Forename
Surname
Institution/Organisation name
Virginia
ArechavalaGomeza
Biocruces Health Research Insitute
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)
Dr Arechavala-Gomeza (@VArechavala , PhD in Neurology, Kings College London) is the head of Neuromuscular Disorders Research Group at IIS Biocruces in Spain (www.arechavalalab.com). In her previous roles at University College London and Imperial College London she participated in the development of eteplirsen for DMD (1, 2). She is particularly interested in the development of standardised biochemical outcome measures and she has developed several novel methods to quantify dystrophin and other proteins to aid in the faster development of new treatments (3-5).
Virginia is also a pharmacist and she is passionate about transferring her research into the clinic, therefore she is aware of the urgent necessity to collaborate to pursue this goal. She has been a member of TREAT-NMD from its early days and was an active member of COST action “Networking towards clinical application of antisense-mediated exon skipping”. As part of these networks she has hosted several research workshops, collaborated in the drafting of several manuscripts highlighting stakeholder collaboration in the developments of new treatments for neuromuscular disorders(6, 7) and regularly speaks at patients’ events.
1. Cirak S, Arechavala-Gomeza V, Guglieri M, Feng L, Torelli S, Anthony K, et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet. 2011;378(9791):595-605. 2. Kinali M, Arechavala-Gomeza V, Feng L, Cirak S, Hunt D, Adkin C, et al. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol. 2009;8(10):918-28. 3. Ruiz-Del-Yerro E, Garcia-Jimenez I, Mamchaoui K, Arechavala-Gomeza V. Myoblots: dystrophin quantification by in-cell western assay for a streamlined development of Duchenne muscular dystrophy (DMD) treatments. Neuropathol Appl Neurobiol. 2017. 4. Arechavala-Gomeza V, Kinali M, Feng L, Guglieri M, Edge G, Main M, et al. Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. Neuromuscul Disord. 2010;20(5):295-301. 5. Arechavala-Gomeza V, Kinali M, Feng L, Brown SC, Sewry C, Morgan JE, et al. Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression. Neuropathol Appl Neurobiol. 2010;36(4):265-74.
6. Straub V, Balabanov P, Bushby K, Ensini M, Goemans N, De Luca A, et al. Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy. Lancet Neurol. 2016;15(8):882-90. 7. Godfrey C, Desviat LR, Smedsrød B, Piétri‐Rouxel F, Denti MA, Disterer P, et al. Delivery is key: lessons learnt from developing splice‐switching antisense therapies. EMBO Molecular Medicine. 2017:e201607199.
Kristl
Claeys
University Hospitals Leuven and University of Leuven (KU Leuven), Leuven, Belgium
I am a member of the Treat-NMD Alliance Neuromuscular Network since 2012 and I am involved in The Care and Trial Site Registry (CTSR) of Treat-NMD since 2013. From 2013 until the end of 2015 I have participated in the CTSR when I was working as a neurologist/neuromuscular specialist at the University Hospital RWTH Aachen, Aachen, Germany, and from the beginning of 2016 until presently I am participating in the CTSR from my position as a neurologist/neuromuscular specialist at the University Hospitals Leuven, Leuven, Belgium. Furthermore, since 2016 I am a Board member of the European Reference Network for rare neuromuscular diseases (ERN-NMD).
As a neurologist with specific expertise and many years of experience in neuromuscular diseases, and working in a national neuromuscular reference center and in an academic setting, I have a very good view on both clinical care and needs of the patients, as well as on the clinical trials and translational research in neuromuscular disorders. I am a Board member of the European Reference Network for rare neuromuscular diseases (ERN-NMD). Both clinically and in my research I am cooperating with many collaborators, both national and international, which resulted in a large number of important publications in the field of neuromuscular disorders. As an executive committee member of the Treat-NMD Alliance I would like to promote and contribute in advancing diagnosis, care and treatment for people with neuromuscular diseases around the world.
Peter
Claus
Hannover Medical School, Hannover, Germany
Peter is Associate Professor and Principal Investigator of an active preclinical research group at the Institute of Neuroanatomy and Cell Biology at the Hannover Medical School in Hannover, Germany. He has a particular interest in cross-disease analyses of neuromuscular disorders and translational aspects. His main research topics are molecular and cellular mechanisms of motoneuron diseases SMA and ALS (especially cytoskeletal dysregulation, signaling pathways, non-motoneuron related symptoms of SMA and preclinical drug testing). He is member and consultant of national Scientific Advisory Boards of SMA patient advocacy groups and speaker at patient advocacy meetings. On a national and international level, he is scientific reviewer for funding agencies and institutional reviews.
