Enzyme Replacement Therapy in the Home Setting for Mucopolysaccharidosis VI

Tifft, Cynthia J.; Proud, Virginia K.; Levy, Paul A.; DeMarco, Kristin Alice; Nicely, Helen; Turbeville, Sean

doi:10.1097/nan.0b013e31819228ee

Cited by 6 publications

(1 citation statement)

References 8 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

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272

296

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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

Self Cite

272

296

View full text Add to dashboard Cite

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Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region

Hwu¹,

Okuyama²,

But³

et al. 2012

Molecular Genetics and Metabolism

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Lysosomale Speichererkrankungen: Herausforderungen bei der sektorübergreifenden, multiprofessionellen Patientenversorgung mit Enzymersatztherapie

Lagler¹,

Beck

Scarpa

et al. 2017

Klin Padiatr

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Due to their rarity studies in (ultra-) rare diseases are difficult. Only for a minority of these diseases causal therapies are available. Development and production of enzyme replacement therapies (ERT) for example are challenging and expensive. The number of patients is low, costs per patient are high. We will focus on the challenges of providing long-term ERT to patients with lysosomal storage diseases (LSD) in an out- and inpatient setting based on a literature search in Pubmed and own experience. Many ERTs for LSDs have a positive cost-benefit ratio. Possible side-effects are severe allergic reactions. ERT is covered by the insurance companies when prescribed by a physician, however they are liable to recourse by the insurance company as the expenses for drugs of the prescribing physician will be above average. In most cases the recourse can be averted if diagnoses of individual patients are disclosed. Intravenous infusion of ERT is not well-regulated in Germany/Austria. Infusion on a ward is safe however often not covered by the insurance companies as patients do not stay overnight. Another option is infusion in a day-care setting, however the lump sum paid for infusion does not cover costs for ERT. On an individual basis, reimbursement for medication (ERT) has to be negotiated with the insurance companies before infusion takes place. Home infusions are feasible, however careful evaluations of the infusion-team and the risk for side-effects have to be performed on an individual basis, legal issues have to be considered. In- and outpatient ERT of patients with LSDs is challenging but feasible after individual evaluation of patient and infusion team.

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Enzyme Replacement Therapy in the Home Setting for Mucopolysaccharidosis VI

Cited by 6 publications

References 8 publications

Mucopolysaccharidosis VI

Mucopolysaccharidosis VI

Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region

Lysosomale Speichererkrankungen: Herausforderungen bei der sektorübergreifenden, multiprofessionellen Patientenversorgung mit Enzymersatztherapie

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