2015 - TREAT-NMD · support of Researchers, Clinicians and families ... could potentially be applied for neuromuscular diseases and neurodegenerative diseases. Dimitris Athanasiou

2015

TREAT-NMD Executive Committee

Nominees for the Two Patient Organisation

Representative Positions

Supporting Statements (in alphabetical order)

Ravdeep Singh Anand Dystrophy Annihilation Research Trust (DART) Leading the charge with the ever-growing support of Researchers, Clinicians and families with kids affected with Muscular Dystrophy, Anand is reaching out to parents across the Sub Continent and Asia to help them cope with the disease and provide solutions to better their quality of life through proper standards of care. With the goal of reaching out to as many people as possible, Anand is creating awareness by having organized walkathons, marathons and medical camps. He has also embraced the world of media by giving radio broadcasts and newspaper articles and is currently taking on the fast growing field of social media. Ravdeep Singh Anand has been tirelessly working towards a deeper understanding of Muscular Dystrophy ever since discovering his son was affected by the disease (DMD) in 2003. With India having one of the largest populations of Muscular Dystrophy patients, it was startling and quite disheartening to see that no significant research was being conducted in India. Anand took the disease head on and started the Dystrophy Annihilation Research Trust [DART]. DART's mission is to create a common platform to provide counselling and support for all Muscular Dystrophy patients and their families, as well as to create awareness of Treatments, and Drug Trials, and last but not least, facilitate research into alleviating the scourge of Muscular dystrophy. Through the efforts of the DART team, Anand has been able to set up a state-of-the-art R & D facility dedicated to Muscular Dystrophy in Bangalore. The tagline of DART says it all – ‘Aspiring to achieve total annihilation of Muscular Dystrophy’

Ofir Arad - Duchenne Parent Project Spain, Dr. Ofir Arad has a PhD in Synthetic Organic Chemistry with a very wide

background ranging from Medicinal Chemistry to the Medical Device industry.

He founded a start-up that is developing a medical device for acute stroke

treatment.

Dr. Arad began his career as an Organic Chemist synthesising molecules for the

agrochemical and the Pharmaceutical Industry and participating in several

Material Sciences projects.

His principal interest was always the Health Industry, and holds a PhD in the

synthesis of photosensitizers for Cancer Photodynamic Therapy.

Dr. Arad has a wife and three kids, and his life changed dramatically when his

son was diagnosed with Duchenne Muscular Dystrophy. After assimilating his

son's condition he has decided to actively collaborate with a research group

focused on neuromuscular diseases. His Research Project is focused in

developing drug delivery systems for mutation specific therapies. This strategy

could potentially be applied for neuromuscular diseases and neurodegenerative

diseases.

Dimitris Athanasiou

My name is Dimitris Athanasiou. I hold a BA in Business Administration an MBA in Financial Management and I speak three European languages (English, French and Greek). I have more than 25 years’ experience with international business projects in various countries financing and reorganizing companies. I am married and have two sons. In 2011, my son Hermes was diagnosed with Duchenne Muscular Dystrophy in Athens, Greece, where we live. Having a passionate personality and strongly believing that action is the antidote of despair, I used my international business network to provide me initially with expert medical knowledge and at the next level with personal contacts to EU parliament members, Academia, Researchers, Industry and to help me connect with fellow NMD International Patient Organizations. After the diagnosis I realized that educated patients are an essential part of our cause in order to participate as an equal partner in any discussion with other stakeholders and be heard. I educated myself with basic rare disease and advocacy knowledge via the Eurordis Summer School and then was accepted to the 18 month Patient Expert course of the European Patient Academy of Therapeutic Innovation (EUPATI) acquiring basic biotech and regulatory knowledge. Last year I was nominated patient expert by EMA and have participated in several EMA Scientific Advice meetings for Duchenne, providing the essential patient representative perspective when companies request regulatory advice for development of their product. Locally I established the Parent Project of MDA HELLAS in Greece, reactivated our National registry and our first External Scientific Advisory Committee. In a period of extreme financial crisis for the families, we managed to upgrade the standards of care, offering free up to date services in our NMD center and making available the only drug that is authorized for DMD on our health system. Soon I realized that we might act locally but we have to think globally if we ever want to develop lifesaving drugs for NMDs, so I became an active member of United Parent Project MD (UPPMD), advocating for DMD with Regulators, EU authorities, Industry and trying to establish a vibrant network of patient organizations where our children will have the best care wherever they are.

