Please describe your involvement in TREAT-NMD to date (no more than 250 words).
Why do you think you (or the nominee) would be a good candidate for the Executive Committee? Please also include key attributes you feel would be of value to the Executive Committee. (No more than 250 words)
Forename
Surname
Institution/Organisation name
Hasan
Adeel
Chandelle Welfare Sciety
Hello I am Hasan Adeel from Pakistan.I have been diagnosed with Limb Girdle Muscular Dystrophy. There are hundreds of patients in my country still looking someone who could guide them in a proper way other than doctors even they don't know much about this rare disease. So I would like to be a resourceful person for them representing as Executive Committee member from South Asia region. It would be great an honor to me to be the part of TREAT-NMD.
There are lots of reasons but telling you some of them. As a patient living with a nuro muscular disease ( my siblings have the same disease) i would be able to recommend good doctors, their issues and health related matters better than others. We have lack of experienced doctors, physiotherapists and experts to deal and having knowledge of this disease. So, to be the part of your team i would suggest and support them in more efficient and effective way. Thanking you in an advance.
Sigrid
Baldanzi
University of Pisa
participation to the more recent conferences and activities
psychologist expert in relationships with patients organization dealing with social, psychological, independent life and everyday life issues.
Fabiola Maria
Bertinotti
UILDM - Unione Italiana Lotta alla Distrofia Muscolare
To date I have just been accepted an individual member of TREAT-NMD.
Since my adopted son was diagnosed with Facioscapulohumeral Muscular Dystrophy in 2005, I have got deeply involved in the world of neuromuscular diseases both at local and international level. In Italy, where I live with my family, I have been an active member of Unione Lotta alle Distrofie Muscolari (UILDM), http://www.uildm.org/, the largest and most long-established patients’ association in the space of NM disorders, and I have recently joined Coordinamento Associazioni Neuromusculari (CAMN), an alliance of various NM patients’ associations for which I have been worked as a member of a lobbying team addressing Italy’s Minister of Public Administration. At international level, I’ve been amongst the founding members of FSHD EUROPE http://fshd-europe.info/, a federation of local FSHD/MD organizations whose main objective is to represent the interests of these European organizations in relation to its various international stakeholders. After serving for 3 years as president of FSHD EUROPE during which the association has taken off and expanded his reach to include various European FSHD-MD local associations, since 2016 I have been covering the role of Head of Family's Interests. In the last two years, I have also been collaborating with FSHD Champions, https://fshdchampions.org, an international alliance supporting FSHD research, where I have been part of a committee focused on the communication strategy of a campaign called FSHD Worldwide Day. I would like to bring my 10-year experience as an active patient’s parent into TREAT-NMD in the hope that my expertise as a caregiver always in search for innovative solutions.
Margaret
Bowler
Myotonic Dystrophy Support Group
I am not a patient. I started the Myotonic Dystrophy Support Group in 1985 following the diagnosis of myotonic dystrophy with my husband and youngest son. My husband died 20years ago and Peter my son 2 years ago. The Charity has 2,000 contacts. I attend the IDMC meetings each 2 years. MDSG supports Research in Nottingham with Prof. David Brook, and Prof. Darren Monckton in Glasgow and Dr. Jeremy Rhodes in Norwich.
I have a nursing and Midwifery background being a Community midwife for 40 years and have worked with Youth organisations my whole life and for 30 years looked after my disabled son and maned the MDSG Helpline for 20+ years. I am the CEO for Myotonic Dystrophy support group UK .. ( Volunteer)
Emily
Crossley
Duchenne UK
Emily and Duchenne UK are strong supporters of TREAT-NMD and have worked closely with TREAT-NMD via the Coordination team in Newcastle and Great Ormond Street London for several years. DuchenneUk specifically funds posts to sustain TREAT-NMD and accelerate clinical trials including the TACT (TREAT-NMD Advisory Committee for Therapeutics) Coordinator post. Through the DMD Hub and DMD-coordinator post DuchenneUK are collaborating with the wider neuromuscular community as part of TREAT-NMD. They are committed to address capacity issues and challenges with delivering DMD clinical trials.
