Home infusion therapy is safe and enhances compliance in patients with mucopolysaccharidoses

Burton, Barbara K.; Wiesman, Chani; Paras, Andrea; Kim, Katherine; Katz, Rachel

doi:10.1016/j.ymgme.2009.04.007

Cited by 23 publications

(12 citation statements)

References 7 publications

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“…Furthermore, care should be taken when considering administration of prophylactic antihistamines for the prevention of infusion-associated reactions to ERT since diphenhydramine may result in serious sleep apnea (USPI). Recently, patients with less severe symptoms and absent infusion-related reactions have been treated in the home setting [108-110]. Although this treatment option may provide improved convenience for some patients, it is clearly a decision that patient, parent(s) or guardian(s) and treating physician will need to make together, recognizing the risks of possible allergic reaction and possible need for placement of permanent central venous access (i.e., mediport).…”

Section: Managementmentioning

confidence: 99%

Mucopolysaccharidosis VI

Valayannopoulos¹,

Nicely

Harmatz³

et al. 2010

Orphanet J Rare Dis

272

309

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Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease. Rapidly progressing forms may have onset from birth, elevated urinary glycosaminoglycans (generally >100 μg/mg creatinine), severe dysostosis multiplex, short stature, and death before the 2nd or 3rd decades. A more slowly progressing form has been described as having later onset, mildly elevated glycosaminoglycans (generally <100 μg/mg creatinine), mild dysostosis multiplex, with death in the 4th or 5th decades. Other clinical findings may include cardiac valve disease, reduced pulmonary function, hepatosplenomegaly, sinusitis, otitis media, hearing loss, sleep apnea, corneal clouding, carpal tunnel disease, and inguinal or umbilical hernia. Although intellectual deficit is generally absent in MPS VI, central nervous system findings may include cervical cord compression caused by cervical spinal instability, meningeal thickening and/or bony stenosis, communicating hydrocephalus, optic nerve atrophy and blindness. The disorder is transmitted in an autosomal recessive manner and is caused by mutations in the ARSB gene, located in chromosome 5 (5q13-5q14). Over 130 ARSB mutations have been reported, causing absent or reduced arylsulfatase B (N-acetylgalactosamine 4-sulfatase) activity and interrupted dermatan sulfate and chondroitin sulfate degradation. Diagnosis generally requires evidence of clinical phenotype, arylsulfatase B enzyme activity <10% of the lower limit of normal in cultured fibroblasts or isolated leukocytes, and demonstration of a normal activity of a different sulfatase enzyme (to exclude multiple sulfatase deficiency). The finding of elevated urinary dermatan sulfate with the absence of heparan sulfate is supportive. In addition to multiple sulfatase deficiency, the differential diagnosis should also include other forms of MPS (MPS I, II IVA, VII), sialidosis and mucolipidosis. Before enzyme replacement therapy (ERT) with galsulfase (Naglazyme®), clinical management was limited to supportive care and hematopoietic stem cell transplantation. Galsulfase is now widely available and is a specific therapy providing improved endurance with an acceptable safety profile. Prognosis is variable depending on the age of onset, rate of disease progression, age at initiation of ERT and on the quality of the medical care provided.

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Section: Managementmentioning

confidence: 99%

Mucopolysaccharidosis VI

Valayannopoulos¹,

Nicely

Harmatz³

et al. 2010

Orphanet J Rare Dis

272

309

View full text Add to dashboard Cite

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“…Although 'homecare' is not provided in all countries in Europe, it has been associated with increased patient adherence compared with receiving infusions in hospital, and patients and families often report improved quality of life [39-41]. Safety is the primary consideration when providing ERT in the home setting, and strict protocols have been developed to manage the transition from hospital to home care (Figure 4) [42].…”

Section: Disease-specific Approaches To Treating Mps IImentioning

confidence: 99%

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

Scarpa

Almássy

Beck

et al. 2011

Orphanet J Rare Dis

201

220

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Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological changes in multiple body systems. Age at onset, signs and symptoms, and disease progression are heterogeneous, and patients may present with many different manifestations to a wide range of specialists. Expertise in diagnosing and managing MPS II varies widely between countries, and substantial delays between disease onset and diagnosis can occur. In recent years, disease-specific treatments such as enzyme replacement therapy and stem cell transplantation have helped to address the underlying enzyme deficiency in patients with MPS II. However, the multisystem nature of this disorder and the irreversibility of some manifestations mean that most patients require substantial medical support from many different specialists, even if they are receiving treatment. This article presents an overview of how to recognise, diagnose, and care for patients with MPS II. Particular focus is given to the multidisciplinary nature of patient management, which requires input from paediatricians, specialist nurses, otorhinolaryngologists, orthopaedic surgeons, ophthalmologists, cardiologists, pneumologists, anaesthesiologists, neurologists, physiotherapists, occupational therapists, speech therapists, psychologists, social workers, homecare companies and patient societies.Take-home messageExpertise in recognising and treating patients with MPS II varies widely between countries. This article presents pan-European recommendations for the diagnosis and management of this life-limiting disease.

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“…Idursulfase is administered intravenously on a weekly basis in the hospital setting. Some Hunter syndrome patients have been reported to have received infusions at home; this is only undertaken after a lengthy screening process and is not available in all countries [2–4, 14, 21]. The approval of idursulfase was based on data from the pivotal clinical trial, which demonstrated that 1 year of weekly infusions of 0.5 mg/kg significantly improved the primary endpoint, a composite comprising changes in distance walked in 6 min and changes in percent-predicted forced vital capacity (FVC) compared to placebo [25].…”

Section: Management and Treatment Of Severe Hunter Syndromementioning

confidence: 99%

The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus

et al. 2011

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Intravenous enzyme replacement therapy (ERT) with idursulfase for Hunter syndrome has not been demonstrated to and is not predicted to cross the blood–brain barrier. Nearly all published experience with ERT with idursulfase has therefore been in patients without cognitive impairment (attenuated phenotype). Little formal guidance is available on the issues surrounding ERT in cognitively impaired patients with the severe phenotype. An expert panel was therefore convened to provide guidance on these issues. The clinical experience of the panel with 66 patients suggests that somatic improvements (e.g., reduction in liver volume, increased mobility, and reduction in frequency of respiratory infections) may occur in most severe patients. Cognitive benefits have not been seen. It was agreed that, in general, severe patients are candidates for at least a 6–12-month trial of ERT, excluding patients who are severely neurologically impaired, those in a vegetative state, or those who have a condition that may lead to near-term death. It is imperative that the treating physician discuss the goals of treatment, methods of assessment of response, and criteria for discontinuation of treatment with the family before ERT is initiated. Conclusion: The decision to initiate ERT in severe Hunter syndrome should be made by the physician and parents and must be based on realistic expectations of benefits and risks, with the understanding that ERT may be withdrawn in the absence of demonstrable benefits.

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Home infusion therapy is safe and enhances compliance in patients with mucopolysaccharidoses

Cited by 23 publications

References 7 publications

Mucopolysaccharidosis VI

Mucopolysaccharidosis VI

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus

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