TREAT-NMD Standard NMD Dataset

Introduction

The purpose of the sNMD (standard neuromuscular disease) dataset is to harmonise the items common to all disease-specific TREAT-NMD datasets, and to define items to be collected in disease areas for which no disease-specific TREAT-NMD datasets exist. It applies to the following registries:

• Disease-specific registries which have not (yet) adopted a full disease-specific TREAT-NMD dataset
• Registries collecting data on disease areas for which no disease-specific TREAT-NMD dataset exists (yet)
• Registries which cover many neuromuscular diseases
• Registries collecting data on individuals with undiagnosed neuromuscular disorders

Patient population

In terms of the patient population, the sNMD dataset applies to:

• Individuals with a genetically confirmed diagnosis of a neuromuscular disorder
• Carriers of a recessive neuromuscular disorder
• Individuals with a clinical diagnosis of an acquired neuromuscular disorder
• Individuals with neuromuscular symptoms, but no established diagnosis

The sNMD dataset does not apply to individuals who neither have neuromuscular symptoms nor have a genetically confirmed diagnosis or carrier status (for example, family members who are considered at risk of having a genetic disorder or being carriers of a recessive disorder, but who have not undergone genetic testing).

Disease areas without a specific TREAT-NMD dataset

All registries collecting data on individuals in these areas should collect all items defined in the sNMD dataset. This includes both disease-specific and general NMD registries.

TREAT-NMD enquiries related to these disease areas will be based on the sNMD dataset items and the formal structure outlined here.

Future disease-specific TREAT-NND datasets will be aligned with the sNMD dataset.

Disease areas with specific TREAT-NMD datasets

The sNMD dataset may also support registries collecting data in disease areas for which a full TREAT-NMD dataset already exists, e.g. SMA, DMD or LGMD. Whenever a registry does not (yet) collect all items in the full dataset, it should at least collect all items in the sNMD dataset. This again applies to both disease-specific as well as general NMD registries.

TREAT-NMD enquiries based on a full disease-specific dataset will, as far as possible, allow the participation of registries collecting only the sNMD dataset items. This also means that in disease areas for which a full TREAT-NMD dataset is developed in the future, a registry based on the sNMD dataset should be able to use the data collected before the implementation of the new full dataset.

Formal differences between datasets

Due to differences in the disease areas, but also for historical reasons, items contained in the sNMD and in disease-specific datasets may be formally defined in different ways, despite being semantically equivalent. For example, the item SMA type in the SMA dataset and the item Diagnosis in the sNMD dataset are roughly equivalent in the context of an SMA population, since there exist ORPHAcodes for each SMA type, so that a value of one item can be straightforwardly mapped to the other item. A disease-specific enquiry will, if possible, allow submission of data using either formal definition. Any submitted patient-level data can be mapped by TREAT-NMD as required.

Nonetheless, a disease-specific registry (or a general NMD registry with disease-specific modifications) implementing the sNMD dataset as a proxy or “stepping stone” to the full disease-specific dataset should implement the common items as they are defined in the disease-specific dataset wherever possible.

Although future disease-specific TREAT-NMD datasets should cover all sNMD dataset items, the equivalence may not be formally strict. Since it is expected that most use cases will be based on the disease-specific datasets, it is more important that these are concise, consistent and relevant, than it is to strictly adhere to the formal definitions in the sNMD dataset.