Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation

Suzuki, Yasuyuki; Taylor, Madeleine; Orii, Kenji E.; Fukao, Toshiyuki; Orii, Tadao; Tomatsu, Shunji

doi:10.3390/diagnostics10010046

Cited by 7 publications

(10 citation statements)

References 39 publications

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“…Improved [192,[199][200][201][202][203][204][205] Improved [206,207] Improved (case studies n < 10) [208][209][210]…”

Section: Manifestation Ert Hsct Hepatosplenomegalymentioning

confidence: 99%

“…No change [199,200] Improved (shoulders) [195,205] No change [206] No change (case studies n < 10) [214,216,218,219] Improved [207,220] Improved (case studies n < 10) [208,209,213]…”

Section: Joint Stiffnessmentioning

confidence: 99%

“…No change [195,201] Improved [217] Improved (case studies <10) [198,217] Worsening (case studies n < 10) [208][209][210]219,224] Apnea Improved/stabilized apnea (obstructive) [182] Improved apnea (not clarified whether obstructive or central) [207] Diarrhea Improved/stabilized [205] NA…”

Section: Cognitive Impairmentmentioning

confidence: 99%

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Differences in MPS I and MPS II Disease Manifestations

Hampe

Yund

Orchard

et al. 2021

IJMS

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Mucopolysaccharidosis (MPS) type I and II are two closely related lysosomal storage diseases associated with disrupted glycosaminoglycan catabolism. In MPS II, the first step of degradation of heparan sulfate (HS) and dermatan sulfate (DS) is blocked by a deficiency in the lysosomal enzyme iduronate 2-sulfatase (IDS), while, in MPS I, blockage of the second step is caused by a deficiency in iduronidase (IDUA). The subsequent accumulation of HS and DS causes lysosomal hypertrophy and an increase in the number of lysosomes in cells, and impacts cellular functions, like cell adhesion, endocytosis, intracellular trafficking of different molecules, intracellular ionic balance, and inflammation. Characteristic phenotypical manifestations of both MPS I and II include skeletal disease, reflected in short stature, inguinal and umbilical hernias, hydrocephalus, hearing loss, coarse facial features, protruded abdomen with hepatosplenomegaly, and neurological involvement with varying functional concerns. However, a few manifestations are disease-specific, including corneal clouding in MPS I, epidermal manifestations in MPS II, and differences in the severity and nature of behavioral concerns. These phenotypic differences appear to be related to different ratios between DS and HS, and their sulfation levels. MPS I is characterized by higher DS/HS levels and lower sulfation levels, while HS levels dominate over DS levels in MPS II and sulfation levels are higher. The high presence of DS in the cornea and its involvement in the arrangement of collagen fibrils potentially causes corneal clouding to be prevalent in MPS I, but not in MPS II. The differences in neurological involvement may be due to the increased HS levels in MPS II, because of the involvement of HS in neuronal development. Current treatment options for patients with MPS II are often restricted to enzyme replacement therapy (ERT). While ERT has beneficial effects on respiratory and cardiopulmonary function and extends the lifespan of the patients, it does not significantly affect CNS manifestations, probably because the enzyme cannot pass the blood–brain barrier at sufficient levels. Many experimental therapies, therefore, aim at delivery of IDS to the CNS in an attempt to prevent neurocognitive decline in the patients.

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“…Improved [192,[199][200][201][202][203][204][205] Improved [206,207] Improved (case studies n < 10) [208][209][210]…”

Section: Manifestation Ert Hsct Hepatosplenomegalymentioning

confidence: 99%

“…No change [199,200] Improved (shoulders) [195,205] No change [206] No change (case studies n < 10) [214,216,218,219] Improved [207,220] Improved (case studies n < 10) [208,209,213]…”

Section: Joint Stiffnessmentioning

confidence: 99%

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Differences in MPS I and MPS II Disease Manifestations