Being part of TREAT-NMD I would like to: - bring an "educated" patient's view in order to warranty an equal place in the discussions with other stakeholders promoting patient interests, - disseminate the EURORDIS and EUPATI knowledge over the network in order to be able to create and educate a new generation of patient experts - push for more , better and cheaper drugs for NMDs by negotiating with Industry , Regulators and HTAs,

- use my financial experience in order to assist the sustainability of the network and - bring and share my passion , my energy and "can do" attitude in our network in order to profit the most of this new era of promising medical development for NMDs Dimitris Athanasiou

Mukesh D. Jain MD Mukesh D. Jain MDProject Coordinator, Ayush Muscular Dystrophy Society (AMDS) Indiahttp://www.ayush-samiti.co.in

I have been actively involved with Ayush Samiti (India)'s "parents/patients’ project" over the past 19 years. There I have closely seen and experienced how difficult it is for parents/caregivers to take care of a muscular dystrophy afflicted child/patient. Lack of relevant information, medical support, guidance, etc. makes the situation even worse for patients and parents/caregivers in under-developed countries. Children in India afflicted with Duchenne Muscular Dystrophy live a shorter life as compared to their counterparts in developed countries. Even patients affected by milder variants of muscular dystrophy become non-ambulant and, and specialized care & support system for muscular dystrophy patients in India has resulted in very poor dependent 10-15 years earlier than similar patients in developed countries. This lack of information, knowledge quality of life, mental agony, depression, and hopelessness for the patients and parents/family/caregivers and in some cases, even caused disability and premature death. In addition to my hands-on experience in this area, I'm also a keen researcher and knowledgeable about current literature and findings on this topic. This has helped me provide relevant information to patients and their parents/caregivers and also set realistic expectations. For example, I've made them aware that despite the expansive wealth of research following the discovery of the DMD gene 25 years ago, there is still no real curative treatment for Duchenne muscular dystrophy. But they are also hopeful knowing that there are currently many promising lines of research, including cell based therapies and pharmacological reagents to up-regulate dystrophin via read through of non-sense mutations or by up-regulation of the dystrophin homologue utrophin. With due sympathy for the families/caregivers of patients, I plan to continue improving the dissemination of reliable, adequate and accurate information through Ayush Samiti (India) about NMD and Muscular Dystrophies to patients and their families/caregivers in both India and other under-developed countries.

Yuriko Oda

Yuriko Oda is a president of Nonprofit-organization PADM. She was diagnosed with Distal Myopathy, DMRV/hIBM/GNE Myopathy in 2002. GNE Myopathy is very rare disease that induces muscle weakness, with probably more than 2000 patients in the world. She founded PADM, the Patients Association for Distal Myopathy in 2008. There are 130 members. Japanese scientist Dr. Ichizo Nishino proved the effective material for GNE Myopathy, however there were no pharmaceutical companies interested in further development of our medicine. PADM petitioned repeatedly. Finally, it started in Japan in 2010, and after that in the U.S and other countries. Since April 2008, PADM held a campaign for collecting signatures and it approached 2.04 million signatures in May 2014. All the collected signatures were delivered several times to the each Minister of Health, Labor and Welfare Ministry. As a result, distal myopathy has been registered as a designated rare disease in 2015 in Japan. Her activities were broadcasted in media, TV, newspaper, magazine, radio, etc… PADM wishes to overcome our difficulties and disabilities not only for us, but also for all kinds of patients. We have started to build a new system for barrier-free map in 2015, when we got the grand prize in Google Impact Challenge in Japan. NPO法人 PADM 遠位型ミオパチー患者会 Nonprofit Organization

PADM/Patients Association for Distal Myopathies 代表 織田 友理子 President Yuriko Oda E-mail: [email protected]: http://enigata.com/事務局: 〒146-

0085 東京都大田区久が原3-26-16 3-26-16, Kugahara, Ohta-ku, Tokyo, Japan

Robert Palm "Robert Palm is the father of a 14-year old Duchenne boy in Switzerland. In 2006 he co-founded Progena Foundation, which is active for children with muscular diseases. Progena's main purpose is to provide information to all parties concerned in Switzerland: parents, patients, doctors, schools, etc. Since many years, Robert has been very active in building awareness for the Duchenne disease. For example, in 2011 Progena co-organized the second TREAT-NMD conference which was held in Geneva. Progena has also initiated and co-financed the Swiss patients registry. Progena is a member of UPPMD."

Petra Palmgren Lindwall

Country: Sweden Position: Chairman of the Swedish Research Foundation for Muscular Dystrophy Introduction Since the beginning of 2014 I have been the chairman of the Swedish non-profit patient organisation Swedish Research Foundation for Muscular Dystrophy (SMDF). I am also the mother of 8 years old Max who has Duchenne and diagnosed at age 3. SMDF is financed by only donations. Our focus is to finance Swedish DMD-related research, do advocacy towards politicians, municipalities, caregivers and such and family support. We have an executive board with 3 professors/associate professor, 1 person with DMD and 6 parents to DMD diagnosed children. Our professors are a part of the international DMD research community and involved in studies for the major DMD treatment pipeline. In Sweden we have approx. 350 boys with DMD. Since taking the position of being the chairman we have produced a Swedish Alert Card for diagnosed, families, caregivers, schools to use in case of an emergency. We have published a debate article about the slow process for decision on financing Translarna for Swedish patients which generated a lot of media and all large morning and evening papers published from this as well as national TV interviewing med as chairman and mother together with Mar Tulinius and Thomas Sejersen as medical professionals. We have just successfully released 1600 DMD balloons all over Sweden with more then 2000 participants giving some media attention. We have also opened up to the public with our own Facebook-page and Twitter account. Next on the agenda is a Christmas fundraising campaign and a symposium för caregivers, professionals and families in April 2016. Privately I run my own company working professionally with being the chairman on company boards of directors for several Swedish high growth high tech companies. I do a lot of business advisory work for company owners, investors, board of directors and CEOs. I lecture at Gothenburg University, Chalmers University of Technology and I am accredited teacher at the Swedish Academy of Board Directors. I am also a board member of the local organisation for another non-profit organisation, RBU, focusing on children and young adults with disabilities. My reason for nomination is to be a part of a larger MD community then only Sweden and make a difference for this community internationally. I am use to committee assignment and think that my background, my experience and personality is suitable for this. I am knowledgeable and if there is something I

