Core Dataset for Spinal Muscular Atrophy (SMA)

Please read the important notes below before viewing the dataset documents:

1. The dataset is intended for all registries collecting data on SMA (clinician/patient/dual reported), however some items are only relevant for certain types of registry and are marked accordingly.
2. Personal identifying information on patients will never be requested by a TREAT-NMD enquiry. This is included in the dataset as recommended best practise but would be for registries’ internal use only.
3. The dataset is split into ‘mandatory’ and ‘highly encouraged’ items. TREAT-NMD registries are required to include all relevant mandatory items in their data collection forms.
4. TREAT-NMD strives to be an inclusive network. If there are any mandatory items that registries are not easily able to implement, they are encouraged to identify their support needs, and/or a plan to work towards their inclusion, and discuss with us.
5. This is a minimum standard dataset only; many registries choose to collect additional items of local interest or relevance.

Dataset documents

• SMA Dataset v1
• SMA Dataset v1 Manual
• SMA Dataset v1 High Level Overview

This SMA Outcome Measure (OM) Library has been developed as a quick-reference tool to help patient registries in the TREAT-NMD Network choose and implement the right OMs for their patients. However this is an open resource and may also prove useful to other organisations or individuals with an interest in OMs relevant to SMA.

To comply with the TREAT-NMD Core SMA Dataset, all clinician-reported registries should collect a minimum of one validated motor measure for each SMA patient. In addition, all registries are encouraged to collect a validated patient-reported outcome measure (PROM) of their choosing. The OMs listed in the core dataset should not be viewed as restrictive; registries may collect alternative validated OMs if they wish.

We encourage independent decision-making in this area, as the best OM for any given patient can depend on many factors. Clinicians/registries should check for national or local guidelines, review the information available in this library and elsewhere, and use their own professional judgement to identify measures which will (a) pick up meaningful change in their patient cohorts and (b) be feasible for their registry to collect.

The Library contains the following information (where available) for each OM:

• Type of OM (Motor or PROM)
• Suitable age range / level of function
• Available languages
• Terms of use
• Link to scales
• Link to manual
• Training required
• Average time needed per patient
• Equipment needed
• 2 Key references
• Notes or further information

The OM Library is a working document and will be updated as needed, so please always check this web page for the most up-to-date version. If you know of a validated OM for SMA which is missing, or if you can contribute some information, please contact the SMA Dataset Project Manager Jo Bullivant (joanne.bullivant@newcastle.ac.uk).

Download the SMA Outcome Measure Library v1

Please note the OM Library is protected against editing. If you would like access to filter/sort the information, please contact us.

Feedback: If you would like to provide feedback on the SMA Outcome Measure Library, please complete this form.

You may also find the following resources from other groups helpful:

• Toolkit 3: Best Practices for Physical Therapists and Clinical Evaluators in SMA (from Cure SMA)

For patient-reported registries (and for the patient-reported elements of dual-reported registries), we have prepared some suggested patient-friendly wording for relevant data items.

Please read the important notes below before viewing the document:

1. This document does not contain the full dataset – only those sections/items which are relevant for collecting patient-reported data.
2. This document should therefore be viewed in the context of the full dataset to see the ‘original’ text for each data item.
3. We do not intend to mandate that registries must use this wording; rather it is recommended for use in English language registries, and also as a basis for translations into other languages.

Document

• Core SMA Dataset v1 Suggested wording for patient-reported data items

Version 1 (current version) of the Core SMA Dataset was open for consultation until Friday 27th March 2020 as part of the first formal revision process. The original plan was for Version 2 to be released in draft for consultation in May 2020, and confirmed/published at the end of June 2020.

PLEASE NOTE: Due to the unexpected volume of feedback received (over 650 comments), and the challenging working conditions due to COVID-19, it is not possible to achieve the timeline originally planned for this revision.

Version 2 documents will be circulated in draft for the second stakeholder review as soon as they are ready. You can always find the latest updates and documents on this web page. If you can’t find the information you are looking for here please email Joanna Das (SMA Dataset Project Coordinator) or Jo Bullivant (SMA Dataset Project Manager).

For more information about the revision process, please watch this 10 Minute Briefing Presentation (click [cc] icon for subtitles).

The presentation slides are also available below, however you are strongly encouraged to watch the video to benefit from the explanations and additional context given in the commentary.

Please note: consultation on the version 1 documents closed on Friday 27th March 2020.

Documents and Links

• 10 Minute Briefing Presentation (video with subtitles available)
• 10 Minute Briefing Slides (although we recommend to watch the presentation video if possible)
• Feedback Log: list of all feedback received on version 1 (between Sept 2018 and 13 March 2020)
• Core SMA Dataset Revision Process: full process document

We are running 3 annual dataset workshops (2019, 2020 and 2021)  to support TGDOC registries with implementing and collecting the expanded core SMA dataset.

