Under the guidance of Professor Benedikt Schoser from the Friedrich-Baur-Institut, Department of Neurology, Ludwig-Maximilians-Universität München, TREAT-NMD, the FSHD Society, and Leiden University Medical Center are working to update the TREAT-NMD registry datasets for Myotonic Dystrophy Type 1 (DM1) and Facioscapulohumeral Muscular Dystrophy (FSHD). The datasets currently in use were developed several years ago and are no longer fully aligned with the new landscape of emerging therapies in DM1 and FSHD.
As part of the PaLaDIn, consortium partners are conducting a multistakeholder, harmonized Delphi process to update both datasets by incorporating Human Phenotype Ontology (HPO) terminology and, for functional outcome measures, standard operating procedures (SOPs). This will enable global registries to collect clinically focused data that reflects advances in natural history data collection and therapeutic developments. The PaLaDIn Interactium® (a global, patient-centric data platform) will collect comprehensive patient data on health status and experiences, therefore we will ensure that the updated datasets includes patient-reported outcome measures (PROMs) to empower patients and improve healthcare outcomes.
This work is being carried out using the TREAT-NMD consensus model, which involves clinicians, patient organizations, industry, and registries. Introductory workshops were held in November and December 2025, and additional workshops with registries will take place at the TREAT-NMD Annual Curators Meeting in Lisbon in February 2026. The definition of these datasets will be finalized by mid-2026 and will set the framework for the updated TREAT-NMD registries datasets. With this, the TREAT-NMDNMD network can begin testing and adopting the updated datasets in mid-2026. A fully scientific report will be delivered by mid-2026.
