Mucopolysaccharidoses

Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.

Also Known As:

Networked: 1486 relevant articles (52 outcomes, 79 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Gaucher Disease (Gaucher's Disease)
2.	Mucopolysaccharidosis II (Hunter Syndrome)
3.	Cystic Fibrosis (Mucoviscidosis)
4.	Lysosomal Storage Diseases (Lysosomal Storage Disease)
5.	Mucopolysaccharidosis VI (Syndrome, Maroteaux-Lamy)

Experts

1.	Giugliani, Roberto: 47 articles (03/2015 - 01/2002)
2.	Hopwood, John J: 39 articles (09/2015 - 02/2002)
3.	Tomatsu, Shunji: 29 articles (03/2015 - 07/2003)
4.	Orii, Tadao: 24 articles (02/2015 - 07/2003)
5.	Sly, William S: 20 articles (01/2016 - 12/2003)
6.	Jakóbkiewicz-Banecka, Joanna: 20 articles (10/2015 - 01/2005)
7.	Montaño, Adriana M: 19 articles (02/2015 - 11/2005)
8.	Hopwood, J J: 18 articles (12/2012 - 04/2000)
9.	Wijburg, Frits A: 17 articles (06/2015 - 05/2010)
10.	Scarpa, Maurizio: 16 articles (11/2014 - 11/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Mucopolysaccharidoses:

