Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II

Barth, Anneliese Lopes; Horovitz, Dafne D.G.

doi:10.1177/2326409818779097

Cited by 15 publications

(15 citation statements)

References 45 publications

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“…HSCT was applied for the first time for MPS II in 1986 to a 7 year old patient [145]; even if the intellectual ability was stabilized after transplantation, the plasma enzyme levels remained far below normal and 3.5 years after transplantation, the patient died due to cardiovascular complications [146].…”

Section: Haematopoietic Stem Cell Transplantation (Hsct)mentioning

confidence: 99%

“…Therefore, the clinical experience with HSCT in MPS II is small, especially compared to MPS I, for which more than 600 transplantations have been performed. Available data on HSCT in MPS II are outdated or reveal poor patient selection criteria (especially concerning the presence of neurological symptoms and the age at transplantation) and a great variability of cell sources, conditioning regimens, and outcomes of interest [146]. A study performed by Tanaka and colleagues, evaluating the long effects of HSCT, showed an improvement in uGAG levels, heart valve regurgitation, brain magnetic resonance imaging (MRI) atrophy, category I and II brain lesions, and activity of daily living (ADL).…”

Section: Haematopoietic Stem Cell Transplantation (Hsct)mentioning

confidence: 99%

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Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

D’Avanzo

Rigon

Zanetti

et al. 2020

IJMS

100

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Mucopolysaccharidosis type II (MPS II, Hunter syndrome) was first described by Dr. Charles Hunter in 1917. Since then, about one hundred years have passed and Hunter syndrome, although at first neglected for a few decades and afterwards mistaken for a long time for the similar disorder Hurler syndrome, has been clearly distinguished as a specific disease since 1978, when the distinct genetic causes of the two disorders were finally identified. MPS II is a rare genetic disorder, recently described as presenting an incidence rate ranging from 0.38 to 1.09 per 100,000 live male births, and it is the only X-linked-inherited mucopolysaccharidosis. The complex disease is due to a deficit of the lysosomal hydrolase iduronate 2-sulphatase, which is a crucial enzyme in the stepwise degradation of heparan and dermatan sulphate. This contributes to a heavy clinical phenotype involving most organ-systems, including the brain, in at least two-thirds of cases. In this review, we will summarize the history of the disease during this century through clinical and laboratory evaluations that allowed its definition, its correct diagnosis, a partial comprehension of its pathogenesis, and the proposition of therapeutic protocols. We will also highlight the main open issues related to the possible inclusion of MPS II in newborn screenings, the comprehension of brain pathogenesis, and treatment of the neurological compartment.

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Section: Haematopoietic Stem Cell Transplantation (Hsct)mentioning

confidence: 99%

Section: Haematopoietic Stem Cell Transplantation (Hsct)mentioning

confidence: 99%

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

D’Avanzo

Rigon

Zanetti

et al. 2020

IJMS

100

View full text Add to dashboard Cite

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“…However, these recommendations have a higher degree of evidence than the individual beliefs of a single investigator; and they had a great utility summarizing the available knowledge to guide clinical practice and the future investigations (Scarpa et al, 2011;Barth and Horovitz, 2018). Nowadays, HSCT is reconsidered as therapy in other forms of neuronopathic MPS after the development of new treatment techniques and the creation of umbilical cords bank and bone marrow donor registries (Barth and Horovitz, 2018). Accordingly, the Cochrane guidelines accept the inclusion of nonrandomized study designs in systematic reviews under some constraints: "i) when randomized trials are unable to address the effects of the intervention on harm and long-term outcomes or in specific populations or settings; or ii) for interventions that cannot be randomized (e.g., policy change introduced in a single or small number of jurisdictions)" (Higgins et al, 2019).…”

Section: Discussionmentioning

confidence: 99%

The Impact of Excluding Nonrandomized Studies From Systematic Reviews in Rare Diseases: “The Example of Meta-Analyses Evaluating the Efficacy and Safety of Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis”

Sampayo-Cordero

Miguel-Huguet

Malfettone

et al. 2021

Front. Mol. Biosci.

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Nonrandomized studies are usually excluded from systematic reviews. This could lead to loss of a considerable amount of information on rare diseases. In this article, we explore the impact of excluding nonrandomized studies on the generalizability of meta-analyses results on mucopolysaccharidosis (MPS) disease. A comprehensive search of systematic reviews on MPS patients up to May 2020 was carried out (CRD42020191217). The primary endpoint was the rate of patients excluded from systematic reviews if only randomized studies were considered. Secondary outcomes included the differences in patient and study characteristics between randomized and nonrandomized studies, the methods used to combine data from studies with different designs, and the number of patients excluded from systematic reviews if case reports were not considered. More than 50% of the patients analyzed have been recruited in nonrandomized studies. Patient characteristics, duration of follow-up, and the clinical outcomes evaluated differ between the randomized and nonrandomized studies. There are feasible strategies to combine the data from different randomized and nonrandomized designs. The analyses suggest the relevance of including case reports in the systematic reviews, since the smaller the number of patients in the reference population, the larger the selection bias associated to excluding case reports. Our results recommend including nonrandomized studies in the systematic reviews of MPS to increase the representativeness of the results and to avoid a selection bias. The recommendations obtained from this study should be considered when conducting systematic reviews on rare diseases.

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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%

“…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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Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type II

Cited by 15 publications

References 45 publications

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

The Impact of Excluding Nonrandomized Studies From Systematic Reviews in Rare Diseases: “The Example of Meta-Analyses Evaluating the Efficacy and Safety of Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis”

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

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