SMA Dataset Implementation: Workshop 2 (2020)

The SMA Dataset Workshop will be online this year, and will comprise a series of short recorded sessions instead of a full day workshop. Dates will be confirmed as soon as possible but we are aiming for October 2020.

SMA Dataset Implementation: Workshop 1 (2019)

The year 1 SMA Dataset Implementation Workshop took place on Friday 13 December 2019 (the day after the annual TGDOC Curators’ Meeting) at Leiden University in the Netherlands. The meeting report and speaker slides are available here:

• SMA Dataset Implementation: Workshop 1 report
• SMA Dataset Implementation: Workshop 1 speaker slides

SMA Dataset Pilot: Workshop 2 (2018)

The objective of Pilot Workshop 2 was to bring together the 12 Pilot Registries and review all feedback collected; from both the Pilot Group and other relevant initiatives. The intended outputs were to generate final recommendations on the content and structure of the Expanded SMA Dataset, and to inform the 3-year Implementation Plan.

• SMA Dataset Pilot: Workshop 2 Report

SMA Dataset Pilot: Workshop 1 (2017)

The purpose of Pilot Workshop 1 was to update stakeholders on the current SMA landscape and coordinate a global approach to the dataset review/expansion by gathering input, building consensus on the main issues, and producing a set of recommendations and agreed next steps.

• SMA Dataset Pilot: Workshop 1 Report

During the first SMA Dataset Workshop (December 2019, Leiden, Netherlands), participants suggested it would be helpful to have a shared repository where Curators can upload their blank data collections forms / case report forms, for other Curators to view.

This will mean that registries who have not yet implemented the expanded dataset (or who are working on implementing it) can see how other registries are collecting it, and learn from them where relevant.

We have therefore set up a TREAT-NMD SMA Registries file sharing folder in Google Drive. Anyone with this link can upload or download documents so please do not share anything of a sensitive or confidential nature.

Important notes

• PLEASE DO NOT UPLOAD ANY PATIENT DATA. This folder is for blank data collection forms only.
• If you are uploading your data collection form, please give it a clear name, such as “Registry name SMA data collection form”

Before September 2018, the previous SMA Core Dataset was in place since March 2014:

• Original SMA Core Dataset (March 2014 to August 2018)

This project is funded by Biogen. The deliverables are:

1. Expanded dataset collected by all active TREAT-NMD SMA Registries.
2. Dataset manual: data dictionary, wording for patient-reported registries, outcome measure toolkits, and standardised text for consent etc.
3. Financial bursaries and 3 x annual workshops to support registry curators with implementation.
4. Formal revision process to gather stakeholder feedback, harmonise with other initiatives and support continuous improvement.

Biogen do not receive any data as a result of funding this work.

Core Project Team

Project Manager: Jo Bullivant has managed this project since shortly after the first pilot workshop in May 2017, and is also a Registry Curator herself, in a different disease area.

Project Co-ordinator: Joanna Das has been working on the project since November 2019 and supports Jo with the day to day running of the project.

Subject Matter Experts

Supporting the core project team with their expert guidance we have:

TGDOC SMA Subgroup Co-Lead: Dr Victoria Hodgkinson is the National Program Manager for the Canadian Neuromuscular Disease Registry, where she oversees the scientific management and coordination of national patient registries in neuromuscular disease. Her work involves management of the registry network, development and review of registry datasets, and research project design and scientific analyses. She is actively engaged in global collaborative projects to share data for common purposes, and improve registry design and utility worldwide.

TGDOC SMA Subgroup Co-Lead: Miriam Rodrigues is a genetic counsellor whose dedication to rare neuromuscular disorders began when she was appointed Membership Services Manager at the Muscular Dystrophy Association of New Zealand (MDA NZ) in 2006. She is the Coordinator of the New Zealand Neuromuscular Disease Registry and Neuromuscular Disease Research Associate at Auckland District Health Board.

IT consultant: Marcel Heidemann is an IT consultant and software developer who has been involved with neuromuscular registries since 2008. He developed the patient registry platform for the LMU Munich hospital which is now used for 12 neuromuscular registries based in Munich and Newcastle. Marcel holds a Master’s degree from LMU Munich in philosophy, biology and political science.

Consultant Research Physiotherapist: Dr Anna Mayhew is a Consultant Research Physiotherapist at The John Walton Muscular Dystrophy Research Centre at Newcastle University, UK. She has a special interest in development of robust and clinically relevant functional outcome measures for all types of neuromuscular disorders as well as suitable patient reported outcome measures. Anna is involved in training clinical evaluators for clinical trials both in DMD and SMA and in the ongoing development of clinically relevant measures for use in neuromuscular trials.