1.	GlucuronidaseIBA 06/01/2003 - "A comprehensive analysis of AAV1-treated brains from beta-glucuronidase-deficient mice (mucopolysaccharidosis type VII) showed complete reversal of pathology in all areas of the brain for at least 1 year, demonstrating that the combination of this serotype and experimental strategy is therapeutically effective for treating global neurometabolic disorders." 10/16/2012 - "We recently reported that PerT-GUS, a form of β-glucuronidase (GUS) chemically modified to eliminate its uptake and clearance by carbohydrate-dependent receptors, crossed the BBB and cleared neuronal storage in an immunotolerant model of murine mucopolysaccharidosis (MPS) type VII. In this respect, the chemically modified enzyme was superior to native β-glucuronidase. " 09/15/1999 - "To better understand the contribution of specific hematopoietic lineages to the efficacy of BMT, we transplanted beta-glucuronidase-positive mononuclear phagocytes derived from either the peritoneum or from bone marrow in vitro into syngeneic recipients with mucopolysaccharidosis type VII (MPS VII). " 05/01/2000 - "Recombinant adenoviruses expressing human beta-glucuronidase (AxCAhGUS) and CTLA-4Ig (AxCACTLA-4Ig) were generated and therapeutic efficacy was investigated using a murine model of mucopolysaccharidosis type VII (MPSVII). " 09/15/1999 - "Behavior and therapeutic efficacy of beta-glucuronidase-positive mononuclear phagocytes in a murine model of mucopolysaccharidosis type VII."
2.	GlycosaminoglycansIBA 01/01/1982 - "High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses." 01/01/2010 - "Only some of these products were found to be effective in inhibition of the synthesis of glycosaminoglycans (compounds whose degradation is severely impaired in mucopolysaccharidoses, including Sanfilippo disease) in cultured fibroblasts. " 02/01/1990 - "Two methods for analysis of urinary glycosaminoglycans (GAGs) have been modified and improved for efficient screening of mucopolysaccharidoses. " 01/01/2010 - "Neonatal screening for mucopolysaccharidoses by determination of glycosaminoglycans in the eluate of urine-impregnated paper: preliminary results of an improved DMB-based procedure." 01/01/1997 - "Mucopolysaccharidoses type II: enzymatic activity and quantitative and qualitative studies of urinary glycosaminoglycans in five patients."
3.	Iduronidase (alpha-L-Iduronidase)IBA 12/01/2010 - "Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I." 04/01/2010 - "Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients." 01/01/2013 - "Cumulatively, our results allow transition to pre-clinical studies of SB-mediated alpha-L-iduronidase expression and correction of mucopolysaccharidosis type I in animal models. " 10/01/2015 - "Mucopolysaccharidosis type I is a rare autosomal recessive disorder caused by deficiency of α-l-iduronidase (IDUA) which leads to a wide spectrum of clinical severity. " 01/01/2015 - "Mucopolysaccharidosis type I (MPS I) is a progressive disorder caused by deficiency of α-L-iduronidase (IDUA), which leads to storage of heparan and dermatan sulphate. "
4.	idursulfaseFDA Link 01/01/2014 - "The effect of recombinant human iduronate-2-sulfatase (Idursulfase) on growth in young patients with mucopolysaccharidosis type II." 11/01/2013 - "[Efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II with and without comparison to placebo: systematic review and meta-analysis]." 01/01/2012 - "We present a 3-year follow-up of a boy with mucopolysaccharidosis type II (MPS II) who had idursulfase therapy initiated at the age of 3 months and compare his clinical course to his healthy twin brother. " 06/01/2011 - "To evaluate the occurrence of infusion-related reactions (IRRs) in patients with mucopolysaccharidosis type II (MPS II) receiving idursulfase enrolled in the observational database HOS - the Hunter Outcome Survey. " 10/01/2010 - "To use our experience with patients in the observational database HOS - the Hunter Outcome Survey - to evaluate the feasibility of home infusions of idursulfase for patients with mucopolysaccharidosis type II (MPS II). "
5.	Heparitin Sulfate (Heparan Sulfate)IBA 09/15/2015 - "Butanolysis derivatization: improved sensitivity in LC-MS/MS quantitation of heparan sulfate in urine from mucopolysaccharidosis patients." 04/01/2012 - "Our previous studies in mucopolysaccharidosis type IIIB (MPSIIIB), a disease in which a genetic defect induces the accumulation of undigested heparan sulfate (HS) fragments, led to the hypothesis that abnormal lysosome formation was related to events occurring at the Golgi level. " 09/15/2015 - "Heparan sulfate (HS) is a complex oligosaccharide that is a marker of a number of diseases, most notably several of the mucopolysaccharidoses (MPS). " 02/27/2015 - "Heparan sulfate saccharides modify focal adhesions: implication in mucopolysaccharidosis neuropathophysiology." 09/01/2014 - "Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses."
6.	EnzymesIBA 11/01/2015 - "Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI." 04/01/2015 - "Mucopolysaccharidoses (MPS) are inherited metabolic disorders that arise from a complete loss or a reduction in one of eleven specific lysosomal enzymes. " 02/01/2015 - "Mucopolysaccharidoses (MPS) are a family of lysosomal disorders caused by mutations in genes that encode enzymes involved in the catabolism of glycoaminoglycans. " 11/01/2014 - "Mucopolysaccharidoses (MPS) are inborn metabolic disorders caused by a deficiency of glycosaminoglycan degrading enzymes. " 01/01/2014 - "The mucopolysaccharidoses (MPSs) are a group of rare genetic disorders of glycosaminoglycan catabolism, caused by a deficiency of lysosomal enzymes required for GAG degradation. "
7.	dimethylmethylene blueIBA 04/01/1991 - "In contrast, the quantitative dimethylmethylene blue test (Clin Chem 1989;35:1472-7) detected an increased glycosaminoglycan content in all urine samples from mucopolysaccharidosis patients and gave no false-positive results. " 07/01/2004 - "Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests." 01/01/2001 - "The diagnosis of a mucopolysaccharidosis (MPS) can be achieved by non-enzymatic screening methods, including two-dimensional electrophoresis (2-D EP), and the dimethylmethylene blue (DMB) method. " 01/01/2001 - "Diagnostic screening for mucopolysaccharidoses by the dimethylmethylene blue method and two dimensional electrophoresis." 06/01/1992 - "Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue."
8.	N-Acetylgalactosamine-4-Sulfatase (Arylsulfatase B)IBA 05/01/2004 - "To evaluate the safety and efficacy of weekly treatment with human recombinant N-acetylgalactosamine 4-sulfatase (rhASB) in humans with mucopolysaccharidosis type VI (MPS VI). " 02/01/2010 - "Apparent homozygosity for the mutation p.R315X present on exon 5 of the arylsulfatase B (ARSB) gene in a mucopolysaccharidosis type VI patient was solved in this study by further testing for a second mutation. " 12/07/2015 - "Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI." 06/15/2015 - "Mucopolysaccharidosis type VI can be screened by measuring the lysosomal arylsulfatase B (ARSB) residual enzyme activity in dried blood spots (DBS) using synthetic substrates. " 01/01/2015 - "Deletion of exon 4 in the N-acetylgalactosamine-4-sulfatase gene in a Taiwanese patient with mucopolysaccharidosis type VI."
9.	Lysergic Acid Diethylamide (LSD)IBA 01/01/2009 - "Studies in dogs with mucopolysaccharidosis (MPS) Type 1 have shown that this approach enables widespread distribution of the recombinant protein within the brain, leading to a reduction in LSD pathology. " 06/01/2015 - "HSCT in LSD, the majority performed in patients with mucopolysaccharidoses and leukodystrophies, is associated with remarkably high rates of engraftment and survival. " 07/01/2010 - "LSDs were diagnosed in 74/248 patients (30%), and mucopolysaccharidosis was the most frequently observed LSD (28/74; 38%). " 01/01/2012 - "To gain insight into abnormal functions occurring secondary to a single gene defect, whole transcriptome analysis was used to identify molecular and cellular pathways that are dysregulated in the brain in a mouse model of a lysosomal storage disorder (LSD) (mucopolysaccharidosis [MPS] VII). " 01/01/2011 - "Mucopolysaccharidoses (MPS) are inherited metabolic diseases from the group of lysosomal storage disorders (LSD). "
10.	GALNS deficiencyIBA 12/07/2015 - "Treatments have been developed for mucopolysaccharidoses IVA (MPS IVA) and MPS VI suggesting the need for eventual newborn screening. " 12/01/2015 - "Mucopolysaccharidosis IVA (MPS IVA) is a multisystemic storage disorder. " 08/01/2015 - "Morquio A syndrome (mucopolysaccharidosis IVA; MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficient N-acetylgalactosamine-6-sulphatase (GALNS) activity. " 08/01/2014 - "Musculoskeletal involvement in Morquio A syndrome (mucopolysaccharidosis IVA; MPS IVA) contributes significantly to morbidity and mortality. " 12/10/2013 - "Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). "