don’t understand I will find out. I am a networking person and have a wide network in all kinds of areas. I want to make a difference and I will make a difference! Kind regards, Petra Palmgren Lindwall

Laura Elaine Warner Rufibach I would be excited and honored to become a member of the TREAT-NMD Alliance Executive Committee. I have a PhD in Molecular and Human Genetics and have worked extensively on numerous neuromuscular diseases in both academic and foundation settings. For the past 8 years I have worked for the Jain Foundation, whose focus is LGMD2B/Miyoshi, previously as Director of Research and currently as VP of Clinical Strategies. I am also a member of the Scientific Advisory Committee of the Neuromuscular Disease Foundation, whose focus is GNE myopathy. I believe that my strong scientific training, extensive knowledge of neuromuscular diseases, and proven dedication to advocating for the patient perspective through my work with various foundations makes me an excellent candidate for the committee. Throughout my career, I have been involved in research to understand the pathophysiology of disease, have led the development of diagnostic programs, and have aided in the identification and testing of possible therapeutic avenues for various neuromuscular diseases. I am also a strong advocate and supporter of a patient’s right and need to play a role in the development of therapeutic avenues for their disease. I possess a thorough understanding of the inner workings of academia, industry, and advocacy foundations, which uniquely qualifies me to work effectively with all other members of the committee to reach our common goal of bringing new therapies and treatments to patients as quickly and as safely as possible. Too often, I feel that this goal becomes lost in the sea of politics, scientific ambition, and regulatory issues, so I welcome the opportunity to help the committee maintain its focus and patient perspective. Thank you for your consideration and please don’t hesitate to contact me if you would like further information.

M.Louis Stanislas “Please make GLOBAL the TREAT-NMD in its truest sense, by including the excluded region”. Act Now; Vote for me! Thank you.

Muscular Dystrophy Foundation India is a winner of PTC STRIVE Award.

Angela Stringer Like many parents I found myself involved with Duchenne when my son was diagnosed with the condition at the age of 3 years. Since then I have been a trustee with the Duchenne Family Support Group and since 2007 I have been the Curator for the UK DMD Registry at Action Duchenne. In both roles I am in a unique position to give practical advice and moral support to fellow parents and patients with empathy. They say ‘the real experts are the parents’ and it is so true as parents and those living with Duchenne want more information and want the terminology explained to them in easy to understand language, not research jargon. I am in daily contact with many families and the information I can pass on is invaluable. They want to know about research and clinical trials, but additionally I can tell them about the standards of care they should expect and discuss the practical issues such as schooling, education, adaptations, transport, physiotherapy, hydrotherapy, the list is quite endless and daunting. I was pleased to be awarded a place with EUPATI and am a student with the first cohort of 50 out of 300 applicants, graduating at the end of 2015. My motivation for wanting to take part in this course was to become a lay expert in medicines research and the development process. My objectives are to fill in the gaps in my knowledge and to develop better understanding of the research process and to better engage with, not only families, but clinicians, researchers, geneticists and other professionals. The involvement in the research and development process of lay people like myself has become more common and the professionals are seeing the value of involving us. For instance, I was recently asked to join a panel for a drug company to attend an ethics committee meeting for approval to start a trial. I was able to give answers to questions from a parent’s perspective and point of view regarding the use of children in clinical trials and the importance to the Duchenne community. I was also as consulted on the content of the clinical trial consent forms for parents and children. I work on the ‘ground floor’ and talk to families living with the condition every day and I understand how much finding a cure for this devastating disease means to the families. Angela Stringer DMD Registry Curator

Jyothsna Tirunagari Jyothsna Tirunagari is a Educationalist, Founder and Chairman for "Samskara" A non profitable organization “Providing a rich platform for Indian doctors and bio entrepreneurs transforming their ideas to innovation and developing integrated innovation business models to the global market for fast, better and effective medication reaching to people. Jyothsna Tirunagari President SAMSKARA -Transforming Lives 8978147767 [email protected] www.samskarafoundation.in