Journal article
279th ENMC International Workshop: Classification, clinical care, outcome measures and biomarkers in childhood onset facioscapulohumeral dystrophy: towards standardizing clinical care and ensuring clinical trial readiness. Hoofddorp, The Netherlands, 1-3 November 2024
Neuromuscular disorders : NMD, Vol.55, 106236
10/2025
DOI: 10.1016/j.nmd.2025.106236
PMID: 41100957
Abstract
The 279th ENMC workshop on childhood-onset facioscapulohumeral dystrophy (FSHD) was held on November 1–3, 2024. The workshop aimed to standardize classification based on disease severity, address implications for clinical trials and patient access, and improve clinical management of children and adolescents with FSHD. Key priorities included establishing a working party to address knowledge gaps in clinical management and outcome measures, defining a standardized minimal dataset in both research and clinical environments, and enhancing pharmaceutical engagement. Childhood-onset FSHD presents a spectrum, from early-onset progressive cases to later adolescent onset with a classical phenotype. Standardized care, including psychological support and transition planning, is needed. Challenges in trial design, such as disease heterogeneity and ethical considerations, were highlighted. Consensus that childhood-onset FSHD forms part of a disease continuum was reached. Two task forces were established to define minimal outcome measure datasets and paediatric-specific care guidelines, marking a crucial step toward improved clinical care and trial readiness.
Details
- Title: Subtitle
- 279th ENMC International Workshop: Classification, clinical care, outcome measures and biomarkers in childhood onset facioscapulohumeral dystrophy: towards standardizing clinical care and ensuring clinical trial readiness. Hoofddorp, The Netherlands, 1-3 November 2024
- Creators
- Jildou N. Dijkstra - Radboud University NijmegenBettina C. Henzi - University of BernKatherine D. Mathews - University of IowaCorrie E. Erasmus - Radboud University NijmegenRenatta Knox - Washington University in St. LouisTracey Willis - Robert Jones and Agnes Hunt Orthopaedic HospitalKaty de Valle - Murdoch Children's Research Institute
- Resource Type
- Journal article
- Publication Details
- Neuromuscular disorders : NMD, Vol.55, 106236
- DOI
- 10.1016/j.nmd.2025.106236
- PMID
- 41100957
- NLM abbreviation
- Neuromuscul Disord
- ISSN
- 0960-8966
- eISSN
- 1873-2364
- Publisher
- PERGAMON-ELSEVIER SCIENCE LTD
- Grant note
- FSHD SocietyFSHD GlobalAvidity BiosciencesEpicrispr biotechnologiesFulcrum TherapeuticsKate Therapeutics
This workshop was supported by FSHD Society, FSHD Global, Avidity Biosciences, Epicrispr biotechnologies, Fulcrum Therapeutics and Kate Therapeutics.
- Language
- English
- Date published
- 10/2025
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9985014894502771
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