring health to children born with severe heart defects with the FloWatch project.


It is with great pleasure that the EspeRare foundation welcomes a new member to its board, Mr. Denis Mortier. Denis brings core business and financial strategy acumen to the board’s expertise. His addition will support the current scale-up of EspeRare’s operations and R&D activities in order to reach even more children suffering with rare diseases.

Denis has been recently closely involved with EspeRare and has already had a considerable impact on shaping the foundation’s growth strategy. Denis has an outstanding track record in building financial strategies, and we are honoured and delighted to include him on our board. EspeRare will leverage on his wealth of experience to further its growth, and ultimately to enable EspeRare to better deliver on its mission” commented Caroline Kant, executive director.

Denis has held senior and executive positions within several private finance sector companies.  Amongst others, Denis has served as a partner of Coller Capital Ltd (UK). He was also appointed on the executive committees of both the Atomic Energy Commission (CEA, France) and of Credit National (France). He was the founding CEO of CEA Industrie and of Financière Saint Dominique. He served as an executive officer for the World Bank Group, as Chairman for the European Private Equity and Venture Capital Association (EVCA), as well as vice chairman of NASDAQ Europe. He also served on advisory boards and investment committees for multiple venture capital funds.
Denis completed his undergraduate studies at the “Ecole des Hautes Etudes Commerciales” (HEC) in Paris and also holds an MBA from Stanford Business School.



EspeRare's Annual Report for 2016 has just been published.
The Annual Report highlights the foundation's achievements for 2016 and its financial statements.
Click here to read our new Annual Report.



For its issue "Special rare diseases", the journal Biotech Finances has chosen to feature EspeRare's CEO, Caroline Kant.The interview summarises Caroline Kant's career path as well as EspeRare's aims, realizations and business plan, thereby informing finance and biotechs specialists of EspeRare's unique business model.


With this financial support, AltroDomani Onlus and Parent Project Onlus associations contribute to EspeRare’s first sponsored clinical study conducted with Rimeporide in patients with DMD in Europe (RIM4DMD). This support will provide financial back up for the follow-up of patients who participate in this clinical trial in Italy and facilitate the organisation of the travel and accommodation of these patients and their families during their study visits at the hospital.

The RIM4DMD clinical study was initiated in June 2016 at the San Raffaele Hospital in Milano where Dr Stefano Previtali is the principal investigator. Recruitment at this site is ongoing.
The study is also open for recruitment in 3 other clinical centres in Europe: the Santa Creu i Sant Pau Hospital (Barcelona, Spain), the Armand Trousseau Hospital/ I-motion (Paris, France) and the Great Ormond Street Hospital (London, UK).

To find out more about EspeRare's RIM4DMD clinical project, please click here.

To find out more about AltroDomani Onlus, please click here.

To find out more about Parent Project Onlus, please click here. And to read this news on Parent Project Onlus' website, please click here.


EspeRare is on screen in UBS branches to promote social innovators.

To find out more about this UBS programme, click here.


EspeRare is delighted to add a new program to its portfolio and to announce the relaunch of a previously marketed active implantable medical device, FloWatch.  EspeRare recently obtained the licensing rights to this clinically-proven device that has medical benefits in protecting the heart and lungs of babies born with severe congenital heart defects. This is EspeRare’s first “medical devices” program, adding diversification to our present portfolio of 4 therapeutic drug programs. This is also EspeRare’s first, market-ready therapeutic intervention. EspeRare’s medical devices team is working hard to have the first FloWatch units manufactured and marketed before the end of 2017.

FloWatch is a technology that could be offered to up to 1000 babies per year in Europe and to over 30,000 in Africa and Asia. In these latter regions, and in line with EspeRare’s ethical goals of universal access to medicine, we are evaluating a distribution model for FloWatch that is socially responsible, maximizes medical impact, and whereby profits made from the FloWatch sales in the developed countries support philanthropic distribution in the poorer countries.

Find out more about the FloWatch programme

Find out more about Congenital Heart Defects

Find out more about the FloWatch device



EspeRare is presenting its latest update on the clinical development of Rimeporide in Duchenne Muscular Dystrophy, "Translational Development of Rimeporide, a Sodium-Hydrogen Exchanger (NHE-1) Inhibitor, for Patients with Duchenne Muscular Dystrophy", at the 21st International Congress of the World Muscle Society in Grenada (Spain), October 4th to 8th.

rimeporide_esperare_WMS2016Click on picture to view

For more information on the WMS 2016 congress click here


EspeRare is pleased to announce a collaboration between Duchenne UK, a Duchenne patient organisation, and Professor Dominic Wells at the Royal Veterinary College, to test a potential new anti-inflammatory and anti-fibrotic therapy on the mdx mouse model for Duchenne Muscular Dystrophy (DMD).

Duchenne UK is providing £67,980 to fund an eight-month program that will assess the potential benefits of EspeRare’s ER03 compound in DMD. This preclinical studies will look at the scientific rationale to “re-position” the compound as a treatment for DMD.

This compound has already been tested in several animal models of inflammation and fibrosis. It has also been tested for safety in healthy volunteers, in several Phase I studies as well as in a Phase II study.

