The Characterisation of Pulmonary Function in Patients with Mucopolysaccharidoses IVA: A Longitudinal Analysis.


Bibliographical metadata


Mucopolysaccharidoses type IVA (Morquio disease) is a rare, autosomal recessive lysosomal storage disease that causes both obstructive and restrictive airway pathology, with respiratory failure being the primary cause of death. In this retrospective, longitudinal, repeated-measures cohort study, descriptive statistics and non-parametric correlation were performed for demographic, respiratory function and oximetry (sleep studies) variables over a study period from January 2009 to December 2018. Composite clinical endpoints used in this study for evaluating pulmonary function included spirometry and oximetry variables.

We provides original data on the longitudinal characterization of pulmonary function changes in children with Mucopolysaccharidoses (MPS) IVA by presenting the data and nuanced trends of changes from sequential spirometry and oximetry. The sample size included 16 subjects, 13 had undergone enzyme replacement therapy (ERT), three had not undergone ERT treatment. A total of 180 induvial plots are presented for spirometry variables (FEV1, FEV1 [%Pred] FVC, FVC [%Pred] and FEV1/FVC), 6MWT and oximetry variables (median %Spo2, ODI 3%, mean nadir 3%, ODI 4%, mean nadir 4% and min dip SpO2 [%]); over a nine-year period at a single quaternary pediatric metabolic center. This data has been made public and has utility to clinicians and researchers by providing the first comprehensive report of detailed changes in pulmonary function in children with MPS IVA, with and without ERT; as well as changes in pulmonary function following the institution of non-invasive ventilation (NIV) and adenotonsillectomy. The data is supplemental to our study “The Characterization of Pulmonary Function in Patients with Mucopolysaccharidoses IVA: A Longitudinal Analysis” by Kenth et al.
Date made available5 Apr 2019
PublisherUniversity of Manchester