Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: systematic review

Gomes, Dalila Fernandes; Gallo, Luciana Guerra; Leite, Betânia; Silva, Roberta Borges; Silva, Everton Nunes da

doi:10.1007/s10545-018-0242-8

Cited by 3 publications

(6 citation statements)

References 25 publications

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“…Treatment options vary depending on the MPS subtype. ERT is the most common treatment for MPS, with approved therapies available for [ 51 , 52 ], MPS II [ 30 ], MPS IVA [ 85 , 86 , 87 ], MPS VI [ 37 ], and MPS VII [ 103 , 104 ]. Research on the effects of ERT on audiological function has been inconclusive [ 53 ].…”

Section: Discussionmentioning

confidence: 99%

“…Research on the effects of ERT on audiological function has been inconclusive [ 53 ]. While case reports on MPS IVA [ 88 ] and MPS VI [ 38 , 39 ] have described hearing improvement after ERT, studies on MPS I [ 21 ] and MPS VI [ 37 ] have described no change in audiological function after ERT. A MPS II murine model found that ERT was able to improve the conductive component, but was unable to ameliorate the sensorineural component [ 31 ].…”

Section: Discussionmentioning

confidence: 99%

“…Recurrent acute otitis media are a common problem in patients with MPS VI [ 96 ]. Most patients with MPS VI suffer from mild to moderate conductive hearing loss [ 10 , 11 , 37 , 96 ]. A recent retrospective study of five patients with MPS VI reported that, while conductive hearing loss is common, it seems to be temporary and can be treated through surgical interventions such as tympanostomy tube placement [ 97 ].…”

Section: Mucopolysaccharidosis Type VI (Maroteaux–lamy Syndrome)mentioning

confidence: 99%

“…Without the presence of any otolaryngologic interventions such as tympanostomy tube placement, hearing issues can progress and lead to severe or permanent hearing loss [ 97 ]. As for the ERT effects on hearing in patients with MPS VI, the results are still inconclusive [ 37 , 38 , 39 , 40 , 53 ]. Previous studies have indicated an unchanging hearing status after ERT in some patients, whereas other studies have indicated hearing improvement [ 38 , 39 , 40 ], even in the patient with sensorineural hearing loss.…”

Section: Mucopolysaccharidosis Type VI (Maroteaux–lamy Syndrome)mentioning

confidence: 99%

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Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions

et al. 2020

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Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a deficiency of one of the enzymes involved in the degradation of glycosaminoglycans. Hearing loss is a common clinical presentation in MPS. This paper reviews the literature on hearing loss for each of the seven recognized subtypes of MPS. Hearing loss was found to be common in MPS I, II, III, IVA, VI, and VII, and absent from MPS IVB and MPS IX. MPS VI presents primarily with conductive hearing loss, while the other subtypes (MPS I, MPS II, MPS III, MPS IVA, and MPS VII) can present with any type of hearing loss (conductive, sensorineural, or mixed hearing loss). The sensorineural component develops as the disease progresses, but there is no consensus on the etiology of the sensorineural component. Enzyme replacement therapy (ERT) is the most common therapy utilized for MPS, but the effects of ERT on hearing function have been inconclusive. This review highlights a need for more comprehensive and multidisciplinary research on hearing function that includes behavioral testing, objective testing, and temporal bone imaging. This information would allow for better understanding of the progression and etiology of hearing loss. Owing to the prevalence of hearing loss in MPS, early diagnosis of hearing loss and annual comprehensive audiological evaluations are recommended.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Mucopolysaccharidosis Type VI (Maroteaux–lamy Syndrome)mentioning

confidence: 99%

Section: Mucopolysaccharidosis Type VI (Maroteaux–lamy Syndrome)mentioning

confidence: 99%

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Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions

et al. 2020

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“…Since 2005, enzyme replacement therapy (ERT) by Galsulfase is available. Galsulfase infusion leads to reduced urinary glycosaminoglycans secretion with improved quality of life, life expectancy, respiratory function, and joint mobility (Gomes et al, 2019).…”

Section: Introductionmentioning

confidence: 99%

Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux–Lamy syndrome (MPS VI)

