Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective
van de Camp, Sanne A.J.H. | Stinissen, Lizan | Huseth, Andrew | Simon, Brentney | Ryan, Jennifer | Sarkozy, Anna | Van Petegem, Filip | Goldberg, Michael F. | Jungbluth, Heinz | Böhm, Johann | Oortwijn, Wija | Dirksen, Robert T. | Voermans, Nicol C.
Background and objective: Pathogenic variants of RYR1 , the gene encoding the principal sarcoplasmic reticulum calcium release channel (RyR1) with a crucial role in excitation-contraction coupling, are among the most common genetic causes of non-dystrophic neuromuscular disorders. We recently conducted a questionnaire study focusing on functional impairments, fatigue, and quality of life (QoL) in patients with RYR1 -related diseases (RYR1 -RD) throughout the recognized disease spectrum. In this previous questionnaire study the medical perspective was taken, reflective of a study protocol designed by neurologists and psychologists. With this present study we wanted to specifically address the patient perspective.
Methods: Together with affected individuals, family members, and advocates concerned with RYR1 -RD, we developed an online patient survey that was completed by 227 patients or their parents/other caretakers (143 females and 84 males, 0–85 years). We invited 12 individuals, representing most of the patient group based on age, sex, race, and type and severity of diagnosis, to share their personal experiences on living with a RYR1 -RD during an international workshop in July 2022. Data were analyzed through a mixed-methods approach, employing both a quantitative analysis of the survey results and a qualitative analysis of the testimonials.
Results: Data obtained from the combined quantitative and qualitative analyses provide important insights on six topics: 1) Diagnosis; 2) Symptoms and impact of the condition; 3) Physical activity; 4) Treatment; 5) Clinical research and studies; and 6) Expectations.
Conclusions: Together, this study provides a unique patient perspective on the RYR1 -RD spectrum, associated disease impact, suitable physical activities and expectations of future treatments and trials, and thus, offers an essential contribution to future research.