Working in the field of neuromuscular disorders for over fifteen years, Peter has developed a strong interest in advancing the public attention of this group of diseases. Besides scientific activities and supporting patient advocacy groups, he aims to initiate novel scientific networking activities bridging the gap between preclinical and clinical research: Currently, he pursues to establish a new network (SMATHERIA) for funding of rare neurodegenerative diseases in children (together with Prof. Jan Kirschner, Freiburg and the Deutsche Muskelstiftung, a patient advocacy organization). This is supported by several parliamentary contacts on the national level and should be extended to international EU-wide activities. Peter also pursues to establish a training network for EU-wide education of the next generation of experts in neuromuscular diseases (especially SMA) in children.
Rasha
El Sherif
MYOCARE Clinic cairo
Rasha El Sherif MD, Consultant of Neuromuscular disorders
I noticed that we do not have in the executive committee a member from Africa and I will be honoured to be the one.
I had been working with TREAT-NMD since 2013 as TGDOC member and registry curator for the Egyptian Neuromuscular Registry where around 1000 patients from Egypt, and some Arabic and African countries are registered. Since then, I attended all TGDOC meetings. I participated with TREAT-NMD global registries as a co-author in 2 manuscripts, the first one was a DMD paper entitled "Clinical outcomes in Duchenne Muscular Dystrophy: a study of 5345 patients", and another on myotonic dystrophy "A global review of Myotonic Dystrophy (DM) Registries" In 2016 I was invited to present an update on the Egyptian registry during the TGDOC meeting in Belgium.
For the past 20 years I had been working in the genetic diagnosis and clinical management of muscle disease patients in Egypt. After graduation of medical school, Ain Shams University, I worked as research fellow in the National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan where I studied the molecular diagnosis of muscular disorders. This experience led me to establish the first Neurogenetics Lab for the diagnosis of neuromuscular disorders in Ain Shams University for which I was awarded Ain Shams University Prize in 2006. I completed my Doctorate degree thesis in Neurology “Dystrophin gene analysis for identification of DMD/BMD carrier status in Egyptian symptomatic and asymptomatic females” in 2008. Now I work as Director of Muscle Unit in Neuromed Centre and MYO-CARE Clinic I see monthly more than 80 muscle disease patients for diagnosis and follow-up from all-over Egypt and different Arabic and African countries, aiming for patient diagnosis and to stablish the standards of care for muscle disease among patients in the region and raise awareness about muscle disease around doctors and care givers. I coordinated medical convoys to different cities in Egypt: Aswan, Minia and Menoufia to help in diagnosing muscle disease patients and raise awareness for the importance of applying the standards of care. Also, I worked with the Egyptian muscular dystrophy patient society for the patient’s rights through meetings with the health committee in the Egyptian parliament.
Abdallah
Fayssoil
Raymond Poincare hospital and Myology Institute
Research in cardiology in the neuromuscular field
- cardiac disease management in muscular dystrophy - echocardiography - diaphragmatic echography
Veronika
Karcagi
Istenhegyi Genetic Diagnostic Centre
As the hungarian curator of SMA and DMD registries I nominate Veronika Karcagi. She acts as TGDOC member. She organized TREAT-NMD in Hungary from the begining. She was the curator of SMA and DMD registries in Hungary from 2007 to 2015. From 2015 she helps the current curator's work.
From the begining she organizes the hungarian TREAT- and CARE-NMD. She has good connection not only with the academic field but the civil forums also. She emphasizes the communication is these two fields. She has good connection with the surrounding countries geneticists and neurologists also. She organizes every year congresses, lectures for parents. She is also member of several hungarian genetical and neurological societies. She frequently makes lectures from novel genetic backround of neuromuscular diseases. She is known between hungarian pediatric and adult neurologist as the neuromuscular geneticist. I nominate Veronika Karcagi who established the hungarian part of the TREAt NMD consortium. Beatrix Pálmafy MD, curator of the hungarian SMA, DMD registries 13th febr. 2018.
Merrilee
Needham
Fiona Stanley Hospital, IIID Murdoch University, Until now, I've been a consumer of TREAT-NMD, closely following the work in DMD, LGMD and Notre Dame University SMA clinical trials and outcome measures. I also direct patients to their website. I love the collaborative approach TREAT-NMD takes. I'm passionate about treating patients with NMD's (both genetic and acquired) and would love to be involved in the development of standards of care, clinical trials, outcome measures, raising money for research and future directions.