Therapies and Procedures

1.	Enzyme Replacement Therapy 01/01/2015 - "There is currently no effective treatment of mucopolysaccharidosis type III, though ongoing researches of gene, substrate reduction and intrathecal enzyme replacement therapies expect getting curative method to alter devasting damage of central nervous system in near future." 01/01/2015 - "The authors describe the first mother-infant pair to complete an on-going, prospective, open-label, Phase 4 trial (ALIU) UU3, NCT00418821) determining the safety of laronidase enzyme replacement therapy (ERT) in pregnant women with mucopolysaccharidosis type I (MPS I) and their breastfed infants. " 11/01/2014 - "Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study." 08/01/2014 - "This study explores the neurological and magnetic resonance imaging findings in a sample of mucopolysaccharidosis type VI patients receiving enzyme-replacement therapy. " 10/31/2013 - "The objective of this study is to evaluate the response of the musculoskeletal system to enzyme replacement therapy in a group of patients with Mucopolysaccharidosis (MPS). "
2.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 02/01/2014 - "Enzyme augmentation therapy enhances the therapeutic efficacy of bone marrow transplantation in mucopolysaccharidosis type II mice." 06/01/1998 - "The purpose of the study was to provide longer follow-up of ocular findings in patients with mucopolysaccharidoses (MPS) after bone marrow transplantation (BMT). " 03/05/2015 - "Neonatal bone marrow transplantation prevents bone pathology in a mouse model of mucopolysaccharidosis type I." 12/01/2009 - "Four successful pregnancies in a patient with mucopolysaccharidosis type I treated by allogeneic bone marrow transplantation." 06/01/2004 - "Recognition of precocious excessive growth in a mucopolysaccharidosis enables an early diagnosis, the prime responsibility of the clinician, in order to propose early treatment like bone marrow transplantation or active recombinant sulphatase therapy, and appropriate genetic counselling."
3.	Intravenous Infusions 02/19/2007 - "Treatment with 0.5 mg/kg of idursulfase in weekly intravenous infusions is usually well tolerated and seems to improve the somatic symptoms in patients with mucopolysaccharidosis type II." 01/01/2009 - "Recombinant human alpha-l-iduronidase (Aldurazyme), laronidase) is approved as an enzyme replacement therapy to treat the lysosomal storage disorder, mucopolysaccharidosis type I (MPS I) at a dose of 0.58 mg/kg by once-weekly intravenous infusion. " 01/01/2014 - "Enzyme replacement therapy with intravenous infusions of idursulfase has emerged as a new treatment for mucopolysaccharidosis type II. To evaluate the effectiveness and safety of enzyme replacement therapy with idursulfase compared to other interventions, placebo or no intervention, for treating mucopolysaccharidosis type II. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Register (date of last search 22 July 2013).We also searched EMBASE, PubMed and the Literature Latino-Americana e do Caribe em Ciências da Saúde (LILACS) (date of last search 09 July 2013). " 01/01/2011 - "Enzyme replacement therapy with intravenous infusions of idursulfase has emerged as a new treatment for mucopolysaccharidosis type II. To evaluate the effectiveness and safety of enzyme replacement therapy with idursulfase compared to other interventions, placebo or no intervention, for treating mucopolysaccharidosis type II. We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Register (date of last search 01 September 2011).We also searched EMBASE, PubMed and the Literature Latino-Americana e do Caribe em Ciências da Saúde (LILACS) (date of last search October 2009). "
4.	Cell Transplantation 06/01/2015 - "Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines." 12/09/2010 - "Gene therapy augments the efficacy of hematopoietic cell transplantation and fully corrects mucopolysaccharidosis type I phenotype in the mouse model." 09/01/2012 - "An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell transplantation (HCT)." 02/01/2015 - "In utero hematopoietic cell transplantation (IUHCT) has been performed in Mucopolysaccharidosis Type VII (MPSVII) mice, but a lifelong engraftment of allogeneic donor cells has not been achieved. " 05/01/2014 - "Tissue from epicardial coronary arteries from autopsies of four patients with non-Hurler mucopolysaccharidosis (attenuated type I, type IIIA, type IIIC, and type VI) who had died after hematopoietic cell transplantation (within 1 month in three cases; after 5 years in the fourth) was examined by light microscopy. "
5.	Hematopoietic Stem Cell Transplantation 06/01/2011 - "The introduction of hematopoietic stem cell transplantation (HSCT) has significantly improved the life-span of Hurler patients (mucopolysaccharidosis type I-H, MPS I-H). " 11/01/2012 - "Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan." 01/01/2013 - "Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure." 11/01/2012 - "To objectively determine changes in sensorineural hearing in children with mucopolysaccharidosis (MPS) by comparing audiological data before and after hematopoietic stem cell transplantation (HSCT). " 12/01/2008 - "[Treatment of 2 children with mucopolysaccharidosis by allogeneic hematopoietic stem cell transplantation]."