NHE1

EspeRare presents recent data on its JNK inhibitor program (ER005) at the 51th Congress of the “Société Internationale d’Oncologie Pédiatrique” (SIOP) https://siop-congress.org/ ER005 is is a first-in-class JNK inhibitor (c-Jun N-terminal Kinase) that was shown to be safe in humans in other fibrotic diseases. EspeRare is repositionning ER005 for rare oncologic pediatric diseases. At the SIOP, data will be presented on its selective cytotoxicity against rare and pediatric cancers. ER005 is an ideal candidate to be tested in combination with other chemotherapeutic drugs. Repositioning ER005 poster.pdf EspeRare presents its prenatal project, ER004 in XLHED, at the International Fetal Transplantation and Immunology Society (iFeTIS) in Singapore 6-7 September 2019. At the forefront of foetal medicine, this congress gathers clinicians and researchers from around the world, with a common goal of discussing their progress to deliver cell, gene or protein therapies to foetuses. 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 medical device program for newborn affected by severe cardiac defects has been selected among 11 finalists of the “Make Your Medical Device Pitch for Kids!” competition at the Sixth Annual Pediatric Device Innovation Symposium. Hosted by the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National Health System. Follow the competition on Twitter #Innovate4Kids Find out more on the competition “Make Your Medical Device Pitch for Kids!” Find out more about Sixth Annual Pediatric Device Innovation Symposium. Find out more about the FloWatch programme EspeRare presented its results of Rimeporide's phase Ib study in Duchenne muscular dystrophy patients at the 15th 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 and Edimer Pharmaceuticals Inc. announced today that they have entered into an agreement for EspeRare to receive the full rights to continue the development of ER-004, an innovative therapy for X-linked Hypohidrotic Ectodermal Dysplasia (XLHED), a rare genetic disorder. EspeRare will be relaunching a clinical trial in the first half of 2019 geared towards generating evidence for marketing approval. These efforts will benefit from the EMA’s PRIME (PRIority MEdicines) scheme, due to the rarity of the disease, the absence of alternative treatment options and the encouraging results obtained in babies treated prenatally by Prof. Holm Schneider. This leading German paediatrician and specialist in XLHED pioneered the first successful “in utero” therapeutic administrations to affected fetuses at the University of Erlangen-Nuremberg. As highlighted in the recent New English Journal of Medicine (NEJM) publication, the results indicate that antenatal administration of ER-004 has the potential to address some of the most severe and costly symptoms of XLHED (N Engl J Med 2018; 378: 1604-1610). The Ectodermal Dysplasia International Network Co-Chairwomen, Diana Perry and Ulrike Holzer, said: "We are delighted EspeRare is relaunching this programme following Professor Schneider's very exciting results. The Ectodermal Dysplasia community fully supports this programme and looks forward to working closely with EspeRare, Professor Schneider and our members around the world." “This is such an exciting time for the EspeRare team which warmly thanks all of its supporters who contributed greatly to giving a second life to this therapy, bringing back hope to the XLHED patient community” said Caroline Kant, Founder and CEO of EspeRare. She added that “This innovative treatment approach has the potential to fundamentally change the lives of these patients and may also pave the way for other prenatal treatments to correct genetic diseases before birth.” XLHED is a rare disorder resulting from genetic mutations in the gene EDA. Patients affected by XLHED are at risk for life-threatening hyperthermia based on their inability to regulate body temperature, and for clinically-significant pneumonias resulting from their abnormality in respiratory secretions. Cardinal signs and symptoms in XLHED include strongly diminished or absent sweat, reduced and abnormal airway secretions, few and often misshapen teeth, and absent or sparse hair. XLHED patients who survive infancy are predisposed to atopy, presenting with eczema and asthma, chronic sinusitis, recurrent nose bleeds, and dry eye complications. Almost uniformly, they require dental interventions including early prostheses and implants. Their susceptibility to hyperthermia impacts normal participation in outdoor activities, sports and school attendance. Medical, quality of life and self-esteem issues are life-long in this disorder. As is generally true with X-linked inheritance, males are fully affected while females are variably affected. For further information