Update of treatment for mucopolysaccharidosis type III (sanfilippo syndrome)

Kong, Weijing; Yao, Yanqing; Zhang, Jing; Cheng, Long; Ding, Ying‐Xue; Meng, Yan

doi:10.1016/j.ejphar.2020.173562

Cited by 16 publications

(14 citation statements)

References 90 publications

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“…Proposed therapeutic approaches include enzyme replacement therapy, substrate reduction therapy, gene therapy, and others, however, none of them revealed sufficient efficacy in clinical trials, and no drug for MPS III has been registered. These problems have been reviewed recently in details by various authors [1][2][3][4][5][6]11,[13][14][15][16][17] ; thus, we will not focus on them in this review article. However, due to severity of the disease and a lack of specific treatment, there are serious problems with managing this condition.…”

Section: Introduction -Brief Overview Of Sanfilippo Syndromementioning

confidence: 99%

Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach

Cyske¹,

Anikiej-Wiczenbach²,

Wiśniewska³

et al. 2022

JMDH

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Sanfilippo syndrome, or mucopolysaccharidosis type III (MPS III), is a disease grouping five genetic disorders, four of them occurring in humans and one known to date only in a mouse model. In every subtype of MPS III (designed A, B, C, D or E), a lack or drastically decreased activity of an enzyme involved in the degradation of heparan sulfate (HS) (a compound from the group of glycosaminoglycans (GAGs)) arises from a genetic defect. This leads to primary accumulation of HS, and secondary storage of other compounds, combined with changes in expressions of hundreds of genes and many defects in organelles and various biochemical processes in the cell. As a result, dysfunctions of tissues and organs occur, leading to severe symptoms in patients. Although changes in somatic organs are considerable, the central nervous system is especially severely affected, and neurological, cognitive and behavioral disorders are the most significant changes, making the disease enormously burdensome for patients and their families. In the light of the current lack of any registered therapy for Sanfilippo syndrome (despite various attempts of many research groups to develop effective treatment, still no specific drug or procedure is available for MPS III), optimizing care with a multidisciplinary approach is crucial for managing this disease and making quality of patients' life passable. This includes efforts to make/organize (i) accurate diagnosis as early as possible (which is not easy due to various possible misdiagnosis events caused by similarity of MPS III symptoms to those of other diseases and variability of patients), (ii) optimized symptomatic treatment (which is challenging because of complexity of symptoms and often untypical responses of MPS III patients to various drugs), and (iii) psychological care (for both patients and family members and/or caregivers). In this review article, we focus on these approaches, summarizing and discussing them.

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Section: Introduction -Brief Overview Of Sanfilippo Syndromementioning

confidence: 99%

Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach

Cyske¹,

Anikiej-Wiczenbach²,

Wiśniewska³

et al. 2022

JMDH

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“…Patients have several therapy options, including recombinant human alpha-L-iduronidase in patients with MPS I and intravenous ERT with recombinant human iduronate-2-sulphatase-idursulfase, HSCT, anti-inflammatory treatment, and palliative care with symptomatic surgeries for MPS II. 3 , 17 , 18 Although there is no approved treatment for MPS III, ERT with Mepsevii (vestronidase alfa-jvbk) can be used to treat MPS VII. 5 , 19 Many of these therapies, especially ERT, show potential to significantly improve the outcome and quality of life if started early in the disease course.…”

Section: Introductionmentioning

confidence: 99%

Limited diagnostic facilities impeding the therapeutic approach of Mucopolysaccharidosis in Bangladesh: a case report

Pulock¹,

Pinky

Hasan³

2022

J Int Med Res

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In resource-constrained settings, mucopolysaccharidosis (MPS) is a rare hereditary metabolic illness that frequently remains undiagnosed. We present a scenario that illustrates the challenges in diagnosing and managing MPS because of test inaccessibility, and we propose potential approaches to minimize the hurdles. We recommend that physicians anticipate a rare genetic disease, such as MPS, based on the clinical history findings from routine radiological investigations. Additionally, stakeholders should perform risk stratification and implement screening tests as soon as possible to ensure that patients are effectively enrolled in treatment programs.

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“…Several therapeutic options have been studied for MPS III in clinical trials (e.g. ERT and SRT), but none of them resulted in an approved therapeutic option [10][11][12][13].…”

Section: Introductionmentioning

confidence: 99%

Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study

Eskes

Beishuizen

Corazolla

et al. 2022

Orphanet J Rare Dis

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Introduction Several new treatment modalities are being developed for lysosomal storage disorders (LSDs), including gene therapy. As the currently available treatment options and their influence on disease progression differ greatly within the spectrum of LSDs, willingness to undergo gene therapy might vary among patients with LSDs and/or their representatives. The width of the LSD spectrum is illustrated by the differences between type 1 Gaucher disease, Fabry disease and Mucopolysaccharidosis type III (MPS III). For type 1 Gaucher and Fabry disease several therapies are available, resulting in a near normal or improved, but individually varying, prognosis. No treatment options are available for MPS III. Aim To identify factors influencing patients’ and/or their representatives’ decisions regarding undergoing gene therapy. Methods Focus group discussions and semi-structured interviews were conducted with patients with type 1 Gaucher disease, Fabry disease and MPS III. Parents of MPS III patients were included as patients’ representatives. Results Nine Gaucher patients, 23 Fabry patients, two adult MPS III patients and five parents of MPS III patients participated in the study. The five main themes that arose were: outcome of gene therapy, risks and side effects, burden of gene therapy treatment, current situation and ethical aspects. Participants’ views ranged from hesitance to eagerness to undergo gene therapy, which seemed to be mostly related to disease severity and currently available treatment options. Severe disease, limited treatment options and limited effectiveness of current treatment augmented the willingness to choose gene therapy. Gaucher and Fabry patients deemed the burden of treatment important. Fabry and MPS III patients and parents considered outcome important, suggesting hope for improvement. When asked to rank the factors discussed in the focus group discussions, Gaucher patients ranked outcome low, which could indicate a more cautious attitude towards gene therapy. Conclusion This study underlines the importance of exploring patients’ needs and expectations before using limited resources in the development of therapies for patient groups of which a significant subset may not be willing to undergo that specific therapy.

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Update of treatment for mucopolysaccharidosis type III (sanfilippo syndrome)

Cited by 16 publications

References 90 publications

Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach

Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach

Limited diagnostic facilities impeding the therapeutic approach of Mucopolysaccharidosis in Bangladesh: a case report

Patients’ view on gene therapy development for lysosomal storage disorders: a qualitative study

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