An updated international standard of care скачать в хорошем качестве

An updated international standard of care

Prof. dr. Nicol Voermans MD PhD, Neurologist Radboud university medical centre – Medical advisor FSHD Europe & European Trial Network Chair Nicol Voermans is a distinguished neurologist specializing in euromuscular disorders at Radboud University Medical Center (Radboudumc) in Nijmegen, Netherlands. Since joining Radboudumc as a medical specialist in 2008, she has focused on congenital myopathies and FSHD. Her research emphasizes genotype-phenotype correlations, trial readiness, natural history of rare inherited myopathies, patients’ experiences in trials, and the development of optimal symptomatic treatments. She has a special interest in (exertional) rhabdomyolysis. She has collaborated with esteemed researchers, including Prof. Jungbluth in London and Prof. Treves in Basel. In 2021, she launched the FSHD European Trial Network, uniting researchers and clinicians across Europe to advance FSHD research and clinical trials. In recognition of her significant contributions, she was appointed Professor of Muscular Diseases at Radboudumc, effective October 1, 2023. Prof. Voermans‘s dedication to bridging the gap between neuromuscular research and clinical practice continues to enhance the understanding and treatment of rare genetic muscle disorders. Raj Badiani, Patient Representatives/Co-Authors 30+ FSHD Clinicians, Researchers – on FSHD International Standards of Care FSHD UK Founded in 2021 by Rajeshri Badiani, an FSHD patient herself, FSHD UK was established with a clear mission: to accelerate clinical trials and improve care for people living with Facioscapulohumeral Muscular Dystrophy (FSHD) in the UK. Through the development of a strong, multi-stakeholder collaborative network, FSHD UK has grown significantly with eight clinical sites. In 2023, FSHD UK became a registered charity. Three major clinical trials (one of which has since stopped globally) and two natural history studies are active in the UK, FSHD UK is proud to be part of several key international collaborations, including the FSHD World Alliance, FSHD Europe, and the Project Mercury Task Force — ensuring UK patients have a voice on the global stage. Rajeshri Badiani/ Mitsuru Honda (FSHD Japan and FSHD research scientist) served as patient representatives/coauthors in this landmark project- The International Standard of Care for FSHD, alongside over 30+ medical and research professional. This work is vital in establishing much-needed guidelines that will shape the future of FSHD care worldwide “It has been our honor to participate in this work — which is vital for the FSHD community everywhere.