Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients

Location: Virtual Zoom Meeting

Title: 254th ENMC International Workshop: Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients

Date: 28 January, 29 January, 30 January 2022

Organisers: Prof. Pascal Laforêt (France), Prof. Elena Pegoraro (Italy), Prof. Ludo van der Pol (The Netherlands) and Prof. Maggie Walter (Germany).

Translations of this lay report:
German by Prof. Maggie Walter
Polnish by Prof. Anna Kostera-Pruszczyk
Italian by Prof. Elena Pegoraro
Greek by Dr Constantinos Papadopoulos
French by Piera Smeriglio
Dutch by Dr Bart Bartels

Participants: Shahram Attarian (France), Bart Bartels (The Netherlands), Kristl Claeys (Belgium), Ana Ferreiro (France), Nathalie Goemans (Belgium), Ksenija Gorni (Switzerland), Nicole Gusset (Switzerland), Tim Hagenacker (Germany), Victoria Hodgkinson (Canada), Jan Kirschner (Germany), Andrea Klein (Switzerland), Anna Kostera-Pruszczyk (Poland), Hanns Lochmueller (Canada), Chiara Marini Bettolo (UK), Eugenio Mercuri (Italy), Robert Muni-Lofra (UK), David Orlikowski (France), Laetitia Ouilade (France), Constantinos Papadopoulos (Greece), Helene Prigent (France), Ros Quinlivan (UK), Emmanuelle Salort-Campana (France), Valeria Sansone (Italy), Piera Smeriglio (France), Rivka Smit (The Netherlands), Simone Thiele (Germany), Ben Tichler (Switzerland), Peter van den Bergh (Belgium), John Vissing (Denmark), Juan Vázquez (Spain).
29 clinical researchers from 12 different countries (Belgium, Canada, Denmark, France, Germany, Greece, Italy, Netherlands, Poland, Spain, Switzerland, UK), 2 SMA patients, one representative of a patient advocacy group and 2 industry representatives from Biogen and Roche met for a virtual workshop in the weekend of 28-30 January 2022. The Workshop aimed at the formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. This workshop was supported by the 10 ENMC partner organisations.

Worldwide, data collections and registries, such as TREAT-NMD patient registries, iSMAC and SMArtCARE have been implemented as important tools to get more insight in the natural history of SMA in treatment-naïve patients, especially at older ages, and patients treated with DMT. The documentation in SMA registries enable systematic development of a database for further development of the novel treatment paradigm. Relevant aspects of current and future SMA therapy, real-world evidence, mode of application, biomarkers, start and stop treatment criteria, transition from pediatric to adult care, management of expectations, patient and industry perspective, regulatory and practical issues throughout Europe and Canada, and follow-up assessments along with patient registries, ERN and TREAT-NMD initiatives were discussed with international experts.

For harmonizing registries and data collections, participants will fill a form where common denominators will be identified; the group also agreed on a realistic phenotype-related minimal dataset for patient follow-up, with different tests for non-sitters, sitters and walkers, along with a consensus draft protocol for monitoring treatment safety and efficacy.
Additionally, specific recommendations for the transition of SMA patients from pediatric to adult care were discussed. The group agreed on the need of a follow-up workshop on adult guidelines and development of standards of care, future activities of the consortium such as access to treatment across Europe, implementation of new outcome measures and patient reported outcomes, and an European data collection.

A full report will be published in Neuromuscular Disorders.
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