Background
The spinocerebellar ataxias (SCAs) are a group of autosomal dominantly inherited progressive ataxia disorders. More than 40 genetically different SCAs have been defined that mostly follow the nomenclature of SCA followed by a number, except DRPLA. The most common – SCA1, SCA2, SCA3 and SCA6, which together affect more than half of all families with a history of SCA – are caused by translated CAG repeat expansion mutations that code for an elongated polyglutamine tract within the respective proteins. Other SCAs are caused by non-repeat or by non-translated repeat mutations that affect a variety of different genes.
SCAs have a worldwide distribution, however with variable prevalence rates reported across the world. Despite the large heterogeneity of the various SCAs, people with SCA and their families are facing similar problems. Once started, ataxia takes a relentlessly progressive course leading to disability and often premature death. Ataxia is frequently accompanied by non-ataxia symptoms which considerably impact quality of life. Currently, there is no cure for any SCA. In fact, there are not even symptomatic medical treatments so that management of SCA patients has to rely on physical and speech therapy.
The need for a global initiative
Although a number of large longitudinal cohort studies, such as EUROSCA, RISCA, SPATAX or CRC-SCA provided valuable information on the disease characteristics and natural history of the common polyglutamine SCAs, there remain major knowledge gaps that preclude further progress towards development of effective therapies. Specifically, it is not known whether the longitudinal clinical data that have been obtained in European and North American cohorts are representative for patients from other world regions. Furthermore, the clinical characteristics of the less prevalent SCAs caused by non-repeat mutations remain largely undefined. There is also insufficient knowledge how the diseases impact on everyday life of affected people and their families. A major obstacle on the way towards successful therapeutic trials is the lack of validated biomarkers. The few biomarker studies that have been completed focussed on imaging and included only small patient numbers. Biochemical markers that will be of critical importance in future trials are completely lacking.
Currently, many clinical investigators worldwide are addressing these issues, but due to a lack of a common research infrastructure, clinical research in SCAs often remains fragmented. The JPND-funded ESMI and the NIH-U01 projects are first examples of international collaboration, and may thus serve as a starting point for more intense, global collaboration.
To deal with these multiple challenges, we present the concept of SCA Global, a worldwide initiative for clinical research in SCAs. SCA Global is conceived as a flexible and open research platform, with which we wish to pursue the following goals:
- To better understand the manifestation, evolution and impact of the various SCAs
- To develop and validate biomarkers which can be used in future interventional trials
- To facilitate access to people with SCAs who are willing to participate in clinical trials
Harmonization and standardization
As there are many researchers worldwide who are collecting data and materials of SCAs, but do not collaborate, there is an urgent need to define a common clinical assessment program, a standard imaging protocol and standards for biomaterial sampling and storage. The leading clinical investigators worldwide as well as ataxia lay organizations need to be involved in the standardization process. The goal will be to achieve the highest possible level of conformity and standardization but, on the other hand, to ensure continuity, wherever possible, to allow joint analysis of existing and newly acquired data.
Database
Ideally, the core resource of SCA Global would be a worldwide registry of SCA patients and family members that enables collection of standardized longitudinal clinical data, provides information about available imaging data and biomaterials, and allows to identify patients who are willing to participate in trials.
In the framework of the ESMI project, the SCA Registry has been established, a secure web-based data capture system and database which was developed by 2mt Software GmbH (Ulm, Germany). The SCA Registry contains all data of the EUROSCA and RISCA studies as well as of the ongoing ESMI project. Currently, we are importing data from the CRC-SCA study and the international SPATAX database. The SCA Registry was devised with the intention to make it available to clinical investigators worldwide. It can be accessed through the internet, is easy to use, and encompasses the entire spectrum of SCAs.
Although, the existing SCA Registry will be an extremely valuable resource of SCA Global, use of this database is not a requirement for participation in SCA Global. If investigators are using functional and secure own databases, they will have the opportunity to continue their own database, provided that they follow the agreed common protocols and are willing to share data.
SCA Global around the world
Patient advocacy organisations who have expressed an interest in taking part
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Institutions who have expressed an interest in taking part
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Africa | Zambia | University of Zambia |
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Asia | China | Second Affiliated Hospital, Zhejiang University School of Medicine |
