Abstract
BackgroundNiemann-Pick disease type C (NPC) is a debilitating condition that impacts patients’ and caregivers’ quality of life (QOL) and reduces the patient’s life expectancy. Since there is little qualitative research from the perspective of patients and family caregivers, this study explored the impact of NPC on patients’ and caregivers’ daily lives to understand the burden of disease.ResultsA survey of caregivers for patients with NPC and adult patients with NPC (n = 49; patient age: 13 months–65 years) assessed NPC severity, importance of NPC symptoms, and how symptoms impacted patients’ and caregivers’ activities of daily living (ADLs) and health-related QOL (HRQOL). Follow-up interviews with a subset of survey participants (n = 28) explored the ranking of NPC symptom importance and impact on ADLs and HRQOL. Findings indicated that the most important manifestations of NPC were ambulation, swallowing, speech, fine motor skills, and cognition, which were those that had the most significant impact on ADLs and HRQOL. A wide range of ADLs were affected by NPC, mainly eating/drinking and the ability to perform daily tasks, including self-care, communicating, participating in school or work, and moving indoors as well as outside the home. Along with these impacts, there was an increased risk of experiencing dangerous or life-threatening situations leading to loss of patient independence and additional caregiver burden, often requiring changes in lifestyle such as giving up work. All aspects of patients’ and caregivers’ HRQOL were affected. Participants reported feelings of social isolation, loss of enjoyment in activities (patients), and feelings of sadness or worry (caregivers).ConclusionsAmbulation, swallowing, speech, fine motor skills, and cognition are important manifestations of NPC. ADLs and HRQOL were impaired in the majority of patients as well as their caregivers. The findings were independent of current age, age of onset of symptoms, and level of NPC disease-related disability; however, the impact increased at higher levels of disease disability. Knowing the impact of NPC on patients and caregivers is important for understanding the lived experience of NPC and for identifying potential areas of support.
Highlights
Niemann-Pick disease type C (NPC) is a debilitating condition that impacts patients’ and caregivers’ quality of life (QOL) and reduces the patient’s life expectancy
Study population A total of 49 surveys were completed across two countries: 37 in the United States (US) and 12 in the United Kingdom (UK)
A broad range of current ages, age of onset, and NPC severity were included in both the survey and interview (Table 1)
Summary
Niemann-Pick disease type C (NPC) is a debilitating condition that impacts patients’ and caregivers’ quality of life (QOL) and reduces the patient’s life expectancy. NPC is a lysosomal storage disease caused by mutations in the NPC1 (≈ 95% of cases) or NPC2 (≈ 5% of cases) genes [2, 3], which encode lysosomal proteins essential for intracellular transport and the metabolism of lipids [4, 5]. The mutation of these genes leads to NPC proteins often being. Mengel et al Orphanet Journal of Rare Diseases (2021) 16:493 misfolded or degrading prematurely This process causes an accumulation of cholesterol and lipids within cells and impaired lysosomal function [5, 6]. In recent years, several drug treatments have been considered for orphan drug status for NPC by the United States (US) Food and Drug Administration (FDA), including cyclodextrin [11, 12], miglustat [13], and most recently arimoclomol [14]
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