Search results for "mucopolysaccharidosis"

Clinicopathological conference: an adolescent girl with severe mental impairment and mucopolysacchariduria.

1985

Mucopolysaccharidosis Type VII (Sly disease) survivors

2013

treatment. Onset of neurological symptoms at age 8 and in adolescence. Pair 4: L.M. died at age 5 months due to liver failure. P.M. (7 years): earlyinfantile form, despite treatment start at age 2 progressive neurological deterioration. Pair 5: R.K.: late-infantile form, untreated, died at age 9 due to progressive neurological involvement. M.K.: late infantileform, start of treatment at age 5, died at age 13 due to epileptic encephalopathy. These cases reveal that disease onset and progression in siblings with NPC vary, and that miglustat can slow disease progression.

Age at symptom onset, diagnosis, and enzyme replacement therapy (ERT) initiation among family members with mucopolysaccharidosis II (Hunter Syndrome)…

2013

Clinical guidelines for diagnosing and managing ocular manifestations in children with mucopolysaccharidosis.

2011

The mucopolysaccharidoses (MPS) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans in several tissues and organs. This accumulation results in an array of clinical manifestations and premature death in severe cases. Ocular problems are very common in children with MPS and may involve the cornea, sclera, trabecular meshwork, retina, optic nerve and also the posterior visual pathways. The aims of this study are to give an overview of ocular problems in MPS and to provide clinical guidelines for paediatric ophthalmologists for early diagnosis and management of ocular manifestations in children with MPS. Diagnostic problems may arise in child…

A Phase III Extension Study of Aldurazyme®(Laronidase) in Mucopolysaccharidosis I

2007

Source document verification in the Mucopolysaccharidosis Type I Registry

2011

Purpose The Mucopolysaccharidosis Type I (MPS I) Registry is an international observational database that tracks the natural history and the outcomes of patients with MPS I. The Registry was a regulatory requirement following the approval of laronidase enzyme replacement therapy for MPS I in 2003. All data are collected voluntarily after informed consent from the patient or family. Data are checked through queries, monthly reviews, and electronic audits to identify missing, inconsistent, or invalid data. This analysis sought to determine overall data accuracy in the Registry through source document verification (SDV). Methods Two phases of SDV were performed. In each phase, Registry data we…

Relationship Between Patient-Reported Outcomes and Clinical Outcomes in Patients With Morquio A Syndrome

2019

Abstract This cross-sectional analysis assessed the correlation between patient-reported outcomes (PROs) and clinical outcomes in 24 German patients with Morquio A. Clinical outcomes included 6-minute walk test (6MWT), 3-minute stair climb (3MSC) test, and joint range of motion as measures for endurance/mobility, forced vital capacity (FVC) and maximum voluntary ventilation (MVV) as measures for respiratory function, and height as an important manifestation. The PROs included the EuroQoL (EQ) 5D-5L (EQ5D-5L), to measure health-related QoL (HRQoL), and patients’ rating of their ability to walk, climb, or breathe. In adults, endurance and pulmonary function measures and height showed strong a…

Evaluation of the long-term treatment effects of idursulfase using statistical modelling: Data from the Hunter Outcome Survey (HOS)

2019

Treatment for mucopolysaccharidosis type II (MPS II Hunter syndrome) is available in the form of intravenous enzyme replacement therapy (ERT) with idursulfase (Shire, Lexington, MA, USA). This analysis used statistical modelling to evaluate the long-term treatment effects of idursulfase on selected clinical parameters based on data from HOS, a global, observational registry (Shire, Lexington, MA, USA). Mixed modelling was used to analyse data from male patients followed prospectively in HOS who had received idursulfase for 5-8 years and information available for two or more timepoints, of which one was pre-ERT. Data were excluded from patients with only pre-ERT information available, who ha…

Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses.

2004

Glycosaminoglycans are accumulated in both mucopolysaccharidoses (MPS) and mucolipidoses (ML). MPS I, II, III and VII and ML II and ML III patients cannot properly degrade heparan sulphate (HS). In spite of the importance of HS storage in the metabolic pathway in these diseases, blood and urine HS levels have not been determined systematically using a simple and economical method. Using a new ELISA method using anti-HS antibodies, HS concentrations in blood and urine were determined in MPS and ML II and ML III patients. HS concentrations were determined in 156 plasma samples from MPS I (n = 23), MPS II (n = 26), MPS III (n = 24), MPS IV (n = 62), MPS VI (n = 5), MPS VII (n = 5), ML II (n = …

B and T lymphocytes are affected in lysosomal disorders--an immunoelectron microscopic study.

1991

Circulating lymphocytes of four patients with mucopolysaccharidoses II and IIIA, four patients with juvenile neuronal ceroid-lipofuscinosis, one patient each with glycogenosis type II, infantile neuronal ceroid-lipofuscinosis, and Gaucher disease were classified by immunoelectron microscopy as B or T lymphocytes. Disease-specific lysosomal inclusions as well as non-specific lysosomal organelles, especially Gall bodies were identified in B and T lymphocytes. These non-quantitative studies indicate that both B and T lymphocytes participate in the lysosomal storage process.