Emily is the co-founder and joint CEO of Duchenne UK. Emily set up the Duchenne Children’s Trust in 2012 after her son was diagnosed with Duchenne. Before that she was a reporter and anchor for Channel 4 News and CNN International. The Duchenne Children's Trust raised £3.5million in its first three years, to spend on clinical trials, research, and clinical trial infrastructure. The charity set up the annual Duchenne Dash, which brings in money for research and raises awareness around Duchenne muscular dystrophy. Emily has advocated on behalf of patients around the world. She's spoken many times in the Houses of Parliament. She is a member of the MHRA patient group consultative forum and in November 2017 was honoured by the Prime Minister's office with the Points of Light award. The award recognises outstanding individual volunteers, who are making a change in their community and inspiring others. Emily would bring her professionalism, drive, determination and vision as key attributes to the Executive Committee.
Jon
Hastie
DMD Pathfinders
We have recently become a member organisation, however in the past we were very involved with Sunil Rodgers' work, including the CARE-NMD survey, DMD roundtable and Newcastle meetings.
We believe that we would be an asset to the executive committee as we represent a patient group that is often excluded from direct participation in organisations working in the neuromuscular field, often being represented by parents instead. Our insight into the needs of adults with DMD is unparalleled, and we have extensive experience of patient engagement and a good understanding of what works and what doesn't. We believe we could bring fresh ideas and perspectives into how patients can best be engaged with the work of Treat-NMD. As I personally have an academic background, with a PhD in Government, as well as extensive experience of working in both disability organisations and in politics, with a strong focus on user engagement activity, I believe I can provide an effective bridge between the academic and patient perspective. I recognise the importance of scientific rigour, robust assessment processes and management of conflict of interests, yet I also recognise what it is like to be an NMD patient and the importance of patients being at the centre of care and support. I currently work as a lived experience adviser on the Personalised Care Strategic Coproduction Group at NHS England, so have a good link into current healthcare developments as well as a proven ability to operate at a strategic level. The only drawback is my limited ability to travel across Europe, I hope that this will not preclude me from this position in this era of communications technology!
Laura
Rufibach
Jain Foundation
I only recently became a member of Treat-NMD, but I have been aware of and interacting with the Treat-NMD for quite a while. The Treat-NMD provides desperately needed resources and works to accelerate the identification and implementation of treatments for NMDs. The main Treat-NMD areas I have interacted with are patient registries and biobanks. In 2011, the Jain Foundation, the organization that I work for, developed the International Dysferlinopathy Registry (IDR). The IDR is currently listed on the Treat-NMD registry page, but we are merging the IDR with a more interactive registry called the Dysferlin Registry and are interacting with the TG-DOC to align this new registry with many of the principles of a Treat-NMD registry. In addition, the Jain Foundation is housing the biological samples from its International Clinical Outcome Study for Dysferlinopathy (COS) in the Eurobiobank in Newcastle where they are available to researchers worldwide. There are numerous other Treat-NMD areas I would like to get involved with. These include the development of outcome measures, care guidelines, and the European reference networks. The validated COS outcomes measures and data from the MRI analysis of COS should be included in the Treat-NMD databases. Our renewal of COS is planning to address standards of care for dysferlinopathy and I’d like to be a resource for the reference networks and work to develop something similar in the US. I am excited about becoming more involved with Treat-NMD and work together to bring therapies to patients as quickly as possible.
I would be excited and honored to become a member of the TREAT-NMD Executive Committee. I have a PhD in Genetics and have worked on numerous NMDs in both academic and advocacy settings. Since 2007, I have worked for the Jain Foundation, whose focus is LGMD2B/Miyoshi, and am currently the Co-President. I also serve on the Scientific Advisory Committee of the Neuromuscular Disease Foundation and the SAB of Myonexus, a LGMD gene therapy company. Throughout my career, I have researched the pathophysiology of disease, have led the development of diagnostic and clinical outcome programs, and identified and tested possible therapies for various NMDs. 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 believe that my strong scientific training, extensive knowledge of neuromuscular diseases, experience in academia, industry, and advocacy, as well as my dedication to advocating for the patient perspective makes me an excellent candidate for the patient representative position. My background uniquely qualifies me to work effectively with all the other members of the committee to reach our common goal of bringing new therapies to patients as quickly and 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 I would appreciate your vote.
