FSHD is on the threshold of therapeutic clinical trials, with interest in FSHD from several pharmaceutical industries and a few trials currently underway in the USA and Europe. In order to offer the FSHD patient community in Europe the best position in discussions with clinical and basic science researchers and with pharma, FSHD Europe helped to organise the first FSHD European Trial Network online workshop on 23rd April and 7th May 2021 with the following aims:
- Establish the foundation of a European FSHD Trial Network (ETN)
- Harmonise criteria for clinical and genetic diagnosis, for registries and outcome measures
- Create exchange of clinical experience and genetic reference material
- Bring Europe on a par with the USA in trial-readiness for FSHD
FSHD Europe has taken this initiative to support collaboration to achieve trial readiness based on current FSHD research in Europe.
The new ETN have continued with different working groups on Clinical Outcome Measures, Clinical and Genetic Diagnosis, Biomarkers and Imaging, resulting in two workshops that took place inHoofddorp, The Netherlands:
- April 22-24, 2022, the 265th ENMC International Workshop entitled “Muscle Imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials”
- From September 30 to October 2, 2022, the 268th ENMC International Workshop entitled “Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials”
One of the goals of the Genetic Diagnosis working group was to publish on the FSHD Europe website a list of European reference centres for FSHD genetic testing, centres of expertise in FSHD molecular diagnosis. It is hoped that this will improve the accessibility of genetic testing throughout Europe and allow other centres to contact them.
If you have any questions or need more infos feel free to contact Pilar Camaño