The Characterisation of Pulmonary Function in Patients with Mucopolysaccharidoses IVA: A Longitudinal Analysis.
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.
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MPS IVA patients treated at the Royal Manchester Children’s Hospital, Manchester (UK) between 2009 – 2018, were identified from an existing patient database and medical records. This yielded a study group of 16 subjects for whom long-term follow-up was available at a single center. A retrospective review was undertaken of baseline demographics, spirometry and oximetry (sleep studies), ERT and other therapeutic interventions – including both medical and surgical measures. The data for each subject was tabulated and examined sequentially over the study period to provide a nuanced characterization of the changes in pulmonary function, evolution and natural history of disease progression. The subjects in this study included those from the MOR 100 phase 1 study (n=5), MOR 005 phase III placebo controlled (n=5) and the MOR 007 trial (n=6).