Terence
Partridge
Children's National Medical Center
Up to now, I have joined TREAT-NMD twice but have not taken any active part in the organization I have a long experience in the conduct of preclinical research into Duchenne muscular dystrophy apart from participating in the meeting in London on the initiation of clinical trials of exon-skipping. and am interested in trying to improve the flow of preclinical research into well justified clinical trials. My research group in London first identified the mdx mouse as a myopathy, established the notion of myoblast transplantation and demonstrated the practical possibility of exon-skipping in the dystrophin gene. I feel that much of the cause of failure of translation from preclinical to clinical application, arises from technical or interpretative deficiencies in the pre-clinical work, and this is the area I understand well enough to be of better than average use.
Maggie
Walter
Friedrich-Baur-Institute, Ludwig-MaximiliansUniversity of Munich, Germany
I am working as Associate Professor of Neurology at the Friedrich-Baur-Institute, the neuromuscular department of the Ludwig-Maximilians-University of Munich in leading position. I am involved in TREAT-NMD from the very start of the network, with MD-NET being the German partner of TREAT-NMD. My main research interests are neuromuscular diseases, mainly muscular dystrophies, myofibrillar myopathies, inflammatory myopathies, spinal muscular atrophy, CMT neuropathies, and clinical trials in neuromuscular patients. I am coordinator of the German Muscular Dystrophy Network (MD-NET), funded by the Federal Ministry of Education and Research (BMBF) since 2003, co-coordinator of the German Charcot-Marie-Tooth Network (CMT-NET), BMBF funded since 2016. Since 1997, I am member of the Scientific Advisory Board of the Muscular Dystrophy Association of Germany (DGM), and responsible for the German patient registries, the DMD, SMA, CMT, IBM, PAM/MFM and FSHD registry (www.treatnmd.eu), and together with Volker Straub for the German part of the international FKRP registry. In terms of basic research, I am part of a molecular animal breeding research group, we have developed a large animal model for Duchenne, the DMDpig.
Since I have broad experience in networking (Treat-NMD from the very start, TACT (Treat NMD AdBoard for Therapeutics) member, German MD-NET and CMT-NET, patient registries, longstanding member of the TREAT-NMD Taskforce) and translational research, I think I could add value to the Executive Committee with my experience and motivation. I am closely collaborating with the German patient organizations (DGM e.V., aktion Duchenne/benni&co, Initiative SMA, among others) and actively contributing to ENMC meetings, with participation to 10 international workshops over the last 15 years. I still do a lot of clinical work, and have a true understanding of patient journey and unmet need, along with broad experience in clinical trials. Thank you for your consideration, I would be very honored to join the Executive Committee.
Shiwen
Wu
The General Hospital of Chinese Armed Police Forces
I am the curator of DMD registry from the General Hospital of Chinese Armed Police Forces in China. Our database, The Chinese Genetic Disease Registry (CGDR) is a China-wide registry of people diagnosed with a genetic disease, especially for DMD/BMD and SMA. There are more than 1,000 patients registered in our database, which makes it the largest DMD database in China. I was once invited to the TREAT-NMD annual curator’s conference to give a speech about DMD registry in China. In 2017, I was again invited to the TREAT-NMD TGDOC conference and the curator’s conference to learn about the latest genetic therapies and communicate with other curators from around the world.
I am nominating myself to be a candidate for the Executive Committee. First of all, I am the very first neurologist in China who started multi-disciplinary clinic which has been providing service since 2013. More than 300 DMD patients come to the multi-disciplinary clinic every year. Secondly, I established the Chinese Genetic Disease Registry (CGDR), which is the largest DMD patient database in China. More than 1400 people registered, of which around 1,000 are confirmed DMD patients. Thirdly, I work closely with one of the patient’s family organizations – Duchenne ZHIAI- to communicate with DMD patients and their families. These experiences gives me a perspective of what DMD patients’ daily lives are like and what difficulties they are faced with. Besides, the aim of cooperating with patients’ families is to raise the awareness of DMD and other genetic diseases, and to promote the development of the society.
I am a neuromuscular neurologist passionate about treating patients the best I can, and providing hope for them. I have 4 neuromuscular clinics per week, and am establishing a research team focussed around the care of myositis. For NMD's, the collaborative approach is the only approach that will be time-efficient and effective to establish standards of care and clinical trials because of the relative rarity of diseases. TREAT-NMD is an amazing collaboration of physicians, carers and patients which facilitates translational research into these disorders, as well as clinically-applicable standards of care. I would love and feel honoured to be a part of such an initiative.
