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. 2020 Aug 5;4(1):65.
doi: 10.1186/s41687-020-00230-9.

Patients' experiences of Parkinson's disease: a qualitative study in glucocerebrosidase and idiopathic Parkinson's disease

N Bonner  1 , S Bozzi  2 , L Morgan  3 , B Mason  3 , M J Peterschmitt  4 , T Z Fischer  4 , R Arbuckle  3 , M Reaney  5
Affiliations

Patients' experiences of Parkinson's disease: a qualitative study in glucocerebrosidase and idiopathic Parkinson's disease

N Bonner et al. J Patient Rep Outcomes. .

Abstract

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.

Keywords: Glucocerebrosidase mutation; Parkinson’s disease; Patient experience; Qualitative interviews.

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Conflict of interest statement

The study was funded by Sanofi, who commissioned Adelphi Values, a health outcomes agency by whom N Bonner, L Morgan, B Mason and R Arbuckle are employed to conduct this research. S Bozzi, J Peterschmitt are employed by Sanofi. M Reaney and TZ Fischer were employed by Sanofi at the time this research was conducted. No other conflicts are reported.

The authors declare that they have other no competing interests in this manuscript.

Figures

Fig. 1
Fig. 1
Impact domains reported by patients
Fig. 2
Fig. 2
Conceptual model of GBA-PD
See this image and copyright information in PMC

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