Vanina
Sanchez
Familias A.M.E. Argentina
Our Association joined Treat-NMD in 2012, we provide information and support to families with patients with spinal muscular atrophy, we train medical professionals and therapists, and we also carry out research that leads to the cure or effective treatment of this disease. We have provided patient information to add to the Treat-NMD database in collaboration with Garrahan Hospital in Buenos Aires
Our candidate has an adequate professional training, is proactive, speaks English and Spanish, with experience in the handling of international relations. His current role at FAME Argentina is to be in permanent contact with laboratories, research centers, institutions similar to ours, Attention and Ministries of the national State, has the capacity to coordinate efforts and generate synergy between the parties
Denica
Velkovska
STOP SMA Skopje, Macedonia
We are new organisation in Macedonia oficialy,but we have involvment in several parents/patients support organisations for a long time,representing NMD patients and advocating for their rights.It's always a challenge to get involved in organisation on broader level and put our forces together.
I can contribute with my experience as a parent of SMA child,patients representative and fighter for 10 years. I'm part of several online patient's support groups,transferring the experience in my country that is with lack of knowledge for NMD in general.Our families rely on e for a very important changes that I try and achieve to make in our system and society.It would be my honor to be a part of TreatNMD Executive Committee.
Tara
Voogel
Neuromuscular Disease Foundation/GNE Myopathy International
I am a Program Manager and a Certified Patient Advocate for the Neuromuscular Disease I embrace all cultures and can listen with empathy. I read, write, and speak English; and I Foundation. I have participated in clinical trials, patient registries, and been a patient advocate for understand and speaks Hindi, Spanish, and Dutch. the past seven years. Currently, I write a blog about my disease and reach out to GNE-Myopathy patients, families, and doctors worldwide. I have co-founded GNE Myopathy International. For more, please refer to my blog: http://taratalksgnemyopathy.blogspot.com/
Elizabeth
Vroom
World Duchenne Organisation
Elizabeth Vroom is currently the chair of the project ethics counsel (PEC) of TREAT-NMD and has been a PEC member since its foundation in 2007. She has been involved in developing the performance upper limb (PUL) scale and the accompanying patient reported outcome measure scale both by funding this endeavour and by actively participating as a patient representative. She has been involved in TREAT-NMD organized stakeholder meetings with regulatory agencies, academics, industry and patient representatives and has co-authored several of the resulting meeting reports. She was involved in generating the original and updated standard of care guidelines for Duchenne, as well as in translating this into the corresponding family guides and in generating the imperatives for Duchenne. She was a presenter at the most recent international TREAT-NMD meeting. Finally, Duchenne Parent Project NL has funded posts at the TREATNMD secretariat for a liaison with Duchenne organisations and for coordinating the Duchenne patient registries and yearly funds research projects and workshops around the globe.
Elizabeth Vroom is mother of a 27 year old son with Duchenne, orthodontist by training, and founder of Duchenne Parent Project Netherlands and co-founder and chair of the World Duchenne Organisation (previously United Parent Project Muscular Dystrophy). She took the initiative to start World Duchenne Awareness Day in 2014. World Duchenne Organisation is an eligible organisation at the European Medicines Agency. At a personal level she is patient expert at EMA. Her initiatives also lead, besides activities around development of treatments for DMD, to the development of an (upper limb) exoskeletonproject for Duchenne and diseases with similar challenges. At a national level she was a member of the dutch Health Counsel (advisory board to the minister of health) and the advisory committee to change the law regarding clinical trials in a pediatric population. She is involved in several activities of Eurordis (the European Organisation for Rare Diseases) including the activities around European harmonisation of HTA. She participates in several EU funded projects, such as Asterix, Adapt Smart, Vision-DMD and Share4Rare. As a member of the TREAT-NMD Alliance Executive committee she would like to enhance the collaboration, interaction and communication about the different activities set up by TREAT-NMD and by NMD patient organisations.