Asia | China | Xiangya Hospital, Central South University |
Asia | India | CSIR Institute of Genomics and Integrative Biology |
Asia | Israel | Israeli MJD Association |
Asia | Japan | Tokyo Medical and Dental University |
Asia | Japan | University of Tokyo |
Asia | Malaysia | Hospital Canselor Tuanku Muhriz |
Asia | Malaysia | Universiti Kebangsaan Malaysia Medical Center |
Asia | Pakistan | Government College University |
Asia | Taiwan | national yang-ming university |
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Australia/Oceania | Australia | Alfred Hospital, Melbourne |
Australia/Oceania | New Zealand | Auckland City Hospital |
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Europe | Austria | Medical University Innsbruck |
Europe | Czech Republic | Centre of Hereditary Ataxias, Motol University Hospital |
Europe | France | CHU Hautepierre |
Europe | France | University Hospital of Strasbourg |
Europe | France | Sorbonne University |
Europe | France | Pitie Salpetriere Hospital |
Europe | Germany | University Hospital Essen, University of Duisburg-Essen |
Europe | Germany | German Center for Neurodegenerative Diseases (DZNE) |
Europe | Germany | University Hospital Heidelberg |
Europe | Germany | University Hospital Schleswig-Holstein (UKSH), Campus Lübeck |
Europe | Germany | University Hospital of Tuebingen |
Europe | Germany | University Hospital Düsseldorf |
Europe | Germany | Center for Neurology & Hertie Institute for Clinical Brain Research |
Europe | Germany | RWTH Aachen University |
Europe | Germany | Goethe University |
Europe | Germany | University Hospital Düsseldorf |
Europe | Germany | Dresden University Medical Center |
Europe | Germany | University Hospital Bonn |
Europe | Hungary | University of Pécs |
Europe | Hungary | Semmelweis University |
Europe | Italy | Bambino Gesù Children’s Hospital, IRCCS |
Europe | Italy | Federico II University |
Europe | Italy | IRCCS-Foundation Neurological Institute Carlo Besta |
Europe | Italy | Città della Salute e della Scienza University |
Europe | Italy | Institute of Translational Pharmacology (IFT) |
Europe | Italy | University of Brescia |
Europe | Italy | Sapienza Rome University |
Europe | Netherlands | Radboud University Medical Centre |
Europe | Netherlands | University Medical Centre Groningen |
Europe | Poland | Institute of Psychiatry and Neurology Warsaw |
Europe | Portugal | IBMC, University of Porto |
Europe | Portugal | Santo António Hospital, Centro Hospitalar de Porto |
Europe | Portugal | University of Coimbra |
Europe | Portugal | University of Minho, Braga |
Europe | Romania | University of Medicine and Pharmacy “Victor Babes” |
Europe | Spain | Hospital Clinic of Barcelona |
Europe | Spain | Vall d’Hebron University Hospital, Barcelona |
Europe | Spain | Basurto University Hospital, Bilbao |
Europe | Spain | University Hospital Marqués de Valdecilla, Santander |
Europe | Sweden | Karolinska University Hospital Huddinge |
Europe | UK | UCL Institute of Neurology, London |
Europe | UK | Essex Centre for Neurological Sciences, Romford |
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North America | Canada | Montreal Neurological Institute, McGill University |
North America | Canada | CHU de Québec – Université Laval |
North America | Mexico | Instituto Nacional de Neurologia y Neurocirugia Manuel Velasco Suarez |
North America | USA | Albany Medical Center |
North America | USA | Johns Hopskins University |
North America | USA | Triplet Therapeutics, Cambridge |
North America | USA | Feinberg School of Medicine, Northwestern University |
North America | USA | Ohio State University Wexner Medical Center |
North America | USA | University of Florida College of Medicine |
North America | USA | Houston Methodist Hospital |
North America | USA | UCLA Medical Center |
North America | USA | Wesley Neurology Clinic |
North America | USA | National Ataxia Foundation (NAF) |
North America | USA | University of Minnesota |
North America | USA | Columbia University Medical Center |
North America | USA | Columbia University |
North America | USA | Icahn School of Medicine, Mount Sinai |
North America | USA | Creighton University/CHI Health Immanuel |
North America | USA | University of Pennsylvania |
North America | USA | University of Washington |
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South America | Brasil | University of Campinas (UNICAMP) |
South America | Brasil | Universidade Federal do Ceará, Fortaleza |
South America | Brasil | Universidade Federal do Rio Grande do Sul, Porto Alegre |
South America | Brasil | Abahe-Brazilian Association of Hereditary Ataxias (Associacao Brasileira de Ataxias Hereditarias), Sao Paulo |
South America | Brasil | Federal University of Sao Paulo – Escola Paulista de Medicina |
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SCA Global Steering Committee
On 2 April 2018, the inauguration meeting of the SCA Global initiative was held in Philadelphia. The attendants of the meeting in Philadelphia suggested to form a provisional steering committee that will define and plan the next steps in establishing SCA Global.
Members of the committee include:
- T. Ashizawa (USA),
- A. Durr (Paris),
- L. Jardim (Brasil),
- T. Klockgether (Germany)
- Bin-Weng Soong (Taiwan),
- D. Szmulewicz (Australia)
Tetsuo Ashizawa

Alexandra Durr

Laura Jardim

Thomas Klockgether

Bin-Weng Soong

David Szmulewicz

J. Greenfield (Ataxia UK, Euro-ataxia) and S. Hagen (NAF) will represent patient organisations.
Julie Greenfield

Sue Hagen

H. Graessner (Germany) will act as secretary.
Holm Graessner