Marek‐Yagel

Eliyahu

Veber

et al. 2021

American J of Med Genetics Pt A

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Maroteaux-Lamy syndrome (MPS-VI) is a rare autosomal-recessive disorder with a wide spectrum of clinical manifestations, ranging from an attenuated to a rapidly progressive disease. It is caused by variants in ARSB, which encodes the lysosomal arylsulfatase B (ARSB) enzyme, part of the degradation process of glycosaminoglycans in lysosomes. Over 220 variants have been reported so far, with a majority of missense variants. We hereby report two siblings of Bedouin origin with a diagnosis of MPS-VI. Western blots in patient fibroblasts revealed total absence of ARSB protein production. Complete sequencing of the coding region of ARSB did not identify a candidate disease-associated variant. However, deep sequencing of the noncoding region of ARSB by whole genome sequencing (WGS) revealed a c.1142+581A to G variant. The variant is located within intron 5 and fully segregated with the disease in the family. Determination of the genetic cause for these patients enabled targeted treatment by enzyme replacement therapy, along with appropriate genetic counseling and prenatal diagnosis for the family. These results highlight the advantage of WGS as a powerful tool, for improving the diagnostic rate of rare disease-causing variants, and emphasize the importance of studying deep intronic sequence variation as a cause of monogenic disorders.

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Experiences of patients with lysosomal storage disorders who are receiving enzyme-replacement therapy and the experiences of their family members: a qualitative systematic review

Koto

Ueki

Yamakawa

et al. 2021

JBI Evidence Synthesis

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The objective of this review was to investigate the experiences of patients with lysosomal storage disorders who are receiving enzyme-replacement therapy and the experiences of their family members.Introduction: Lysosomal storage disorders are rare diseases caused by mutations in the genes that encode proteins required for lysosomal function. The age of onset of these disorders varies from infancy to adulthood, depending on the specific disease and type. Enzyme-replacement therapy is the standard treatment for some lysosomal storage disorders. However, patients' adherence to this treatment is affected not only by the resultant changes (or lack thereof) in their symptoms, but also by the scheduling of the frequent hospital visits necessary to receive this treatment. No previous qualitative systematic review has examined the experiences of these patients and their families.Inclusion criteria: Qualitative studies on the experiences of patients with lysosomal storage disorders who were receiving enzyme-replacement therapy and/or the experiences of the family members of these patients were included. These experiences could include satisfaction/dissatisfaction with diagnosis, difficulties and expectations regarding continuing treatment, advantages/disadvantages concerning school and work life, the psychological burden on families, and the support provided by families. This review considered studies in all settings because relevant experiences may occur outside medical institutions.Methods: MEDLINE, CINAHL Plus, APA PsycINFO, Scopus, and Igaku Chuo Zasshi were searched for articles published between January 1991 and May 13, 2021. No language restrictions were applied. The study selection, critical appraisal, data extraction, and data synthesis were performed in accordance with the JBI methodology for systematic reviews of qualitative evidence.Results: Seven studies were included in this review, from which 37 findings with narrative illustrations were extracted; of these, 33 were assessed as unequivocal and four as credible. These findings were integrated into 10 categories and three synthesized findings. The first synthesized finding was encouraging awareness of the minor changes in physical symptoms caused by the treatment, which contains categories such as physical change caused by treatment. The second synthesized finding was supporting acceptance of the disease and coping with associated psychological challenges, which contains categories such as concerns regarding the future. The third synthesized finding was customization of treatment plans to minimize restrictions on the lives of patients and their families, which contains categories such as restrictions on patients' lives. According to the ConQual criteria, all three synthesized findings had low confidence levels. Conclusion:Evidence obtained through the synthesized findings produced in this review identified the primary experiences of patients with lysosomal storage disorders who are receiving enzyme-replacement therapy and their family members. These experienc...

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Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: systematic review

Cited by 3 publications

References 25 publications

Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions

Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions

Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux–Lamy syndrome (MPS VI)

Experiences of patients with lysosomal storage disorders who are receiving enzyme-replacement therapy and the experiences of their family members: a qualitative systematic review

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