on XLHED, please visit this website. ER-004 is a recombinant Ectodysplasin-A1 protein (EDA1) initially engineered in Lausanne, Switzerland, and further developed by Edimer Pharmaceuticals, Inc. This synthetic equivalent to EDA1 acts as a substitute for the dysfunctional protein in XLHED patients to potentially induce normal development of key ectodermal structures such as sweat glands, teeth and hair. It is the first and only treatment specifically targeting XLHED. Administered at the right time during foetal development, it has the potential to become a “single course” treatment, effectively switching off symptoms of the disease throughout patients’ lives. Please find here the full press release in English, in German and in French. 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 first clinical study of Rimeporide in boys with Duchenne Muscular Dystrophy (DMD), the RIM4DMD study, has been completed. The study examined the safety, tolerability and pharmacokinetic of Rimeporide, in patients aged 6 to 11 years affected by DMD. Effects on serum and imaging biomarkers were also explored. This RIM4DMD study started in March 2016 in 4 clinical centres in Europe: San Raffaele Hospital (Milano, Italy), Armand Trousseau Hospital/ I-motion (Paris, France), Great Ormond Street Hospital (London, UK) and Santa Creu i Sant Pau Hospital (Barcelona, Spain). The enrolment of 20 patients was completed in December 2017. The patients received Rimeporide orally for 4 weeks. 4 dose levels were tested, in 4 ascending cohorts with 5 patients taking the drug at each dose level. The decision to progress to the next higher dose was made after review of safety and tolerability data for the preceding dose by an independent Safety Monitoring Committee (SMC). Good tolerability was demonstrated in all dose cohorts, confirming the results obtained previously in adult subjects. Detailed analysis of the study results is ongoing. EspeRare is engaging discussions with key opinion leaders in neuromuscular diseases and cardiomyopathy in order to design a phase II /III study which should start at the end of 2018/early 2019, depending on funding. EspeRare would like to thank the patients and their family for their participation, all the clinicians and clinical sites’ staff for all the work done, as well as the patients organisations for their scientific and financial support, e.g. AFM-Téléthon, Altrodomani Onlus association in Italy, Duchenne Parent Project Italy and Duchenne Parent Project Spain. 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 UK-based organisation Findacure invited EspeRare to present its innovative model at a conference on drug repositioning. This annual event brings together in London major stakeholders in the field (patient groups, clinicians, researchers and life sciences professionals) on the occasion of World Rare Disease Day. This is a unique opportunity for all these actors to discuss the latest advances in drug repositioning as a source of future treatments for rare diseases. Caroline Kant, EspeRare's CEO, will explain the philanthropic venture model and how it accelerates the development of treatments for rare diseases. Click here for details on her presentation. Picture credit: Barbara Asboth 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. In its 24 November 2017 edition, the economic magazine of Bilan devoted a section to philanthropy for research in Switzerland. EspeRare is featured in an article about the muliple ways to do Philanthropy in the research area. The interview with Caroline Kant, CEO of EspeRare, emphasises the urgency of finding accessible treatments to impact the lives of children with rare diseases. She then explains how the foundation's philanthropic venture model allow to accelerate to fight for rare diseases. On the occasion of the 10th anniversary of its TV show Toutes Taxes Comprises (TTC), the Swiss TV channel RTS carried out a report on the Health Valley Switzerland. EspeRare illustrates, alongside Sophia Genetics and Mindmaze, the diversity, complementarity and dynamics of this ecosystem. The Health Valley Switzerland, whose name is inspired by Silicon Valley in the USA, is a grouping of biomedical companies from French-speaking Switzerland. The network involves public and private research centres, companies and start-ups working in biomedical technologies, as well as hospitals and clinics. It includes more than 1,000 member companies and 25,000 employees. The Health Valley fosters interaction among its members, and gives international visibility to the biomedical expertise of French-speaking Switzerland. 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. 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 looking to re-launch 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.