Those living with Duchenne lack the muscle protein dystrophin which acts as a ‘shock absorber’ for muscle. Without a shock absorber, everyday use of muscles cause them to become damaged. This damage promotes inflammatory processes which in turn cause hardening and scar formation. Muscles damaged in this way are termed fibrotic. It is hoped that this potential new therapy will be effective in treating both inflammation and fibrosis in the damaged muscles of those living with Duchenne. This would be a treatment for all those living with Duchenne, regardless of their age or DMD gene mutation.

If this research program shows promise, the compound will be able to go straight to a Phase II Proof of Concept study in DMD patients. In line with our commitment to repositioning existing drug and bring medicines to market in an accelerated way, Duchenne UK and EspeRare are committed to further develop this treatment in Phase II, if the compound shows efficacy.

Emily Crossley and Alex Johnson, Co-Founders of Duchenne UK, said; “We are delighted to be able to join forces with Esperare and the Royal Veterinary College, to confirm the efficacy in DMD and advance our knowledge about this compound. By leveraging on the available data package and capitalizing on its safe use in humans in previous studies, we hope that if it shows promise, we could go into patients with DMD as soon as early 2018.

Florence Porte, CSO of EspeRare said: “Thanks to the generosity of Duchenne UK, it has been possible to transform this shelved asset into a potential novel therapeutic option for patients with DMD. This innovative repositioning approach may offer to patients with DMD a new and safe disease modifier addressing inflammation and fibrosis and which may be combined with dystrophin replacing therapies.

For more about Duchenne UK -> link

Duchenne UK news release -> link

For more about Royal Veterinary College -> link


EspeRare is proud to collaborate with UBS on this international search for groundbreaking social innovators. In collaboration with ASHOKA, the financial institution will select high-potential social enterprises that address some of society’s most pressing challenges and, over the course of a year, support them to scale up their operations and impact. Caroline Kant, EspeRare CEO has become an ambassador to this program, as part of her mentoring role she will help select the wining social innovators and share her experience in pioneering social impact for orphan diseases.

"To address the unprecedented magnitude of today’s social challenges, financial and social innovation needs to come together. It is my hope that this program will demonstrate that social and financial success can merge to flu greater good” commented Caroline Kant

For more on the UBS program -> Link to the webpage
To view Caroline Kant's profile as a UBS ambassador -> Link 


Duchenne Parent Project Spain has been instrumental for the set-up of the Spanish clinical activities that focuses on testing Rimeporide in patients affected by Duchenne Muscular Dystrophy. Over the last few months, Dr Marisol Montolio Del Olmo helped EspeRare make the link with Dr. Jordi Díaz Manera from the Santa Creu i Sant Pau Hospital in Barcelona who will lead the first safety study of Rimeporide in 6 to 14 years old boys affected by Duchenne in Spain. In addition, DPP Spain is also providing administrative and funding supports for the travel and accommodation of patients and families who will be participating in this clinical trial.

Florence Porte Thomé, R&D Director of EspeRare said “Without the intervention of DPP Spain, it may not have been possible for EspeRare to open a clinical site in Spain. This partnership is a prime example of the power and importance of collaborating with patients organization to develop treatments for Duchenne Muscular Dystrophy.”

The study is now opened to recruitment in four clinical centers in Europe, the Santa Creu i Sant Pau Hospital (Barcelona, Spain), Armand Trousseau Hospital/ I-motion (Paris, France) and the San Raffaele Hospital (Milan, Italy) and soon in the Great Ormond Street Hospital (London, UK). “

For more information please visit: 


-> DPP Spain news release



The foundation's co-founders participated to the 6th edition of the Swisstainability Forum to debate on new business models to foster economic and social sustainability of Switzerland.

The G21 was held the 28-29 June 2016 at the SwissTech Convention Center, EPFL, Lausanne.

This annual event is meant to be the platform for the economic transition in Switzerland. Its aim is to encourage meetings and collaboration between scientific, economic, and political actors and NGOs, to support the companies in their innovating and sustainable projects, and to showcase the best initiatives and innovations which will be the leading projects of tomorrow, always in a forward-looking spirit.

For more -> link


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

Please click here to read our new annual report.


EspeRare Today achieves a significant milestone by enrolling patients with DMD in Rimeporide phase Ib trial:Our first DMD patient was recruited in France

Rimeporide, EspeRare's first programme reaches today a decisive clinical stage milestone. After encouraging preclinical results obtained in leading institutions and an orphan drug designation granted from the European Medicines Agency, the recruitment of patients with Duchenne Muscular Dystrophy from 6 to 14 years of age in a phase Ib study with Rimeporide started in Paris at the centre of I- Motion. Leading European neuro-paediatricians will be recruiting up to 20 patients with DMD in 2016 at the Armand Trousseau Hospital/ I-motion (Paris, France), the Great Ormond Street Hospital (London, UK), the Santa Creu i Sant Pau (Barcelona, Spain) and the San Raffaele Hospital (Milan, Italy).

This study is investigating the safety, tolerability, pharmacokinetics and pharmacodynamics of a 4-week treatment with rimeporide in these patients. In contrast to many therapeutics under development in DMD, rimeporide is indicated to all patients with DMD regardless of the causative mutations and age. To our knowledge, Rimeporide is one of the few clinical stage therapy intended to reduce inflammation and fibrosis both in skeletal muscles and in the heart.


Our hope is that Rimeporide may be a big step forward alone or in combination with other available treatments to address DMD including cardiomyopathy which at present is a progressive disease with very limited therapeutic options.


For more information see our website and also