Patient-reported Clinical Care Experiences while Navigating the Progression of Dysferlinopathy (Limb-Girdle Muscular Dystrophy 2B/R2)

Abstract

Dysferlinopathy is an ultra-rare, autosomal recessive form of limb-girdle muscular dystrophy (LGMD) with no existing treatments or disease-specific clinical care guidelines. Efforts have been made to prepare for future interventional trials of dysferlinopathy through preclinical research, natural history studies, outcome measure development, diagnostic standardization, and a disease-specific global patient registry known as the Dysferlin Registry. However, activities to de-risk drug development programs for the disease have neglected to explore the clinical experiences of individuals with the condition. Knowing what matters most to individuals with dysferlinopathy surrounding their clinical management can inform key opinion leaders as they develop the first standards of care guidelines for the condition. Here, we explore themes from interviews with eight participants through a qualitative, phenomenological framework with key findings suggestive of the need to educate the clinical communities, humanize clinical approaches, customize care, and utilize trauma-informed clinical communication with the dysferlinopathy patient community, facilitating productive clinical engagement.