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Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program
- Source :
- Molecular Genetics and Metabolism Reports, Vol 15, Iss, Pp 116-120 (2018), Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid, Consejería de Sanidad de la Comunidad de Madrid, Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela, instname, Molecular Genetics and Metabolism Reports, Dipòsit Digital de Documents de la UAB, Universitat Autònoma de Barcelona
- Publication Year :
- 2018
- Publisher :
- Elsevier, 2018.
-
Abstract
- There is a growing interest in evaluating the effectiveness of enzyme replacement therapy (ERT) with elosulfase alfa in patients with mucopolysaccharidosis type IVA (MPS-IVA) under real-world conditions. We present the experience of seven pediatric MPS-IVA patients from the Spanish Morquio-A Early Access Program. Efficacy was evaluated based on the distance walked in the 6-min walking test (6-MWT) and the 3-min-stair-climb-test (3-MSCT) at baseline and after 8 months of ERT treatment. Additionally, urinary glycosaminoglycans were measured, and a molecular analysis of a GALNS mutation was performed. The health-related quality of life was evaluated using the EuroQoL (EQ)-5D-5 L.The distance walked according to the 6-MWT ranged from 0 to 325 m at baseline and increased to 12–300 m after 8 months with elosulfase alfa (the walked distance improved in all patients except one). An increase was observed for the two patients who had to use a wheelchair. Improvements were also observed for the 3-MSCT in four patients, whereas two patients showed no changes. Three patients showed an improvement in the EQ-VAS score, whereas the scores of three patients remained stable. Regarding urinary glycosaminoglycans measurements, an irregular response was observed. Our results showed overall improvement in endurance and functionality after 8 months of elosulfase alfa treatment in a heterogeneous subset of MPS IVA patients with severe clinical manifestations managed in a real-world setting. Keywords: MPS IVA, Morquio A, Lysosomal storage disorder, Urinary GAGs, Elosulfase alfa, Quality of life
- Subjects :
- 0301 basic medicine
Quality of life
medicine.medical_specialty
Lysosomal storage disorder
Urinary system
MPS IVA
Mucopolysaccharidosis Type IVA
03 medical and health sciences
chemistry.chemical_compound
Endocrinology
Elosulfase alfa
Internal medicine
Morquio A
Genetics
Medicine
In patient
Molecular Biology
lcsh:QH301-705.5
lcsh:R5-920
Walking test
business.industry
Enzyme replacement therapy
Urinary GAGs
Molecular analysis
030104 developmental biology
chemistry
lcsh:Biology (General)
business
lcsh:Medicine (General)
human activities
Research Paper
Subjects
Details
- Language :
- English
- ISSN :
- 22144269
- Volume :
- 15
- Database :
- OpenAIRE
- Journal :
- Molecular Genetics and Metabolism Reports
- Accession number :
- edsair.doi.dedup.....d30e04fca1b937305ab663b8c130e0fd