Patients' experiences of Parkinson's disease: a qualitative study in glucocerebrosidase and idiopathic Parkinson's disease
Background Approximately 7 10% of Parkinson's disease (PD) patients carry a GBA (Glucocerebrosidase) mutation (GBA PD patients) which may influence the disease's clinical course. Objectives This study aimed to explore the patient experience of GBA PD and identify the most important symptoms and impacts to inform clinical trial measurement strategies. Methods Twenty PD patients n 15 GBA PD; n 5 idiopathic PD) participated in qualitative interviews which explored concepts spontaneously reported or identified through a literature review. Telephone interviews with five expert clinicians included discussion of a preliminary conceptual model derived from literature. Verbatim transcripts were thematically analysed. Results Thirty symptoms reported by patients were categorized as motor, non motor, and cognitive/psychiatric. Tremor n 13) memory loss (n 13) rigidity/stiffness n 11) and speech problems (n 11) were considered the most important and impactful symptoms by GBA PD patients, although other symptoms were also relevant to the majority of patients. Key impacts included: sleep disturbances n 13) handwriting changes (n 13) reduced social interaction n 12) dyskinesia n 10) depressed mood n 9) and fear of falling n 8) Key symptoms and impacts reported by GBA PD patients were consistent with those reported by idiopathic PD patients. Clinician interview results supported the patient findings, although some clinicians indicated that cognitive/psychiatric symptoms may present earlier in GBA PD patients. The concepts emerging from the research informed updates to a conceptual model of GBA PD patients' disease experience. Conclusions The findings provide in depth understanding of the patient experience of GBA PD. The findings confirm that the concepts relevant to assess in GBA PD are consistent with those relevant to assess in idiopathic PD; however, greater consideration of cognitive/psychiatric symptoms may be warranted in GBA PD populations.
Journal of Patient Reported Outcomes