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Journal articles on the topic 'Mucopolysaccharidosis Gene therapy'

Author: Grafiati

Published: 4 June 2021

Last updated: 31 January 2023

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1

Ponder, Katherine P., and Mark E. Haskins. "Gene therapy for mucopolysaccharidosis." Expert Opinion on Biological Therapy 7, no. 9 (August 29, 2007): 1333–45. http://dx.doi.org/10.1517/14712598.7.9.1333.

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2

Wood, Heather. "Gene therapy for mucopolysaccharidosis shows promise." Nature Reviews Neurology 13, no. 9 (July 28, 2017): 513. http://dx.doi.org/10.1038/nrneurol.2017.110.

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3

Sands, Mark S., John H. Wolfe, Edward H. Birkenmeier, Jane E. Barker, Carole Vogler, William S. Sly, Torayuki Okuyama, Brian Freeman, Andrew Nicholes, and Nicholas Muzyczka. "Gene therapy for murine mucopolysaccharidosis type VII." Neuromuscular Disorders 7, no. 5 (July 1997): 352–60. http://dx.doi.org/10.1016/s0960-8966(97)00061-8.

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4

Kubaski, Francyne, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Ursula da Silveira Matte, Dafne D. Horovitz, Anneliese Lopes Barth, Guilherme Baldo, Filippo Vairo, and Roberto Giugliani. "Mucopolysaccharidosis Type I." Diagnostics 10, no. 3 (March 16, 2020): 161. http://dx.doi.org/10.3390/diagnostics10030161.

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Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of α-l-iduronidase, leading to the storage of dermatan and heparan sulfate. There is a broad phenotypical spectrum with the presence or absence of neurological impairment. The classical form is known as Hurler syndrome, the intermediate form as Hurler–Scheie, and the most attenuated form is known as Scheie syndrome. Phenotype seems to be largely influenced by genotype. Patients usually develop several somatic symptoms such as abdominal hernias, extensive dermal melanocytosis, thoracolumbar kyphosis odontoid dysplasia, arthropathy, coxa valga and genu valgum, coarse facial features, respiratory and cardiac impairment. The diagnosis is based on the quantification of α-l-iduronidase coupled with glycosaminoglycan analysis and gene sequencing. Guidelines for treatment recommend hematopoietic stem cell transplantation for young Hurler patients (usually at less than 30 months of age). Intravenous enzyme replacement is approved and is the standard of care for attenuated—Hurler–Scheie and Scheie—forms (without cognitive impairment) and for the late-diagnosed severe—Hurler—cases. Intrathecal enzyme replacement therapy is under evaluation, but it seems to be safe and effective. Other therapeutic approaches such as gene therapy, gene editing, stop codon read through, and therapy with small molecules are under development. Newborn screening is now allowing the early identification of MPS I patients, who can then be treated within their first days of life, potentially leading to a dramatic change in the disease’s progression. Supportive care is very important to improve quality of life and might include several surgeries throughout the life course.

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5

Lah, Benjamin, Tadej Jalšovec, Ana Drole Torkar, Jana Kodrič, Saba Battelino, Mojca Žerjav Tanšek, Tadej Battelino, and Urh Grošelj. "GENE THERAPY IN MUCOPOLYSACCHARIDOSIS TYPE IIIA: CASE REPORTS." Slovenska pediatrija, revija pediatrov Slovenije in specialistov šolske ter visokošolske medicine Slovenije 29, no. 2 (2022): 66–71. http://dx.doi.org/10.38031/slovpediatr-2022-2-02en.

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6

Hemsley, Kim, and Adeline Lau. "Intracerebral gene therapy for mucopolysaccharidosis type IIIB syndrome." Lancet Neurology 16, no. 9 (September 2017): 681–82. http://dx.doi.org/10.1016/s1474-4422(17)30200-4.

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7

Vasilev, Filipp, Aitalina Sukhomyasova, and Takanobu Otomo. "Mucopolysaccharidosis-Plus Syndrome." International Journal of Molecular Sciences 21, no. 2 (January 9, 2020): 421. http://dx.doi.org/10.3390/ijms21020421.

