The burden of mitochondrial disease with associated seizures: systematic literature reviews of health-related quality of life, utilities, costs and healthcare resource use data

Orphanet Journal of Rare Diseases

Review

Ioannis Tomazos¹  Vij Senthilnathan¹  Enrico Bertini²  Mick Arber³  Deborah Watkins³  Emily Gregg³  Sara Graziadio³  Chris Bartlett³ 

[1] PTC Therapeutics, South Plainfield, NJ, USA;Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu’ Children’s Research Hospital, IRCCS, Rome, Italy;York Health Economics Consortium, York, UK;

关键词: Mitochondrial diseases;    Epilepsy;    Seizures;    Systematic literature reviews;    Disease burden;    Utilities;    Health state utility values;    Health-related quality of life;    Costs;    Healthcare resource use;   

DOI  :  10.1186/s13023-023-02945-6

 received in 2023-05-04, accepted in 2023-10-04,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundMitochondrial disease is a degenerative, progressive, heterogeneous group of genetic disorders affecting children and adults. Mitochondrial disease is associated with morbidity and mortality, with predominantly neurological and neuromuscular symptoms including dystonia, weakness, encephalopathy, developmental delay and seizures. Seizures are one of the most common and severe manifestations of mitochondrial disease. These seizures are typically refractory to common anti-seizure therapies. There are no approved disease-modifying treatments for mitochondrial disease. Our objective was to conduct two systematic literature reviews to identify health-related quality of life (HRQoL), utilities, costs and healthcare resource use data in mitochondrial disease with associated seizures.MethodsA range of databases and information sources were searched up to July 2022 to identify eligible studies. Search strategies included a range of variant terms for mitochondrial disease and HRQoL, utilities, cost and healthcare resource use outcomes. Two reviewers independently assessed articles against the eligibility criteria; studies were extracted by one reviewer and checked by a second. Risk of bias was assessed for studies reporting HRQoL data. Results were narratively assessed.ResultsSeven studies were eligible for the HRQoL and utilities review. The studies used different tools to report data, and despite the variability in methods, HRQoL scores across the studies showed moderate/severe disease in patients with mitochondrial disease with associated seizures. Parents of patients with mitochondrial disease with associated seizures were characterised by high total parenting stress. No studies reported utilities data. Two case reports and one retrospective review of medical records of children who died in hospital were eligible for the costs and resource use review. These provided limited information on the duration of hospital stay, in an intensive care unit (ICU), on mechanical ventilation. No studies reported costs data.ConclusionThese reviews highlight the limited HRQoL, utilities, costs and resource use data and the variability of instruments used in mitochondrial disease with associated seizures. However, the data available indicate that mitochondrial disease with associated seizures affects patients’ and caregivers’ HRQoL alike. No robust conclusion can be drawn on the impact of mitochondrial disease with associated seizures on hospital or ICU length of stay.Trial registration PROSPERO: CRD42022345005.

【 授权许可】

CC BY   
© Institut National de la Santé et de la Recherche Médicale (INSERM) 2023

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