Resources

Roundtable discussion on the urgent need to include SMA in newborn screening programmes across Europe

26/03/2021
Description:

Agenda

  1. Welcome and introduction by SMA Europe
  2. Opening remarks by Mr. Cyrus Engerer, Member of European Parliament, Malta
  3. Roundtable participants will discuss the importance of newborn screening for SMA:
    • Dr. Stelios Kympouropoulos, Member of European Parliament, Greece
    • Mrs. Marie-Christine Ouillade, Chair of SMA NBS Alliance Steering Committee, SMA Europe, AFM Telethon
    • Ms. Jana Popova, patient advocate with EAMDA, European Patients Forum
    • Professor Eduardo Tizzano, Head of Pediatrics and Director Department of Clinical and Molecular Genetics, Hospital Universitari Vall d’Hebron
  4. Video message from Ms. Claudia Gamon, Member of European Parliament, Austria

 

The event was moderated by Dr. Andreas Reimann, Co-founder and managing partner, admedicum

Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy

22/03/2021
Description:

Following the 2017 approval of a first SMA treatment by the European Medicines Agency, SMA Europe launched a Europe-wide survey with the goal of understanding patients’ treatment expectations, realities of daily living and access to clinical trials and therapy and how this varied according to parameters such as age and disease severity.

A response rate of 31% yielded 1474 completed surveys from 26 European countries. In line with findings from a 2015 SMA Europe-led survey, participants considered stabilisation of their condition to be progress. Notably, responses indicated that the current classification of SMA at diagnosis by ‘type’, often does not reflect current mobility level. Large gaps in treatment access were identified that varied in particular between age and disease severity groups, yet there was high interest in clinical trial participation. In addition, alternative treatment options, including combination therapies, are now expectations.

These perspectives should be central considerations through the research and development processes of new SMA therapies, through data generation and discussions on access to therapies. Results from this survey indicate that collaboration between stakeholders is essential to the foundation upon which innovative approaches for SMA treatments and access can be explored.

Authors: Nicole Gusset, Caroline Stalens, Eva Stumpe, Lori Klouvi, Alexandre Méjat, Marie-Christine Ouillade and Mencía de Lemus

Link: Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy

A Decision for Life – Treatment decisions in newly diagnosed families with spinal muscular atrophy (SMA)

22/01/2021
Description:

European neuromuscular experts presented eleven consensus statements covering qualification, patient selection, safety considerations and long-term monitoring, in order to aid the rational use of Zolgensma™ for the treatment of SMA (Kirschner, et al., 2020). In response to this consensus statement, a group of patient representatives from SMA Europe highlight considerations that must be taken into account when considering treatment.

Authors: N. Gusset, Y. Erbas, O. Germanenko, K. Rucinski, E. Stumpe and M. de Lemus.

Journal: Neuromuscular Disorders

Link: 10.1016/j.ejpn.2020.11.003

FIREFISH trial of risdiplam – Lay summary

18/01/2021
Description:

This document provides a summary of the 12-month results of Parts 1 and 2 of the FIREFISH study. The study started in December 2016 and met its key endpoints in November 2019, when the last baby to take part had completed 12 months of treatment with risdiplam, the drug being investigated in this study. The study will continue up to 5 years after the last baby has enrolled in the study.

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