The objective of this research was to determine the effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease (patients aged 2 to 18 years at symptom onset) by systematic review.
A systematic search was conducted according to a protocol designed a priori of bibliographic databases and search engines. Studies selected according to pre-specified criteria were assessed for quality and risk of bias using standardised appraisal tools. Data were reported according to PRISMA conventions (Liberati et al. in PLoS Med 6:e1000100, 2009) and synthesised using GRADE (Guyatt et al. in J Clin Epidemiol 64:380–382, 2011).
Of 2537 titles screened, 1 case series and 16 case reports met the inclusion criteria. No studies reported on the impact of enzyme replacement therapy on the survival of juvenile-onset patients. Low level evidence found that respiratory function may improve or be maintained in the early months of therapy. Improved muscle function in the first 6 to 12 months was also suggested, but results may be confounded by natural development. Patients with less severe baseline status and treated at a younger age showed more response than patients with more severe baseline status, treated as adults.
Interpretation of the findings was hindered by the lack of good quality evidence. The available data suggests that some JOPD patients may benefit in the short term from ERT through improved muscle strength and a reduced need for assisted ventilation. A focus by clinicians on improved and more consistent evidence collection, and use of study designs tailored to rare conditions, would provide more definitive results.
ESM 1 (DOCX 64.6 kb)10545_2018_198_MOESM1_ESM.docx
Cerón-Rodríguez M, Zamora A, Erdmenger J, Ureña R, Consuelo Sánchez A (2014) First case of a patient with late-onset Pompe disease: cardiomyopathy remission with enzyme replacement therapy. Boletín Médico del Hospital Infantil de México (English Edition) 71:41–46
Deroma L, Guerra M, Sechi A et al (2014) Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study. Eur J Pediatr 173L:805–813 CrossRef
Furusawa Y, Mitsuhashi S, Mori-Yoshimura M et al (2014) Late-onset Pompe disease after 4 years of enzyme replacement therapy: an autopsy case. Neurol Clin Neurosci 2:7–9 CrossRef
Khan K, Ter Riet G, Glanville J, Sowden A, Kleijnen J (2001) Undertaking systematic reviews of research on effectiveness. CRD's guidance for those carrying out or commissioning reviews. CRD Report Number 4 (second edition), NHS Centre for Reviews and Dissemination, University of York, York
Korpel M, Paeta A, Lofber M, Timonen M, Lamminen A, Kiuru-Enari S (2009) A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy. Muscle Nerve 40:143–148 CrossRef
McMaster University (2015) GRADEpro GDT: GRADEpro Guideline Development Tool [Software]. (developed by Evidence Prime, Inc.). <https://gradepro.org/>
SIGN (2011) SIGN 50: A guideline developer’s handbook. Scottish Intercollegiate Guideline Network, Edinburgh
- The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review
- Springer Netherlands
- Journal of Inherited Metabolic Disease
Official Journal of the Society for the Study of Inborn Errors of Metabolism
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
Neu im Fachgebiet Innere Medizin
Meistgelesene Bücher aus der Inneren Medizin
Mail Icon II