Nanotechnology applied to treatment of mucopolysaccharidoses

Schuh, Roselena Silvestri; Baldo, Guilherme; Teixeira, Hélder Ferreira

doi:10.1080/17425247.2016.1202235

Cited by 26 publications

(13 citation statements)

References 92 publications

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“…Although non-viral vectors are very safe, due to their episomal conformation and very low immunogenicity, their main drawback is the low transfection efficiency. Many strategies have been developed to enhance non-viral gene delivery (Wang et al , 2013; Jayant et al , 2016), as electroporation, gene gun, hydrodynamic injection, nanotechnology-based carriers (Schuh et al , 2016), DNA minicircle (Osborn et al , 2011), and transposons (Aronovich et al , 2009), but all still present low efficiency of transfection and specific procedure limitations.…”

Section: Gene Therapymentioning

confidence: 99%

Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases

et al. 2019

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Lysosomal storage diseases (LSDs) are inherited conditions caused by impaired lysosomal function and consequent substrate storage, leading to a range of clinical manifestations, including cardiovascular disease. This may lead to significant symptoms and even cardiac failure, which is an important cause of death among patients. Currently available treatments do not completely correct cardiac involvement in the LSDs. Gene therapy has been tested as a therapeutic alternative with promising results for the heart disease. In this review, we present the results of different approaches of gene therapy for LSDs, mainly in animal models, and its effects in the heart, focusing on protocols with cardiac functional analysis.

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Section: Gene Therapymentioning

confidence: 99%

Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases

et al. 2019

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“…There was an improvement in neurocognitive progression compared with the natural history of MPS III, although a longer follow-up was envisaged to assess safety outcomes and persistency of improved cognitive development [ 77 ]. Additional promising approaches for the treatment of CNS disease in MPS include enzyme-fusion protein technology (Trojan horse strategy), substrate reduction therapy, chaperone molecules, and the use of nanoparticle-delivered therapy [ 16 , 78 , 79 ] (see also the reviews by Fecarotta et al [ 80 ] and Fraldi et al [ 81 ] in this Supplement). In addition to the treatment of primary CNS disease, children with MPS benefit from adjunctive therapies such as speech/language therapy, and occupational and physical therapy.…”

Section: Principles Of Treatment Of Neuronopathic Mpsmentioning

confidence: 99%

Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses

Barone

Pellico

Pittalà³

et al. 2018

Ital J Pediatr

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Mucopolysaccharidoses (MPS) are a group of lysosomal multisystemic, chronic, and progressive diseases characterized by the storage of glycosaminoglycans (GAGs) that may affect the central nervous system. Neuronopathic MPS such as MPS IH, MPS II, MPS IIIA–D, and MPS VII are characterized by neurocognitive regression. In severe MPS I (MPS IH, or Hurler syndrome) initial developmental trajectory is usually unremarkable but cognitive development shows a plateau by 2 to 4 years of age and then progressively regresses with aging. Patients with neuronopathic MPS II have a plateau of cognitive and adaptive development on average by 4 to 4.5 years of age, although there is significant variability, followed by progressive neurocognitive decline. In patients with classic MPS III, developmental trajectory reaches a plateau around 3 years of age, followed by regression. Sleep disturbances and behavioral problems occur early in MPS II and III with features of externalizing disorders. Acquired autism-like behavior is often observed in children with MPS III after 4–6 years of age. Impaired social and communication abilities do occur, but MPS III children do not have restricted and repetitive interests such as in autism spectrum disorder. MPS type VII is an ultra-rare neuronopathic MPS with a wide clinical spectrum from very severe with early mortality to milder phenotypes with longer survival into adolescence and adulthood. Most patients with MPS VII have intellectual disability and severely delayed speech development, usually associated with hearing impairment. Cognitive regression in neuronopathic MPS runs parallel to a significant decrease in brain tissue volume. Assessment of the developmental profile is challenging because of low cognitive abilities, physical impairment, and behavioral disturbances. Early diagnosis is crucial as different promising treatment approaches have been extensively studied in animal MPS models and are currently being applied in clinical trials.

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“…7,[16][17][18][19] A quick diagnosis is essential because the therapeutics are effective only in patients under 2.5 years of age. 3,[20][21][22] Progress in MPS treatment has occurred throughout the world. However, in low-and middle-income countries, it is difficult to have a definitive diagnosis of one of the MPSs due to lacking enzyme assays.…”

Section: Introductionmentioning

confidence: 99%

A case study of three patients with mucopolysaccharidoses in Hue Central Hospital

Hao

Diem

Duc

et al. 2020

SAGE Open Medical Case Reports

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Mucopolysaccharidosis is a group of rare metabolic disorders characterized by a deficiency of enzymes in the degradation of glycosaminoglycans. The incomplete degradation process leads to the accumulation of glycosaminoglycans in lysosomes of various tissues, which interferes with cell function. We report three cases that were classified as Hurler—Mucopolysaccharidosis I, Morquio—Mucopolysaccharidosis IV A, and Maroteaux–Lamy—Mucopolysaccharidosis VI. Clinical presentations of these cases vary, depending on each type of enzyme defect. All the patients appeared healthy at birth, and symptoms appear at around 1 or 2 years. Clinical features, radiological findings, and especially enzyme assays have allowed us to establish a definitive diagnosis in these cases. These cases highlight that abnormal clinical symptoms, such as growth failure, coarse facial features, and joint problems, are key points for further investigation relating to mucopolysaccharidosis disease. However, in low- and middle-income countries, it is difficult to have a definitive diagnosis of one of the mucopolysaccharidoses due to lacking enzyme assays.

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Nanotechnology applied to treatment of mucopolysaccharidoses

Cited by 26 publications

References 92 publications

Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases

Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases

Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses

A case study of three patients with mucopolysaccharidoses in Hue Central Hospital

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