Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up

Autor: Michelle E. Kruijshaar, Iris Plug, Stephan C.A. Wens, Pieter A. van Doorn, Ans T. van der Ploeg, Tim A. Kanters, Deniz Güngör, Arnold J. J. Reuser, Dimitris Rizopoulos
Přispěvatelé: Internal Medicine, Pediatrics, Epidemiology, Health Technology Assessment (HTA), Neurology, Clinical Genetics
Rok vydání: 2015
Předmět:
0301 basic medicine
Gerontology
Adult
Male
Pediatrics
medicine.medical_specialty
congenital
hereditary
and neonatal diseases and abnormalities
Activities of daily living
Adolescent
Disease
030105 genetics & heredity
Pulmonary function testing
03 medical and health sciences
Young Adult
0302 clinical medicine
Quality of life (healthcare)
Pregnancy
Glycogen storage disease type II
Activities of Daily Living
medicine
Genetics
Humans
Enzyme Replacement Therapy
Genetics(clinical)
Muscle Strength
Prospective Studies
Young adult
Child
Genetics (clinical)
Aged
business.industry
Glycogen Storage Disease Type II
Metabolic disorder
Infant
nutritional and metabolic diseases
Enzyme replacement therapy
Middle Aged
medicine.disease
3. Good health
Child
Preschool
Quality of Life
Original Article
Female
business
030217 neurology & neurosurgery
Follow-Up Studies
Zdroj: Journal of Inherited Metabolic Disease, 39(2), 253-260. Springer Netherlands
Journal of Inherited Metabolic Disease
ISSN: 0141-8955
Popis: Summary Background Pompe disease is an inheritable metabolic disorder for which enzyme replacement therapy (ERT) has been available since 2006. Effects of ERT have been shown on distance walked, pulmonary function and survival. We investigated whether it also improves quality of life and participation in daily life in adult patients with the disease. Methods In an international survey, we assessed quality of life (Short Form 36, SF-36) and participation (Rotterdam Handicap Scale, RHS) annually between 2002 and 2012. Repeated measurements mixed effects models were used to describe the data over time. Results Responses were available for 174 adult patients. In the periods before and after start of ERT, the median follow-up times were 4 years each (range 0.5-8). The SF-36 Physical Component Summary measure (PCS) deteriorated before ERT (-0.73 score points per year (sp/y); CI 95 % -1.07 to -0.39), while it improved in the first 2 years of ERT (1.49 sp/y; CI 0.76 to 2.21), and remained stable thereafter. The Mental Component Summary measure (MCS) remained stable before and during ERT. After declining beforehand (-0.49 sp/year; CI -0.64 to-0.34), the RHS stabilized under ERT. Conclusion In adult patients with Pompe disease, ERT positively affects quality of life and participation in daily life. Our results reinforce previous findings regarding the effect of ERT on muscle strength, pulmonary function and survival.
Databáze: OpenAIRE
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