Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres

Vellodi, Ashok; Young, Elisabeth; Cooper, Alan; Wraith, J. Edmond; Winchester, Bryan; Meaney, Cathy; Ramaswami, Uma; Will, Andrew

doi:10.1136/adc.76.2.92

Cited by 191 publications

(157 citation statements)

References 20 publications

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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

126

193

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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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Section: Introductionmentioning

confidence: 99%

The ocular features of the mucopolysaccharidoses

Ashworth

Biswas

Wraith

et al. 2005

Eye

126

193

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“…Since enzyme replacement therapy (ERT) is not capable of crossing the blood-brain barrier, HSC transplantation is the treatment of choice for Hurler syndrome. Clinical outcomes include reversal of organomegaly, preservation of neurocognitive development, and improved hearing, vision, and cardiopulmonary function in most transplanted patients (Guffon et al 1998;Whitley et al 1993;Shapiro et al 1995;Peters et al 1996;Vellodi et al 1997;Peters et al 1998;Souillet et al 2003;Aldenhoven et al 2008;Malm et al 2008). However, outcomes are highly variable, and manifestations in certain organ systems continue to progress.…”

Section: Introductionmentioning

confidence: 99%

Long-Term Functional Outcomes of Children with Hurler Syndrome Treated with Unrelated Umbilical Cord Blood Transplantation

et al. 2014

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Objectives: Hurler syndrome is characterized by progressive multisystem deterioration leading to early death in childhood. This prospective study evaluated the longterm outcomes of patients with Hurler syndrome who underwent umbilical cord blood transplantation from unrelated donors.Study design: Only patients with Hurler syndrome who underwent umbilical cord blood transplantation between December 1995 and March 2006 (n ¼ 25) and who were followed for at least 5 years (n ¼ 19) were included in the analysis. The patients were longitudinally evaluated by a multidisciplinary team of specialists following a standardized protocol.Results: Median age at transplantation was 15.9 months (range 2.1-35), and patients were followed up until a median age of 10

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“…While many studies have examined long-term growth for other conditions following HSCT, [22][23][24][25][26][27][28] there are few growth data specific to patients with MPS IH. 17,19 Even less is known about endocrine function in patients with MPS IH after HSCT. One study of five children by Vellodi et al 17 found two had primary ovarian failure, one had sexual infantilism and two had normal pubertal development.…”

Section: Introductionmentioning

confidence: 99%

“…17,19 Even less is known about endocrine function in patients with MPS IH after HSCT. One study of five children by Vellodi et al 17 found two had primary ovarian failure, one had sexual infantilism and two had normal pubertal development. We performed a retrospective chart review of all of our patients with MPS IH who received HSCT at the University of Minnesota between 1983 and 2005, primarily to characterize growth patterns, but also to begin to address the question of endocrine function in these patients.…”

Section: Introductionmentioning

confidence: 99%

“…3,4 Currently, most children with MPS IH are treated with hematopoietic stem cell transplantation (HSCT). [16][17][18][19][20] HSCT as an intervention, however, compounds the problem of short stature. HSCT has been associated with growth suppression, growth hormone (GH) deficiency, abnormal gonadal and thyroid function, and damage to the epiphyseal growth plate and pituitary gland, [21][22][23][24][25][26][27][28][29] all potential causes of short stature.…”

Section: Introductionmentioning

confidence: 99%

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Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation

Polgreen

Tolar

Plog

et al. 2008

Bone Marrow Transplant

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Short stature is characteristic of Hurler syndrome, or mucopolysaccharidosis type IH (MPS IH). Hematopoietic stem cell transplantation (HSCT) is used to treat children with MPS IH. While HSCT corrects some of the metabolic features of MPS IH, its effects on growth are not well delineated. We investigated growth in patients with MPS IH after HSCT and described accompanying endocrine abnormalities. A cohort of 48 patients with MPS IH who had received HSCT between 1983 and 2005 were included. The prevalence of short stature (height oÀ2 s.d. score, SDS) before HSCT was 9%, and increased to 71% at last follow-up (6.9±5.1 years after HSCT). Short stature was positively associated with increased age at HSCT (P ¼ 0.002) and TBI (P ¼ 0.009). In total, 23% had growth hormone deficiency and/or low insulin-like growth factor-1, one female patient had premature adrenarche, one precocious puberty and 27% had clinical or subclinical hypothyroidism. Growth failure is highly prevalent in children with MPS IH after HSCT. Children who had no TBI exposure and were younger at the time of HSCT had a better height outcome.

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Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres

Abstract: (Arch Dis Child 1997;76:92-99)

Cited by 191 publications

References 20 publications

The ocular features of the mucopolysaccharidoses

The ocular features of the mucopolysaccharidoses

Long-Term Functional Outcomes of Children with Hurler Syndrome Treated with Unrelated Umbilical Cord Blood Transplantation

Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation

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