The TREAT-NMD fascioscapulohumeral muscular dystrophy dataset serves as a vital resource for patient registries, facilitating the collection of comprehensive longitudinal data that captures the natural history of FSHD and informs the establishment of care standards. This dataset is designed to accommodate all registries collecting data on individuals with FSHD, including those reported by clinicians, patients, or through dual reporting.
Mandatory data items within the core dataset are essential components that registries must include in their data collection forms. This ensures the capability to store and provide the data, regardless of its availability for all individuals. While this represents a minimum core dataset, registries have the flexibility to collect additional items that align with their local interests or relevance.
The latest version (v2.0) of the TREAT-NMD FSHD core dataset was developed to respond to recommendations from an ENMC workshop on FSHD data collection. The dataset includes:
46 unique data items
44 mandatory items for clinician-reported registries
44 mandatory items for patient-reported registries
Version 2 of the FSHD core dataset is available online.
Version 1 of the dataset has now been superseded by Version 2, but can be viewed here for information only.
Version 2 of the dataset was released in November 2021 and incorporated suggestions from the 225th ENMC Workshop held in Heemskerk, the Netherlands (2016 ENMC Workshop Report). A diverse group of 22 participants, including clinicians, researchers, patient advocates, and industry representatives from 11 different countries, convened to establish a global FSHD registry framework. The workshop’s central aim was to create a comprehensive dataset that could facilitate research and clinical trials for FSHD. Key processes involved analysing existing FSHD patient registries, refining the TREAT-NMD recommended dataset for FSHD, and fostering collaboration among research groups and patient advocacy organisations. The participants discussed diagnostic criteria, patient-reported outcomes, and genetic testing methods, ultimately refining the core dataset for international FSHD registries.
The dataset’s development was driven by the need for precise diagnosis, active patient involvement, and collaborative efforts among stakeholders, all geared toward supporting ongoing research and clinical trials in the field of FSHD.
If you have further questions about the FSHD dataset or any questions regarding the implementation, please contact the registries team.
Registry Team Members
Neil Bennett
Global Registries Manager
Neil is an experienced science communicator; in the neuromuscular disease area, he has worked at Act...
Annie Poll
Research Communications Lead, TREAT-NMD
Annie trained in several academic research laboratories at Newcastle University before taking on pos...
Farjana Ali
Datasets and Global Registries Platform Coordinator
Samantha Barker
Registry Network Administrator
Samantha (or Sammy) joined TREAT-NMD in July 2023. She has a background in administration and scienc...