Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome)

Silva, Edina MK da; Strufaldi, Maria Wany Louzada; Andriolo, Régis B; Silva, Laercio A

doi:10.1002/14651858.cd008185

Cited by 4 publications

(6 citation statements)

References 12 publications

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“…These include two previous SERs of ERT studies. 2,16 Outcomes of ERT with IV idursulfase infusion FDA approval of Elaprase was based on one industrysponsored RCT. 17 The literature search identified 24 additional studies having some quantitative data on 12 outcomes of ERT ( Table 1).…”

Section: Resultsmentioning

confidence: 99%

“…19,35,36 This effect of ERT in the large RCT 17 has also been reported as the mean difference of − 207.4 (95% CI − 284.8 to − 129.9) between uGAG levels in treatment (0.5 mg/kg/week) and placebo arms at 1 year. 2,16,17 The benefit of uGAG reduction was ranked as moderate SOE, based on an early effect in all studies (e.g., 3-4 months), consistent large effect size and direction, precision, generalizability to varying subpopulations of MPSII patients, and an observed dosage gradient. Although sometimes referred to as an "efficacy" variable, 21,22,24,33 decreasing excretion of uGAGs directly demonstrates the functional capacity of the infused enzyme to degrade GAGs, a critical initial observation.…”

Section: Urinary Glycosaminoglycan Levelsmentioning

confidence: 99%

“…1 Deficiency of this enzyme results in accumulation of glycosaminoglycans (i.e., dermatan and heparan sulfates) in almost all cells, tissues, and organs, with resulting enlargement of cells and disruption of normal cell physiology. 1,2 Affected individuals are almost always male, but symptomatic carrier females have been reported. 1,2 MPSII has been identified in 0.3 to 1.3 per 100,000 live born males in mainly white populations [3][4][5][6] and about 2 per 100,000 in Taiwan.…”

Section: Introductionmentioning

confidence: 99%

“…1,2 Affected individuals are almost always male, but symptomatic carrier females have been reported. 1,2 MPSII has been identified in 0.3 to 1.3 per 100,000 live born males in mainly white populations [3][4][5][6] and about 2 per 100,000 in Taiwan. 7 MPSII is characterized by significant clinical heterogeneity related to phenotype (i.e., continuum from severe to attenuated) and genotype (i.e., more than 450 unique IDS mutations).…”

Section: Introductionmentioning

confidence: 99%

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Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review

Bradley

Haddow²,

Palomaki

2017

Genetics in Medicine

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PurposeA pilot systematic evidence review to establish methodology utility in rare genetic diseases, support clinical recommendations, and identify important knowledge gaps.MethodsBroad-based published/gray-literature searches through December 2015 for studies of males with confirmed mucopolysaccharidosis type II (any age, phenotype, genotype, family history) treated with enzyme replacement therapy or hematopoietic stem cell transplantation. Preset inclusion criteria employed for abstract and full document selection, and standardized methods for data extraction and assessment of quality and strength of evidence.ResultsTwelve outcomes reported included benefits of urinary glycosaminoglycan and liver/spleen volume reductions and harms of immunoglobulin G/neutralizing antibody development (moderate strength of evidence). Less clear were benefits of improved 6-minute walk tests, height, early treatment, and harms of other adverse reactions (low strength of evidence). Benefits and harms of other outcomes were unclear (insufficient strength of evidence). Current benefits and harms of hematopoietic stem cell transplantation are unclear, based on dated, low-quality studies. A critical knowledge gap is long-term outcomes. Consensus on selection of critical outcomes and measures is needed to definitively evaluate treatment safety and effectiveness.ConclusionMinor methodology modifications and a focus on critical evidence can reduce review time and resources. Summarized evidence was sufficient to support guidance development and highlight important knowledge gaps.

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Section: Resultsmentioning

confidence: 99%

Section: Urinary Glycosaminoglycan Levelsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review

Bradley

Haddow²,

Palomaki

2017

Genetics in Medicine

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“…If in case patients develop any Infusionrelated reactions like rashes, fever, pruritis, angioedema, respiratory distress, or urticaria then immediately the rate of infusion should be decreased and antihistamines should be administered. [15][16][17] Total volume should be infused over 3 hours starting at a rate of 8 ml/hour and incrementing every 15 minutes, but the rate should not exceed 100 ml/hour. Infusionrelated reactions are common therefore pretreatment with antihistamines and antipyretics should be given.…”

Section: Enzyme Therapymentioning

confidence: 99%

Mucopolysaccharidosis: An overview and new treatment modalities

Atre

Shivakumar

et al. 2023

IJCBR

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Mucopolysaccharidosis is a lysosomal storage disorder, caused due to deficiency of enzymes required for the breakdown of Mucopolysaccharides. These undegraded Mucopolysaccharides accumulate in various tissues and cause characteristic features like neurological deficit, impaired motor function, developmental delay, hearing loss, behavioral problems, corneal clouding, glaucoma, respiratory distress, coarse facial features, skeletal deformities, and organomegaly. Based on deficient enzymes they have divided into subtypes Mucopolysaccharidosis I (MPS I) Hunter syndrome (I H / I HS / I S), Mucopolysaccharidosis II(MPS II) Hunter syndrome (severe and mild form), Mucopolysaccharidosis III (MPS III) Sanfilippo syndrome, Mucopolysaccharidosis IV(MPS IV) Morquio syndrome, Mucopolysaccharidosis VI(MPS VI) Maroteaux Lamy syndrome, Mucopolysaccharidosis VI (MPS VII) Sly syndrome. Diagnosis is classically based on clinical examination and urine analysis. Enzyme assay can also aid in diagnosis. Chorionic villi sampling and amniocentesis are also becoming popular. The main objective of treatment is to improve the quality of life. Symptomatic management includes daily exercise, physiotherapy, tonsillectomy, shunting surgery, and corneal transplantation. There are various recent concepts utilized for the treatment of Mucopolysaccharidosis. This review article emphasizes such treatment aspects as Hematopoietic stem cell therapy, Enzyme replacement therapy, Gene therapy, Nano-enabled therapy, and Substrate reduction therapy.

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Mucopolysaccharidosis II

2012

Atlas of Genetic Diagnosis and Counseling

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Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome)

Abstract: Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).

Cited by 4 publications

References 12 publications

Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review

Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review

Mucopolysaccharidosis: An overview and new treatment modalities

Mucopolysaccharidosis II

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