Trusted Resources: Education
Scientific literature and patient education texts
Real World Long-Term Outcomes in Patients With Mucopolysaccharidosis Type II: A Retrospective Cohort Study
source: Molecular genetics and metabolism reports
year: 2021
authors: Tomita K,Okamoto S,Seto T,Hamazaki T
summary/abstract:We investigated the decline of activities of daily living with symptomatic progression in patients with mucopolysaccharidosis type II (MPS II) and investigated the associated factors. Clinical data were retrospectively collected from the medical records of 28 patients with MPS II who visited our hospital between October 2007 and August 2019. Activities of daily living were assessed over time using a 5-point scale (from stage 1, indicating independent, to stage 5, indicating total assistance + medical care); the relationships of the interval years from stage 2 (mild symptoms) to stage 4 (total assistance) with therapeutic intervention, anti-drug antibodies (ADA), urinary glycosaminoglycans (uGAG), and genotypes were analyzed. Eight are attenuated types, and 20 are severe types. Further, 20 underwent enzyme replacement therapy (ERT) alone, 5 underwent hematopoietic stem cell transplantation (HSCT) alone, and 3 underwent both therapy. The mean interval years (standard deviation) from stage 2 to 4 was 3.5 (0.7) and 7.3 (3.3) in patients who started undergoing ERT ( = 6) and HSCT ( = 3) at stage 2, respectively, whereas it was 3.1 (1.5) in patients who received no treatment until they reached stage 4 ( = 8). The study findings revealed the process of changes in the activities of daily living over a long duration in patients with MPS II undergoing different treatments. In severe type, the activity deteriorated regardless of the stage at which ERT was initiated. The activity declined slower in patients who received HSCT at an early stage.
organization: Department of Pediatrics Osaka City University Graduate School of Medicine, Japan.DOI: 10.1016/j.ymgmr.2021.100816
read more
Related Content
-
A Guide to Understanding MPS IIMPS II is a mucopolysaccharide disease k...
-
Mucopolysaccharidosis Type II: A Kenyan Case SeriesHunter syndrome, or mucopolysaccharidosi...
-
Impact of the COVID-19 Pandemic on the Standard of Care for Patients With Lysosomal Storage Diseases: A Survey of He...The impact of the COVID-19 pandemic on t...
-
Takeda to Commercialize Next-Generation Hunter Syndrome Therapy Through Collaboration With JCR PharmaceuticalsTakeda Pharmaceutical Company Limited an...
-
[Pharmacological Property, Mechanism of Action and Clinical Study Results of Pabinafusp Alfa (Genetical Recombinatio...Mucopolysaccharidosis type II (MPS II) i...
-
Hunting Hunter Syndrome: A Rare Disease Hidden Among Childhood Complaintshttps://www.youtube.com/watch?v=QJYy4wbV...
-
Evaluation of the Long-Term Treatment Effects of Intravenous Idursulfase in Patients With Mucopolysaccharidosis II (...Mucopolysaccharidosis II (MPS II; Hunter...