Spinal Muscular Atrophy (SMA) Core Dataset

Please read the notes before viewing the dataset:

1. Take time to read the dataset introduction; it is essential to understand how to implement the dataset in your registry.
2. The dataset is for all registries collecting data on individuals with SMA (clinician/patient/dual reported). However, not all items are mandatory for all registries.
3. A mandatory data item in the core dataset means that 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 nor accepted as part of a data submission to TREAT-NMD.
5. This is a minimum core dataset; registries may collect additional items of local interest or relevance.
6. TREAT-NMD is an inclusive network. If registries are not able to implement any mandatory items, they are encouraged to identify support needs, and/or a plan to work towards their inclusion, and discuss with us.

TREAT-NMD SMA Core Dataset v2 (dataset specification)

TREAT-NMD SMA Core Dataset v2 Appendix (guidance outside core dataset specification; for example suggested text for consent and ethics)

The SMA Outcome Measure (OM) Library is a quick-reference tool to help patient registries in the TREAT-NMD Network choose the right OMs for their patients. This is an open resource and may prove useful to other organisations or individuals.

To comply with the TREAT-NMD SMA Core Dataset, clinician-reported registries must collect at least one validated motor measure for each SMA patient. In addition, all registries are encouraged to collect a validated patient-reported outcome measure (PROM). 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 because the best measure for an individual depends on many factors. Clinicians/registries should check national or local guidelines, review this library and other information available, and use professional judgement to identify measures which (a) will pick up meaningful change in their patient cohorts and (b) are 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 current version.

Download the SMA Outcome Measure Library v1

The document is protected against editing; please contact us if you would like access to filter/sort the information.

You can provide feedback, suggest an addition, or contribute missing information via the SMA Outcome Measure Library Feedback Form.

You may also find these resources helpful:

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

We welcome feedback on the SMA Core Dataset. Feedback on specific items or groups of items can be submitted via the online dataset specification (link above, in section ‘SMA Core Dataset’). More general comments should be emailed to the project team (contact details in section ‘Meet the Team’).

During 2020 we asked stakeholders for feedback on version 1 of the SMA Core Dataset, to help inform our work on Version 2 (now current). The amount and quality of feedback was extraordinary, and we were (as always) struck by how lucky we are to work with such an engaged and proactive community. It is never possible to implement all suggestions; some are judged outside the scope of a core dataset, some are flagged for consideration in future revisions, and others represent opposing viewpoints so a decision must be made about which to apply. In all cases, final decisions are made by the leads of our TGDOC SMA Subgroup and the TGDOC Chairs.

Version 2 includes notes throughout (in green boxes) to describe changes from version 1. Each v2 item is also labelled with the related v1 item number, or marked as deprecated if removed.

Patient centricity can be defined as ‘Putting the patient first in an open and sustained engagement of the patient to respectfully and compassionately achieve the best experience and outcome for that person and their family’. (Yeoman et al., 2017)

In the context of our SMA Core Dataset we interpret patient centricity to mean; are we including data that is meaningful and important to patients, and are we managing (as far as possible) the burden placed on them by data collection?

In 2021 we will be reviewing our current approach of maintaining one dataset for all registries (patient-reported or clinician-reported), and considering the advantages and risks of developing a separate dataset for patient-reported registries. In addition, we will review the patient-centricity of the clinician-reported data, and look more closely at evaluating and integrating appropriate patient-reported outcome measures. These important conversations were initiated by feedback gratefully received from the SMA Europe Registries and PROMS Working Group, with whom we are working closely. If any other groups or individuals would like to be involved, we would like to hear from you.

SMA Core Dataset Year 2 Workshop 2 (27 and 30 October 2020, online)

This workshop provided a detailed introduction to version 2 of the SMA Core Dataset, to support TGDOC Curators with implementation.

• SMA Core Dataset Year 2 Workshop Report
• SMA Core Dataset Year 2 Workshop Speaker Slides

SMA Core Dataset Year 2 Welcome Meeting (13 August 2020, online)

This meeting welcomed registries taking part in year 2 of the SMA Core Dataset implementation project, introduced them to the project team and each other, gave an overview of the requirements and support available, and addressed any early questions.

• SMA Dataset Implementation: Year 2 Welcome Meeting slides

SMA Core Dataset Year 1 Workshop (13 December 2019, Leiden University, Netherlands)

• SMA Core Dataset Year 1 Workshop Report
• SMA Core Dataset Year 1 Workshop Speaker Slides

SMA Core Dataset Pilot Workshop 2 (2018)

This workshop brought together the 12 Pilot Registries to review feedback from the Pilot Study and other relevant initiatives. The outputs were final recommendations on the content and structure of the expanded SMA Core Dataset, and the 3-year Implementation Plan.

• SMA Core Dataset Pilot Workshop 2 Report

SMA Core Dataset Pilot Workshop 1 (2017)

This workshop updated stakeholders on the current SMA landscape and coordinated a global approach to the core dataset expansion by gathering input, building consensus, and producing recommendations.

• SMA Core Dataset Pilot Workshop 1 Report

To support sharing of best practice we have created a shared repository where registry curators can upload their blank data collection forms for other curators to view.

The repository is in Google Drive. Anyone with this link can upload or download documents so please do not share anything sensitive or confidential.

Shared Data Collection Forms

Important notes

• PLEASE DO NOT UPLOAD PATIENT DATA. This folder is for blank data collection forms only.
• When uploading a data collection form, please give it a clear name such as “UK SMA Registry 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.