NORTH CHICAGO, Ill., Feb. 2, 2023 /PRNewswire/ -- Rosalind Franklin University of Medicine and Science (RFU) announced today that one of its early-stage companies — Resuscitation Therapeutics (RTx), which is focused on developing new therapies for life-threatening acute cardiovascular events — is preparing an Investigational New Drug (IND) application for submission to the U.S. Food and Drug Administration proposing a novel treatment for sudden cardiac arrest (SCA). Continue Reading RTx founder Raúl J. Gazmuri, MD, PhD, FCCM, is a professor of medicine and professor of physiology and biophysics for the Chicago Medical School at Rosalind Franklin University of Medicine and Science. He is also chief of Critical Care Medicine and ICU director for the Captain James A. Lovell Federal Health Care Center. RTx has developed technology to attenuate reperfusion injury during resuscitation for sudden cardiac arrest. More than 350,000 people suffer an episode of out-of-hospital cardiac arrest (OHCA) each year in the U.S. but less than 10% survive. A major obstacle to survival is reperfusion injury, which occurs during CPR when oxygenated blood is returned to a heart muscle that has been deprived of oxygen for several minutes. The injury reduces the heart's ability to pump after resuscitation. The IND application is for the use of the hormone erythropoietin (EPO) to ameliorate reperfusion injury during CPR. RTx is looking to finalize its IND application during the first quarter of 2023 and to undertake a multi-center clinical trial early next year. RTx was founded in 2017 by Dr. Raúl J. Gazmuri, FCCM, a professor of medicine and professor of physiology and biophysics at RFU's Chicago Medical School, and chief of Critical Care Medicine and ICU director at the neighboring Captain James A. Lovell Federal Health Care Center. The company is rooted in decades of preclinical research at the university's Resuscitation Institute, directed by Dr. Gazmuri, who discovered the benefits of ameliorating reperfusion injury during CPR through the use of compounds known as NHE-1 inhibitors. Although NHE-1 inhibitors are not currently available for clinical use, the research pointed to EPO, which is approved by the FDA for the treatment of anemia in patients with chronic kidney disease. Work at the Resuscitation Institute and a pilot clinical study in Slovenia supported the role of EPO for cardiac resuscitation and led to patents that provide exclusivity for its use in this new indication. Two key milestones were achieved by RTx in the fourth quarter of 2022: the first, a favorable pre-IND meeting with the FDA's Division of Cardiology and Nephrology, and second, the securing of an exclusive option with RFU to license the patents for this new indication. The clinical trial will assess the effects of administering EPO during CPR in adult victims of OHCA. The primary outcome will be 72-hour survival. Several additional outcomes will be assessed, including survival at 90 days and whether those who survive do so with adequate brain function. A positive result of the clinical trial will pave the way for FDA approval for clinical use and subsequent commercialization. "SCA is a deadly condition where little progress has been made and no therapies targeting reperfusion injury for cardiac resuscitation have come to the market," said RTx Chief Operating Officer Dr. Iyad Ayoub. "We are very encouraged by our FDA pre-IND meeting and the guidance provided." RFU Executive Vice President for Research Dr. Ronald Kaplan commended the progress made by RTx based on the internationally-recognized research conducted by the Resuscitation Institute. "It's our great hope," he said, "that this potential therapeutic solution for sudden cardiac arrest will save many lives in the U.S. and around the world." Find more information on RFU Helix 51 incubator companies and RTx Inc. Office of Marketing and Communications [email protected] SOURCE Rosalind Franklin University of Medicine and Science

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... Read More 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 http://www.ema.europa.eu/ema/ Press relations: Gwen Laporte- laporte.gwen@esperare.org 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... Read More 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: http://www.makingmorehealth.org/MMH_Activities/caroline-kant.html http://www.makingmorehealth.org/ 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... Read More 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... Read More "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... Read More 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 (www.renalradar.org), 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,... Read More "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... Read More 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 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.... Read More 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. 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... Read More 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 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... Read More 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... Read More 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... Read More 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... Read More 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 (... Read More 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... Read More 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 The EspeRare foundation has been presented by Sharon Terry at the International Rare Diseases Research Consortium (IRDiRC) in Dublin, on April 16th. About IRDiRC: The International Rare Diseases Research Consortium (IRDiRC) was initiated by the... Read More The EspeRare foundation has been presented by Sharon Terry at the International Rare Diseases Research Consortium (IRDiRC) in Dublin, on April 16th. 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. View the programme View conference report Today we are proud to announce the launch of the EspeRare Foundation, a nonprofit organisation set up by three Merck Serono employees. Geneva, Switzerland, April 15, 2013 – Merck Serono, a division of Merck, Darmstadt, Germany, today announced the... Read More Today we are proud to announce the launch of the EspeRare Foundation, a nonprofit organisation set up by three Merck Serono employees. Geneva, Switzerland, April 15, 2013 – Merck Serono, a division of Merck, Darmstadt, Germany, today announced the launch of the EspeRare Foundation, a nonprofit organization set up by three Merck Serono employees, in the framework of the Merck Serono Entrepreneur Partnership Program (EPP). Merck Serono will donate an initial €2.8 million funding to the EspeRare Foundation. In addition, Merck Serono will transfer the rights of rimeporide, a compound previously developed for heart failure by Merck. The Foundation will investigate this compound in Duchenne Muscular Dystrophy (DMD), a lethal genetic rare disease affecting 1 in every 3 600 males. Read the full press release here