DOI: 10.1177/22143602261493651 ISSN: 2214-3599

An international patient survey of RYR1-related diseases: The patient perspective on clinical trial participation

Lizan Stinissen, Sanne A.J.H. van de Camp, Brentney Simon, Lindsay Goldberg, Baziel G.M. van Engelen, Kirsten E. Bevelander, Wija Oortwijn, Nicol C. Voermans,
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Background and objective

RYR1 -related diseases ( RYR1 -RD) are a group of genetic conditions characterized by early-onset muscle weakness, causing functional impairments. An increasing number of clinical trials is on the horizon. This study aims to improve trial readiness by characterizing the patient perspective on clinical trial participation.

Methods

In collaboration with RYR1 -RD patients and patient representatives we adapted an existing facioscapulohumeral muscular dystrophy (FSHD) survey and conducted the resulting international patient survey in 2025. We used descriptive statistics to analyze the patient characteristics and personal experiences and expectations in clinical trials.

Results

In total 146 participants (of whom 30 with previous trial experiences), residing mainly in the Netherlands or the United States, completed the survey. Symptoms that caused the greatest difficulties in daily life, including muscle weakness, fatigue, and impaired mobility, were seen as important outcomes for future trials. The possibility to receive the trial drug and results when published were reported as facilitators of trial participation. There was a strong demand for receiving updates on ongoing and upcoming trials. Fear of side effects and travel time were reported as barriers.

Conclusion

A clear understanding of patients’ expectations and preferences is important for relevant future clinical trials to better align with patients’ needs.

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