215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands

TY - JOUR

T1 - 215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands

AU - Evangelista, Teresinha

AU - Weihl, Conrad C.

AU - Kimonis, Virginia

AU - Lochmüller, Hanns

AU - Clemen, Christoph

AU - Deshaies, Ray

AU - Evangelista, Teresinha

AU - Eymard, Bruno

AU - Greensmith, Linda

AU - Hilton-Jones, David

AU - Kimonis, Virginia

AU - Kley, Rudy

AU - Lochmüller, Hanns

AU - Meyer, Hemmo

AU - Mozaffar, Tahseen

AU - Noguchi, Satoru

AU - Ralston, Stuart

AU - Ridha, Basil

AU - Udd, Bjarne

AU - Weihl, Conrad

AU - Brumhard, Matthias

AU - Brumhard, Sarah

N1 - Funding Information: In a session devoted to the discussion on coordinated clinical research, Teresinha Evangelista has shown two examples of ongoing International collaborations for the setup of Natural History (NH) studies and Disease specific Registries. The chosen examples were the GNE myopathy and the Dysferlinopathies NH studies. The former was supported by the industry and the latter set in place by the Jain Foundation. The GNE myopathy-Disease Monitoring program (GNEM-DMP) was established through a partnership between academia (TREAT-NMD) and industry (Ultragenyx). The GNEM-DMP involves a patient reported Registry and a Natural history study with data collected from clinical and physiotherapy assessments. The data originating from both sources form a united data set that allows a comprehensive understanding of the disease. This type of combined data sets will help in planning future clinical trials and can be used as baseline data. The GNE programme is intended to be in place for up to 15 years. The Jain Foundation together with Newcastle University and collaborators worldwide established the International Clinical Outcome Study for Dysferlinopathy (COS). This Natural History study involves medical and physiotherapy assessments and muscle MRI/MRS for 3 years. The study aims to define the natural history in a large unselected patient group, evaluate possible outcome measures for future trials, extend the existing registry activities co-ordinated by the Jain Foundation (the International Dysferlinopathy Registry) and establish and disseminate standards of diagnosis and care for dysferlinopathy. To date 193 patients (ambulant and non-ambulant) have been recruited worldwide. In conclusion, several well-developed models can be used to establish both a registry and a NH study. There is a need to think about how to fund these initiatives and other structures needed to underpin research including biobanks (concept of trial readiness). Funding Information: This workshop was made possible with the financial support of the European Neuromuscular Centre (ENMC) and its main sponsors: Muskelsvindfonden (Denmark), Association Française contre les Myopathies (France), Deutsche Gesellschaft für Muskelkranke (Germany), Telethon Foundation (Italy), Schweizerische Stiftung für die Erforschung der Muskelkrankheiten (Switzerland), Prinses Beatrix Spierfondonds (The Netherlands), Spierziekten Nederland (The Netherlands), Muscular Dystrophy UK (UK) and the Finnish Neuromuscular Association (Finland).

PY - 2016/8/1

Y1 - 2016/8/1

UR - http://www.scopus.com/inward/record.url?scp=84991020842&partnerID=8YFLogxK

U2 - 10.1016/j.nmd.2016.05.017

DO - 10.1016/j.nmd.2016.05.017

M3 - Article

C2 - 27312024

AN - SCOPUS:84991020842

VL - 26

SP - 535

EP - 547

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 8

ER -