Core Dataset for Spinal Muscular Atrophy (SMA)

Please read the important notes below before viewing the dataset:

1. Version 2 looks very different to version 1, because most of the significant changes from this revision relate to the presentation and description of the dataset. The content of the dataset (i.e. the data we would like registries to collect) has not been drastically altered. Please take time read the dataset introduction which is essential to support understanding of this new way of presenting the dataset.
2. The dataset is intended for all registries collecting data on individuals with SMA (clinician/patient/dual reported). However, not all items are mandatory for all registries and are marked as such.
3. In the context of this dataset, a mandatory data item means that the designated registries must include it in their data collection forms and be able to store and provide the data; even if the data is not always available for all individuals.
4. Personal identifying information on patients will never be requested or accepted as part of a data submission to TREAT-NMD.
5. This is a minimum core dataset only; many registries choose to collect additional items of local interest or relevance.
6. 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.

TREAT-NMD SMA Core Dataset v2 can be browsed online or downloaded here: sma.treat-nmd.org 

Note: the following v1 documents have all been combined into one master dataset specification in v2:

• Core SMA Dataset
• Core SMA Dataset High Level Overview
• Core SMA Dataset Manual*
• Core SMA Dataset Patient-Reported Wording

* Certain elements of the v1 manual did not sit within a core dataset specification (for example, standardised text for use in consent forms), so in v2 they are provided in an accompanying guidance manual which will be available here shortly.

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)

In version 1, we provided a separate dataset document containing suggested patient-friendly wording for relevant data items, for patient-reported registries (and for the patient-reported elements of dual-reported registries).

In version 2, this element has been combined into the master dataset specification and can be viewed in the ‘Example forms’.

Formal consultation on version 1 has now closed and version 2 has been released. A high level summary of the most notable v1 to v2 changes will be provided here as soon as possible.

The date for the next formal revision will be confirmed in due course.

We are always happy to receive feedback and suggestions on the current version of the dataset. For specific items, or groups of items, this can be submitted via the online dataset specification (see above, in section ‘SMA Core Dataset’). If your comment is more general please contact the project team (contact details in section ‘Meet the Team’).

Documents and Links

• V1 Feedback Log: list of all feedback received on version 1 (between Sept 2018 and 13 March 2020)

SMA Dataset Implementation: Workshop 2 (2020)

The SMA Dataset Workshop 2020 will be online, and will provide a detailed introduction to version 2 of the SMA Core Dataset. The aim is to support TGDOC Curators in the implementation of the dataset, and there will be time set aside for questions and discussion. The same workshop will run twice; Tue 27 Oct at 18:00-21:00 GMT, and Fri 30 Oct at 11:00-14:00 GMT (and will be recorded), to increase the opportunity for all to attend. TGDOC Curators can register for the session of your choice here.

SMA Dataset Implementation: Welcome to Year 2 (2020)

This online meeting took place on Thursday 13 August 2020 and was for registries taking part in year 2 of the SMA Core Dataset implementation project.  The purpose of the meeting was to officially welcome the year 2 registries, introduce them to the project team and each other, give an overview of the requirements and support available, and address any early questions.

• SMA Dataset Implementation: Year 2 Welcome Meeting slides

SMA Dataset Implementation: Dataset 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”

• v1 SMA Core Dataset (September 2018 to October 2020)
  • SMA Core Dataset v1
  • SMA Core Dataset High Level Overview v1
  • SMA Core Dataset Manual v1
  • SMA Core Dataset Patient Reported Wording v1
• v0 SMA Core Dataset (March 2014 to September 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.