Enzyme-Replacement Therapy in Mucopolysaccharidosis I

Kakkis, Emil; Muenzer, Joseph; Tiller, George E.; Waber, Lewis; Belmont, John W.; Passage, Merry; Izykowski, Barbara; Phillips, J. Duncan; Doroshow, Robin Winkler; Walot, Irv; Hoft, Richard H.; Yu, Kian Ti; Okazaki, Susie; Lewis, Dave; Lachman, Ralph S.; Thompson, Jack; Neufeld, Elizabeth F.

doi:10.1056/nejm200101183440304

Cited by 616 publications

(487 citation statements)

References 21 publications

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“…With advances in enzyme replacement therapy (ERT), there are increased survival rates amongst MPS1 patients (Kakkis et al 2001). ERT for Morquio patients is still undergoing clinical trials but in vitro studies and animal models are providing promising insights (Dvorak-Ewell et al 2010).…”

Section: Introductionmentioning

confidence: 99%

Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients

et al. 2012

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Section: Introductionmentioning

confidence: 99%

Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients

et al. 2012

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“…However, modern treatments including bone marrow transplantation (BMT) and enzyme replacement therapy (ERT) in MPS I can result in a longer and better quality life for many patients. [18][19][20] ERT is currently licensed for use in MPS I (as Laronidase) and is undergoing clinical trials for use in MPS II and VI. ERT improves respiratory function, endurance, joint mobility, growth (in prepubertal patients), and hair and facial appearance in MPS I.…”

Section: Introductionmentioning

confidence: 99%

The ocular features of the mucopolysaccharidoses

Ashworth

Biswas

Wraith

et al. 2005

Eye

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Aims The mucopolysaccharidoses (MPS) are a heterogeneous group of rare disorders characterised by accumulation of glycosaminoglycans within multiple organ systems. This study aimed to determine the prevalence and severity of ocular complications in patients with MPS. Methods Clinical ophthalmic features and electrodiagnostic results of 50 patients with a diagnosis of MPS were retrospectively reviewed. Results A total of 79% of MPS IH patients had a visual acuity of less than 6/12 equivalent in their better eye, compared to 44% of MPS IH/S and 25% of MPS VI patients. In total, 16% of MPS IH and 25% of MPS IH/S had severe corneal opacification, compared to 38% of MPS VI patients. 16% of MPS IH patients had optic atrophy; 21% of MPS VI patients had mild disc swelling, 29% had markedly swollen discs, and 14% had optic atrophy. One patient with MPS IH, one with MPS IH/S and six with MPS VI had ocular hypertension. One MPS VI patient had glaucoma that required topical therapy. Nine patients with MPS IH had electrodiagnostic evidence of retinopathy, as did one MPS VI patient. Conclusions Ocular complications causing significant reduction in vision are common in MPS. The majority of MPS I and MPS VI patients have corneal opacification, which can lead to difficulties in diagnosis and monitoring of glaucoma, optic disc changes, and retinopathy.

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“…Il est sans doute artificiel, comme pour les variants cardiaques et rénaux de la maladie de Fabry, de vouloir séparer en deux affections distinctes les deux pôles d'un large spectre clinique avec, au milieu, le « phénotype Hurler-Scheie », qui emprunte des manifestations cliniques à la forme la plus grave et à la forme dite atténuée. Le premier essai clinique pour la mucopolysaccharidose de type 1 fut conduit par Emil Kakkis, dans le groupe d'Elisabeth Neufeld [17]. Cet essai monocentrique a porté sur 10 malades, pour la plupart atteints de la forme intermédiaire ou maladie de Hurler-Scheie (MPS-IHS) car, les enzymes recombinantes ne pouvant pas franchir la barrière hématoencéphalique, des résultats thérapeutiques modestes sont attendus en cas d'atteinte du système nerveux central avec retard mental, comme c'est le cas dans la maladie de Hurler (MPS IH).…”

Section: Mucopolysaccharidose De Type I (Mps I)unclassified

“…Les résultats furent favorables avec diminution sous traitement de l'excrétion urinaire des glycosaminoglycanes, accompagnée d'une réduction de la splénomégalie ainsi que du volume hépatique mesurés par échographie. L'amplitude d'abduction des épaules s'est par ailleurs accrue participant à une amélioration de la qualité de vie de l'enfant [17]. Un essai international multicentrique (cinq centres répartis dans trois pays) a ensuite inclus 45 malades âgés de plus de cinq ans atteints de MPS I.…”

Section: Mucopolysaccharidose De Type I (Mps I)unclassified