Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age

Lampe, Christina; Atherton, Andrea M.; Burton, Barbara K.; Descartes, Maria; Giugliani, Roberto; Horovitz, Dafne Dain Gandelman; Kyosen, Sandra Obikawa; Magalhães, Tatiana S.P.C.; Martins, Ana María; Mendelsohn, Nancy J.; Muenzer, Joseph; Smith, Laurie D.

doi:10.1007/8904_2013_289

Cited by 42 publications

(34 citation statements)

References 25 publications

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“…In the eye, mucopolysaccharidosis type VI is manifested by corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy (Pitz et al, 2009). Enyzme replacement therapy with idursulfase is approved for human use and is reported to be largely efficacious (Lampe et al, 2014). Hematopoietic cell transplantation (Aldenhoven et al, 2015) is also efficacious, and gene therapy is being developed (Ferla et al, 2015).…”

Section: Other Autophagy ‘Eye Disease Genes’ Of the Ocular Surfacementioning

confidence: 99%

Lacritin and other autophagy associated proteins in ocular surface health

Karnati

Talla²,

Peterson³

et al. 2016

Experimental Eye Research

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Advantage may be taken of macroautophagy (‘autophagy’) to promote ocular health. Autophagy continually captures aged or damaged cellular material for lysosomal degradation and recyling. When autophagic flux is chronically elevated, or alternatively deficient, health suffers. Chronic elevation of flux and stress are the consequence of inflammatory cytokines or of dry eye tears but not normal tears in vitro. Exogenous tear protein lacritin transiently accelerates flux to restore homeostasis in vitro and corneal health in vivo, and yet the monomeric active form of lacritin appears to be selectively deficient in dry eye. Tissue transglutaminase-dependent cross-linking of monomer decreases monomer quantity and monomer affinity for coreceptor syndecan-1 thereby abrogating activity. Tissue transglutaminase is elevated in dry eye. Mutation of arylsulfatase A, arylsulfatase B, ceroid-lipofuscinosisneuronal 3, mucolipin, or Niemann-Pick disease type C1 respectively underlie several diseases of apparently insufficient autophagic flux that affect the eye, including: metachromatic leukodystrophy, mucopolysaccharidosis type VI, juvenile-onset Batten disease, mucolipidosis IV, and Niemann-Pick type C associated with myelin sheath destruction of corneal sensory and ciliary nerves and of the optic nerve; corneal clouding, ocular hypertension, glaucoma and optic nerve atrophy; accumulation of ‘ceroid-lipofuscin’ in surface conjunctival cells, and in ganglion and neuronal cells; decreased visual acuity and retinal dystrophy; and neurodegeneration. For some, enzyme or gene replacement, or substrate reduction, therapy is proving to be successful. Here we discuss examples of restoring ocular surface homeostasis through alteration of autophagy, with particular attention to lacritin.

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Section: Other Autophagy ‘Eye Disease Genes’ Of the Ocular Surfacementioning

confidence: 99%

Lacritin and other autophagy associated proteins in ocular surface health

Karnati

Talla²,

Peterson³

et al. 2016

Experimental Eye Research

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“…With a range of severity, patients often appear normal at birth and progressively display symptoms of the disease [1,2]. Age at symptom onset is variable, as is the primary presenting symptom; however severe patients are generally diagnosed earlier in life [3].…”

Section: Introductionmentioning

confidence: 99%

Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II

Yund

Rudser

Ahmed

et al. 2015

Molecular Genetics and Metabolism

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The phenotype of attenuated mucopolysaccharidosis type II (MPS II), also called Hunter syndrome, has not been previously studied in systematic manner. In contrast to the “severe” phenotype, the “attenuated” phenotype does not present with behavioral or cognitive impairment; however the presence of mild behavior and cognitive impairment that might impact long term functional outcomes is unknown. Previously, significant MRI abnormalities have been found in MPS II. Recent evidence suggests white matter abnormalities in many MPS disorders. Methods As the initial cross-sectional analysis of a longitudinal study, we studied the association of brain volumes and somatic disease burden with neuropsychological outcomes, including measures of intelligence, memory and attention in 20 patients with attenuated MPS II with a mean age of 15.8. MRI volumes were compared to 55 normal controls. Results While IQ and memory were average, measures of attention were one standard deviation below the average range. Corpus callosum volumes were significantly different from age-matched controls, differing by 22%. Normal age-related volume increases in white matter were not seen in MPS II patients as they were in controls. Somatic disease burden and white matter and corpus callosum volumes were significantly associated with attention deficits. Neither age at evaluation nor age at starting treatment predicted attention outcomes. Conclusions Despite average intelligence, attention is compromised in attenuated MPS II. Results confirm an important role of corpus callosum and cortical white matter abnormality in MPS II as well as the somatic disease burden in contributing to attention difficulties. Awareness by the patient and caregivers with appropriate management and symptomatic support will benefit the attenuated MPS II patient.

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“…In addition, sibling studies have demonstrated that early commencement of ERT is more effective than delayed therapy [8][9][10]. However, there have been few studies of ERT in young children with Hunter syndrome, with only case series published [11,12]. that its safety and efficacy profile was similar to that observed in older patients [13].…”

Section: Introductionmentioning

confidence: 96%