PaLaDIn partner, the FSHD Society, held its annual International Research Congress on Facioscapulohumeral Dystrophy (FSHD) in Amsterdam from June 12th to 13th 2025. The congress provided an opportunity for individuals living with FSHD, clinicians, researchers, basic scientists, and pharmaceutical industry leaders to present and discuss new developments, reinforce collaborative efforts, facilitate new initiatives, and coordinate research and clinical activities related to FSHD.
During the congress, PaLaDIn clinical lead Benedikt Schoser presented a poster and gave a ‘spotlight’ presentation on the work conducted in PaLaDIn to develop the FSHD-SUM (Summarized Unified Measure). FSHD-SUM is a new, concise, multi-domain Patient-Reported Outcome Measure (PROM). PROMs are tools used to collect information directly from patients about their symptoms, health status, and quality of life. These measures help evaluate the effectiveness of treatments and understand how diseases affect patients’ daily lives.
Work on the FSHD-SUM is currently in progress and will integrate combined elements from PROMs including FSHD RODS, FSHD-HI2, PROMIS, SF-36, UEFI, and FDI. It is designed to assess functional capacity and perceived impact across core domains that are relevant to individuals with FSHD. The proposed 15-item assessment offers efficiency with a 5-minute administration, comprehensive domain coverage including facial function, a complementary approach for specialized needs, and research-standardized potential for data aggregation across studies. The Rasch-based development ensures interval-level measurement properties, enabling the interpretation of meaningful change scores and superior statistical analysis capabilities. Further work will be carried out including in-depth validation of the Rasch-built score. Additionally, correlations to the existing FSHD PROMs need to be carried out.
To view this work-in-progress poster, ‘FSHD-SUM (Summarized Unified Measure) PROM – should we pursue this?’, click here .
