Resources

SUNFISH 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 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.

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244th ENMC International Workshop: Newborn Screening in Spinal Muscular Atrophy

15/05/2020
Description:

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.

The resulting publication is available here.

SMA Type 1 care guidelines – by country

02/01/2019
Description:

SMA Type 1 care guidelinesThe Netherlands

A new guideline which stipulates what the optimal care for children with SMA type 1 is with the arrival of new, disease-inhibiting medicines, has been published by Dutch neurologists.

 

Poland

Poland also has a guide, written by Chiara Mastella and translated from Italian into Polish.

What to expect from a lumbar puncture – video

20/06/2018
Description:

The department of Paediatric Neurology and Muscle Diseases at Freiburg University Medical Centre has produced this video to explain lumbar punctures to children, young people and their parents. It is hoped that it will provide them with peace of mind. The video may be used as a supplement to the explanations and preparations by the treating physician.

A lumbar puncture, also called spinal tap, is a medical test. It may be applied to children and young people in order to diagnose diseases of the nervous system or to give a medication (such as Spinraza™).

You can listen to the video in:

 

New treatments for spinal muscular atrophy open-up new challenges for European & national institutions

02/05/2018
Description:

SMA Europe discusses how new treatments for spinal muscular atrophy open up new challenges for European and national institutions

Authors: Marie-Christine Ouillade & Alexandre Méjat.

 

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