Abstract
BackgroundThe objective of this study was to describe clinical manifestations and events of patients with mucopolysaccharidosis (MPS) VI in Turkey who are treated with galsulfase enzyme replacement therapy (ERT). Clinical data of 14 children with MPS VI who were followed up at the Department of Pediatrics of the Gazi University Faculty of Medicine in Ankara, Turkey were retrospectively collected from the patients’ medical records. Patients were selected based on availability of a pre-ERT baseline and follow-up clinical data for a similar period of time (1.9–3.2 years). Event data (occurrence of acute clinical events, onset of chronic events, surgeries) collected during hospital visits and telemedicine were available for up to 10 years after initiation of ERT (2.5–10 years).ResultsAge at initiation of ERT ranged from 2.8 to 15.8 years (mean age 7.5 years). All patients presented with reduced endurance and skeletal abnormalities (dysostosis multiplex) on radiography. Other common clinical manifestations were cardiac valve disease (N = 13), short stature (N = 11), cranial abnormalities on MRI (N = 10), spinal abnormalities on MRI (N = 7), and mild cognitive impairment (N = 6). School attendance was generally poor, and several patients had urinary incontinence. After 1.9 to 3.2 years of ERT, most patients showed improvements in endurance in the 6-min walk test and 3-min stair climb tests; the frequency of urinary incontinence decreased. ERT did not seem to prevent progression of cardiac valve disease, eye disorders, hearing loss, or bone disease. Long-term event-based data showed a high incidence of respiratory tract infections, adenotonsillectomy/adenoidectomy, reduced sleep quality, sleep apnea, and depression before initiation of ERT. The number of events tended to remain stable or decrease in all patients over 2.5–10 years follow-up. However, the nature of the events shifted over time, with a reduction in the frequency of respiratory tract infections and sleep problems and an increase in ophthalmologic events, ear tube insertions, and depression.ConclusionsThis case series shows the high disease burden of the MPS VI population in Turkey and provides a unique insight into their clinical journey based on real-life clinical and event-based data collected before and after initiation of ERT.
Highlights
The objective of this study was to describe clinical manifestations and events of patients with mucopolysaccharidosis (MPS) VI in Turkey who are treated with galsulfase enzyme replacement therapy (ERT)
Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (OMIM # 253200) is a rare lysosomal storage disorder caused by deficient N-acetylgalactosamine4-sulfatase (EC 3.1.6.12) activity [1, 2]
Clinical data that were collected during hospital visits included anthropometrics, endurance in the 6-min walk test (6MWT) and 3-min stair climb test (3MSCT), musculoskeletal manifestations on radiography, cranial and spine magnetic resonance imaging (MRI), echocardiography findings, outcomes of ophthalmological and hearing examinations, psychometric evaluation (Bayley Scales and Kaufman Assessment Battery), concomitant medications, and information on urinary incontinence and missed school days
Summary
The objective of this study was to describe clinical manifestations and events of patients with mucopolysaccharidosis (MPS) VI in Turkey who are treated with galsulfase enzyme replacement therapy (ERT). İnci et al Orphanet J Rare Dis (2021) 16:438 accumulation of glycosaminoglycans (GAGs) in tissues and organs can result in musculoskeletal abnormalities, short stature, coarse facial features, pulmonary, cardiac, and neurological disease (spinal cord compression, carpal tunnel syndrome), hepatosplenomegaly, impaired vision, and hearing loss [1, 3]. The pivotal clinical trials of galsulfase have shown rapid and sustained reductions in urinary GAGs (uGAG) and significant and sustained improvements in endurance in the 6-min walk test (6MWT) and 3-min stair climb test (3MWCT), and in pulmonary function in treated patients, as well as an acceptable safety profile [9,10,11,12,13]. Glasulfase has been available to MPS VI patients in Turkey since 2006
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