28 janvier 2016: Caroline Kant et Florence Porte
Jeudi 28 janvier 2016, 12h30
CMU - C150
" Tackling the problem of rare diseases requires innovation in two areas. In addition to identifying new drug candidates that target unusual pathological mechanisms, it is necessary to find new solutions for bringing together the expertise, patient groups and the funding required to transform them into new medicines. Caroline Kant and Florence Porte-Tomé are the co-founders of EspeRare, a Geneva-based non-profit organization that is making significant progress in both of these areas."
Oliver Hartley
, Host - Département de pathologie et immunologie, Faculté de médecine UNIGE
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Dr Caroline KANT
Executive Director EspeRare Foundation 
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Dr Florence PORTE-THOMÉ
Research and Development Director EspeRare Foundation 
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«Transforming a shelved Pharma compound
into a new therapy for Duchenne muscular dystrophy»
Duchenne muscular dystrophy is a rare X-linked form of muscular dystrophy that affects around 1 in 3,600 boys, resulting in muscle degeneration and premature death. It is one of the many rare or orphan diseases for which there is currently no cure. Developing effective medicines to combat these diseases, which grouped together affect millions of people worldwide, represents a huge challenge. In Duchenne muscular dystrophy, the absence of a functional dystrophin protein leads increased retention of calcium and sodium in muscle cells, ultimately damaging muscle integrity. Inhibiting the sodium-hydrogen antiporter 1 (NHE-1) is a potential strategy to reduce pathological sodium and calcium cellular retention in muscle cells. Rimeporide is a selective NHE-1 inhibitor that was developed as far as Phase II clinical studies by Merck Serono to treat congestive heart failure, but was subsequently discontinued for strategic reasons. The EspeRare Foundation, a non-profit spin-off from Merck-Serono, is now developing Rimeporide as a novel treatment for Duchenne muscular dystrophy. Promising preclinical data have been obtained, and Rimeporide was granted orphan drug status by the EMEA in 2015, with a Phase Ib study in young Duchenne muscular dystrophy patients currently underway in Europe. Caroline Kant and Florence Porte-Thomé will not only discuss the science underlying the clinical development of Rimeporide, but also the pioneering work that EspeRare has done in establishing a framework of collaboration involving the pharmaceutical industry, patient organizations and academic partners in order to solve the problem of how to bring together the expertise and funding required to meet the challenge of combating rare diseases.
Biographies
Caroline Kant is a founder and the Executive Director of the EspeRare Foundation. Before founding EspeRare, Caroline worked for 7 years in the pharmaceutical industry managing R&D teams. Prior to that, in the United States, she helped launch 3C Interactive, a software company in Silicon Valley, while leading the "rebranding" of several fashion labels. Caroline holds degrees in molecular neurobiology, design and product development. She was educated in Geneva and in California. She is an ASHOKA fellow and in 2015 she was awarded Swiss CFE woman entrepreneur of the year.
Florence Porte-Thomé is a founder and the R&D Director of EspeRare. Florence has 18 years’ experience in pharmaceutical R&D and a background in immunology and oncology drug development. After graduating as a doctor in pharmacy in Lyon and a degree in clinical pharmacology, she joined Merck in 1997 in the field of clinical pharmacology and pharmacokinetics, leading translational research and successfully led the development of several therapeutic programs in various therapeutic areas. She worked also worked in academia as a clinical project leader, driving pediatric studies in a Cancer Research Centre in Lyon.