This information booklet is the first of three and has been written for healthcare professionals wishing to ready their centre for running or expanding clinical trials in SMA.
Authors: Marija Krstic and Vanessa Christie-Brown
Download: Spinal muscular atrophy: pathology, diagnosis, clinical presentation, therapeutic strategies and treatments
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
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.
This document provides a summary of the 12-month results of Parts 1 and 2 of the SUNFISH study. The study started in October 2016 and met its key endpoints in September 2019, when the last person 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 patient has enrolled in the study. This document has been written for members of the public, as well as the patients and families participating in the study.
Clinicians, newborn screening specialists, economists, geneticists, patients and patient advocates, and industry representatives from 12 countries convened in The Netherlands for an international workshop on newborn screening (NBS) for spinal muscular atrophy.
The aim of this workshop was to synthetise the available information on NBS technical, ethical, economical and practical aspects, and to identify the gap in current knowledge of patients identification and communication of diagnosis and treatment following NBS.