Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study

Franco, José Francisco da Silva; Dib, Regina El; Agarwal, Arnav; Soares, Diogo Cordeiro de Queiroz; Milhan, Noala Vicensoto Moreira; Albano, Lilian Maria José; Kim, Chong

doi:10.5582/irdr.2017.01036

Cited by 13 publications

(13 citation statements)

References 25 publications

(23 reference statements)

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“…Given these HCT outcomes combined with presumptions about the impermeable BBB, a formal randomized comparison of the efficacy of relatively newer ERT as monotherapy to that of HCT for MPS IH was never ethically possible to pursue 11 . Short-term safety studies evaluating ERT as well as longer-term case reports and case series have suggested therapeutic benefit that is less effective than HCT 12 - 14 , although long-term outcomes of ERT in larger groups, particularly those who were treated from a young age, has not been understood. ERT from birth, or at higher doses, in animal models has demonstrated efficacy in affected organ systems that are typically impervious to ERT, including the central nervous system (CNS) 15 - 17 .…”

Section: Introductionmentioning

confidence: 99%

Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison

Eisengart

Rudser

Xue

et al. 2018

Genetics in Medicine

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Purpose Early treatment is critical for mucopolysaccharidosis type I (MPS I), justifying its incorporation into newborn screening. Enzyme replacement therapy (ERT) treats MPS I, yet presumptions that ERT cannot penetrate the blood-brain barrier (BBB) support recommendations that hematopoietic cell transplantation (HCT) treat the severe, neurodegenerative form (Hurler syndrome). Ethics preclude randomized comparison of ERT to HCT, but insight into this comparison is presented with an international cohort of patients with Hurler syndrome who received long-term ERT from a young age. Methods Long-term survival and neurologic outcomes were compared among three groups of patients with Hurler syndrome: 18 treated with ERT monotherapy (ERT group), 54 who underwent HCT (HCT group), and 23 who received no therapy (Untreated). All were followed starting before age 5 years. A sensitivity analysis restricted age below 3 years. Results Survival was worse when comparing ERT versus HCT, and Untreated versus ERT. The cumulative incidences of hydrocephalus and cervical spinal cord compression were greater in ERT versus HCT. Findings persisted in the sensitivity analysis. Conclusion As newborn screening widens treatment opportunity for Hurler syndrome, this examination of early treatment quantifies some ERT benefit, supports presumptions about BBB impenetrability, and aligns with current guidelines to treat with HCT.

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Section: Introductionmentioning

confidence: 99%

Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison

Eisengart

Rudser

Xue

et al. 2018

Genetics in Medicine

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“…The participants on this research were on ERT treatment, and one of the characteristics of this treatment is the improvement in joint mobility, which may justify the lower severity of the injuries found. However, ERT is not a curative treatment, but rather a palliative treatment with the attenuation of symptoms, slowing but not preventing disease progression [7,[15][16][17].…”

Section: Discussionmentioning

confidence: 99%

Description of Functioning in Children and Adolescents with Mucopolysaccharidosis - Case series

Fleming

Ribeiro

Horovitz

et al. 2020

J. inborn errors metab. screen.

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Introduction: Rare health conditions as mucopolysaccharidoses (MPS) can directly influence functioning experiences. Mobility restriction, osteoarticular alterations, leads to delayed neuropsychomotor development are some of the negative impacts of MPS. Aims: The purpose of this study is to evaluate the functioning of children with MPS, from the International Classification of Functioning, Disability, and Health (ICF) perspective. Methodology: It is a case series study with a sample of 15 children and adolescents with MPS with a median age of 12 years, followed in a tertiary hospital in Rio de Janeiro, Brazil. Results: The patients were assessed by the model ICF and results were as following: regarding body functions, most categories presented slight impairment. For mobility of joints and gait, the impairment was severe. Activity and participation with most significant limitations were "learning to read/write", "read/write", "listening" and "performing multiple tasks." In self-care, the main limitations were in "drinking", "taking care of body parts" and "taking care of one's health." Also, there were restrictions on "doing household tasks", "basic economic transactions", "community living" and "religion and spirituality". Conclusion: MPS can have a significant impact in different body systems which act as limiting activities that require body mobility.

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“…Легкая форма заболевания характеризуется более поздним дебютом (7-10 лет и позже), при этом интеллект у пациентов не снижен или возможна умственная отсталость легкой степени. Прогноз жизни благоприятный [7,11,12]. В 2006 г. Управление по санитарному надзору за качеством пищевых продуктов и медикаментов США (Food and Drug Administration, FDA) одобрило патогенетическую ферментозаместительную терапию (ФЗТ) для МПС II препаратом Элапраза (идурсульфаза -рекомбинантная человеческая идуронат-2-сульфатаза).…”

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“…В странах Евросоюза препарат применяется с 2007 г., в России -с 2008 [13]. Эффективность идурсульфазы была подтверждена в ряде исследований [11][12][13]. Так, на фоне лечения отмечались снижение уровня гликозаминогликанов в моче, нормализация размеров печени и селезенки, стабилизация патологических изменений кардиоваскулярной системы, улучшение функции дыхательной системы, выносливости и в целом физического развития пациентов [11,12,14].…”

unclassified

“…Эффективность идурсульфазы была подтверждена в ряде исследований [11][12][13]. Так, на фоне лечения отмечались снижение уровня гликозаминогликанов в моче, нормализация размеров печени и селезенки, стабилизация патологических изменений кардиоваскулярной системы, улучшение функции дыхательной системы, выносливости и в целом физического развития пациентов [11,12,14]. Следует отметить, что ФЗТ малоэффективна для слабоваскуляризированных органов и систем (центральной нервной системы, роговицы, суставных хрящей и сердечных клапанов) [14,15].…”

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Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency

Вашакмадзе

Namazova-Baranova

Журкова

et al. 2020

Vopr. sovr. pediatr.

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Мукополисахаридоз (МПС) II типа (синдром Хантера)-наследственное заболевание из группы лизосомных болезней накопления, вызванное патологическими вариантами гена IDS. Последние приводят к дефициту фермента идуронат-2-сульфатазы и нарушению катаболизма гликозаминогликанов. Основные клинические проявления заболевания-поражение центральной нервной системы, костно-суставного аппарата, патология сердечно-сосудистой и дыхательной систем, гепатоспленомегалия, нарушение слуха. Ферментозаместительная терапия (ФЗТ) дает возможность скорректировать метаболические процессы в лизосомах многих органов и тканей, улучшает клиническую симптоматику за счет частичного восстановления работы поврежденного фермента. Кардиоваскулярная патология является основной причиной летального исхода у пациентов с МПС. В этой связи нами были изучены эффективность ФЗТ идурсульфазой и ее влияние на сердечно-сосудистую систему у 55 пациентов с МПС II типа. Было показано, что ФЗТ, проводимая с раннего возраста, существенно улучшала состояние детей, предотвращала или уменьшала прогрессирование поражения сердца. Перерывы в лечении от 1 до 7 мес, обусловленные у 12 больных экономическими и организационными факторами, во всех случаях приводили к ухудшению состояния пациентов. Ключевые слова: дети, лизосомные болезни, мукополисахаридоз II типа, сердечно-сосудистая система, ферментозаместительная терапия, идурсульфаза.

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Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study

Cited by 13 publications

References 25 publications

Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison

Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison

Description of Functioning in Children and Adolescents with Mucopolysaccharidosis - Case series

Mucopolysaccharidosis type II: Enzyme Replacement Therapy Efficiency

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