International SBMA Project (KDA)

Overview

This project aims at: connecting the existing registries and databases across different countries by comparing the information collected, the administered scales, the biochemical investigations performed; performing a common analysis of fully anonymized data collected in the existing registries and databases by researchers adhering to the study to obtain cross-sectional and longitudinal data. Centres from the following countries have accepted the invitation to join Italy in this project: UK, US, Japan, France, Germany, Korea, Finland, Greece, Canada, Turkey.

Several groups have collected important data over the years on different national series of SBMA affected subjects in national databases and registries. Such data on hundreds of patients represent an invaluable collection of information that can be pooled together to gain broad knowledge of the disease. Both baseline and follow up data have been collected, thus potentially allowing either a cross-sectional analysis and a longitudinal study on disease progression. Therefore, we propose a retrospective study collating together data from the different populations into a very large international series. Such study would allow a better understanding of the clinical and laboratory characteristics of the disease, a comparison of the disease across different countries, and an analysis of the evolution of the disease according to the different outcome measures along the years. In the preliminary study preparation, we have collected the adhesion of centres from UK, US, Japan, France, Korea, Germany, Finland, Greece, Canada and Turkey. We have also compared the information that every centre collects. We have subsequently prepared a list of items (clinical history, milestones, symptoms and signs, laboratory data) to be filled by each centre with the help of the coordinating centre in Milan and sent back to Milan for centralized analysis. Anonymized data will be shared by the participating centres with the Milan coordinating centre. In the data analyses, we will focus on SBMA clinical and laboratory characteristics, disease course over time, responsiveness of outcome measures, differences and similarities between populations. Based on the updated adhesions to the current project, we will be able to collect and analyze data on about 700 SBMA patients overall, in a both cross-sectional and longitudinal retrospective study. Such project, with the largest SBMA cohort ever analyzed, will result in an increased knowledge on the characteristics and phenotype of the disease. It will improve clinical trial readiness and will be useful for future clinical trials. Collaborators for this project are the following: Azienda Ospedale-Università di Padova (Dr Sorarù); Centro clinico NEMO Adulti, Roma (Dr Amelia Conte/Dr Mario Sabatelli); MRC Centre for Neuromuscular Disease UCL Institute of Neurology, London (Dr Pietro Fratta); Department of Neurology, Kyungpook National University Chilgok Hospital Daegu, Republic of Korea (Dr Jin-Sung Park); Hôpital Pitié-Salpêtrière, Paris, France (Dr Pierre-François Pradat, Giorgia Querin); Inherited Neuromuscolar Diseases Unit, Bethesda MD, USA (Christopher Grunseich, Dr Kenneth Fischbeck); Nagoya University Graduate School of Medicine, Department of Neurology, Nagoya Japan (Dr. Masahisa Katsuno); Department of Neurodegenerative Diseases and Gerontopsychiatry, University of Bonn, Germany (Dr Patrick Weydt); Neuromuscular Research Center, Tampere University, Finland (Dr Manu Jokela and Johanna Palmio); Neurogenetics Unit, Department of Neurology, National and Kapodistrian University of Athens, Greece (Dr Georgios Koutsis); Hotchkiss Brain Institute, Department of Clinical Neurosciences, University of Calgary, Alberta, Canada (Dr Gerald Pfeffer); Department of Neurology, Istanbul Faculty of Medicine, Turkey (Dr Yesim Parman and Arman Cakar).