Hampe

Yund

Orchard

et al. 2021

IJMS

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show abstract

“…It was also employed in smaller numbers of patients with MPS II, III, IV and VI with controversial results [4][5][6][7][8][9][10][11][12][13]. Recent evidence suggests HSCT as an acceptable treatment option for MPS II [12][13][14]. Enzyme replacement therapy (ERT) is the other more recent available treatment, which is obtained through recombinant DNA technology.…”

Section: Introductionmentioning

confidence: 99%

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

Parini

Deodato

2020

IJMS

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The aim of this review is to summarize the evidence on efficacy, effectiveness and safety of intravenous enzyme replacement therapy (ERT) available for mucopolysaccharidoses (MPSs) I, II, IVA, VI and VII, gained in phase III clinical trials and in observational post-approval studies. Post-marketing data are sometimes conflicting or controversial, possibly depending on disease severity, differently involved organs, age at starting treatment, and development of anti-drug antibodies (ADAs). There is general agreement that ERT is effective in reducing urinary glycosaminoglycans and liver and spleen volume, while heart and joints outcomes are variable in different studies. Effectiveness on cardiac valves, trachea and bronchi, hearing and eyes is definitely poor, probably due to limited penetration in the specific tissues. ERT does not cross the blood–brain barrier, with the consequence that the central nervous system is not cured by intravenously injected ERT. All patients develop ADAs but their role in ERT tolerance and effectiveness has not been well defined yet. Lack of reliable biomarkers contributes to the uncertainties about effectiveness. The data obtained from affected siblings strongly indicates the need of neonatal screening for treatable MPSs. Currently, other treatments are under evaluation and will surely help improve the prognosis of MPS patients.

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“…Experience with HSCT in MPS II is limited, but recent studies have demonstrated some efficacy in terms of reducing GAG levels, and improving some of the somatic manifestations such as coarse facial features, joint stiffness, hearing defects, hernia, hepatosplenomegaly and heart valve disorders. In addition, improvements in activities of daily living and the frequency of respiratory infections have also been reported 2,27–30 . There is also preliminary evidence of modest neurological benefit with HSCT in MPS II patients, which has not been evident with ERT 28,29 …”

Section: Mucopolysaccharidoses: a Rare And Heterogeneous Group Of Mulmentioning

confidence: 98%

Treatable lysosomal storage diseases in the advent of disease‐specific therapy

Peters

Ellaway

Nicholls

et al. 2020

Internal Medicine Journal

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Lysosomal storage diseases (LSD) comprise a rare and heterogeneous group of nearly 50 heritable metabolic disorders caused by mutations in proteins critical for cellular lysosomal function. Defects in the activity of these proteins in multiple organs leads to progressive intra‐lysosomal accumulation of specific substrates, resulting in disruption of cellular functions, extracellular inflammatory responses, tissue damage and organ dysfunction. The classification and clinical presentation of different LSD are dependent on the type of accumulated substrate. Some clinical signs and symptoms are common across multiple LSD, while others are more specific to a particular syndrome. Due to the rarity and wide clinical diversity of LSD, identification and diagnosis can be challenging, and in many cases diagnosis is delayed for months or years. Treatments, such as enzyme replacement therapy, haemopoietic stem cell transplantation and substrate reduction therapy, are now available for some of the LSD. For maximum effect, therapy must be initiated prior to the occurrence of irreversible tissue damage, highlighting the importance of prompt diagnosis. Herein, we discuss the clinical presentation, diagnosis and treatment of four of the treatable LSD: Gaucher disease, Fabry disease, Pompe disease, and two of the mucopolysaccharidoses (I and II). For each disease, we present illustrative case studies to help increase awareness of their clinical presentation and possible treatment outcomes.

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Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation

Cited by 7 publications

References 39 publications

Differences in MPS I and MPS II Disease Manifestations

Differences in MPS I and MPS II Disease Manifestations

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

Treatable lysosomal storage diseases in the advent of disease‐specific therapy

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