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Previously, we reported a novel disease of impaired glycosaminoglycans (GAGs) metabolism without deficiency of known lysosomal enzymes—mucopolysaccharidosis-plus syndrome (MPSPS). MPSPS, whose pathophysiology is not elucidated, is an autosomal recessive multisystem disorder caused by a specific mutation p.R498W in the VPS33A gene. VPS33A functions in endocytic and autophagic pathways, but p.R498W mutation did not affect both of these pathways in the patient’s skin fibroblast. Nineteen patients with MPSPS have been identified: seventeen patients were found among the Yakut population (Russia) and two patients from Turkey. Clinical features of MPSPS patients are similar to conventional mucopolysaccharidoses (MPS). In addition to typical symptoms for conventional MPS, MPSPS patients developed other features such as congenital heart defects, renal and hematopoietic disorders. Diagnosis generally requires evidence of clinical picture similar to MPS and molecular genetic testing. Disease is very severe, prognosis is unfavorable and most of patients died at age of 10–20 months. Currently there is no specific therapy for this disease and clinical management is limited to supportive and symptomatic treatment.

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8

Bosch, Fatima. "Gene therapies: Towards a gene therapy for neurological and somatic mucopolysaccharidosis." New Biotechnology 33 (July 2016): S8. http://dx.doi.org/10.1016/j.nbt.2016.06.753.

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9

Piechnik, Matthew, Paige C. Amendum, Kazuki Sawamoto, Molly Stapleton, Shaukat Khan, Nidhi Fnu, Victor Álvarez, et al. "Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy." International Journal of Molecular Sciences 23, no. 20 (October 21, 2022): 12693. http://dx.doi.org/10.3390/ijms232012693.

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Adeno-associated virus (AAV) vector-based therapies can effectively correct some disease pathology in murine models with mucopolysaccharidoses. However, immunogenicity can limit therapeutic effect as immune responses target capsid proteins, transduced cells, and gene therapy products, ultimately resulting in loss of enzyme activity. Inherent differences in male versus female immune response can significantly impact AAV gene transfer. We aim to investigate sex differences in the immune response to AAV gene therapies in mice with mucopolysaccharidosis IVA (MPS IVA). MPS IVA mice, treated with different AAV vectors expressing human N-acetylgalactosamine 6-sulfate sulfatase (GALNS), demonstrated a more robust antibody response in female mice resulting in subsequent decreased GALNS enzyme activity and less therapeutic efficacy in tissue pathology relative to male mice. Under thyroxine-binding globulin promoter, neutralizing antibody titers in female mice were approximately 4.6-fold higher than in male mice, with GALNS enzyme activity levels approximately 6.8-fold lower. Overall, male mice treated with AAV-based gene therapy showed pathological improvement in the femur and tibial growth plates, ligaments, and articular cartilage as determined by contrasting differences in pathology scores compared to females. Cardiac histology revealed a failure to normalize vacuolation in females, in contrast, to complete correction in male mice. These findings promote the need for further determination of sex-based differences in response to AAV-mediated gene therapy related to developing treatments for MPS IVA.

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10

Zapolnik, Paweł, and Antoni Pyrkosz. "Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I—A Mini-Review." International Journal of Molecular Sciences 23, no. 9 (April 26, 2022): 4785. http://dx.doi.org/10.3390/ijms23094785.

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Mucopolysaccharidosis type I (MPS I) is a rare monogenic disease in which glycosaminoglycans’ abnormal metabolism leads to the storage of heparan sulfate and dermatan sulfate in various tissues. It causes its damage and impairment. Patients with the severe form of MPS I usually do not live up to the age of ten. Currently, the therapy is based on multidisciplinary care and enzyme replacement therapy or hematopoietic stem cell transplantation. Applying gene therapy might benefit the MPS I patients because it overcomes the typical limitations of standard treatments. Nanoparticles, including nanoemulsions, are used more and more in medicine to deliver a particular drug to the target cells. It allows for creating a specific, efficient therapy method in MPS I and other lysosomal storage disorders. This article briefly presents the basics of nanoemulsions and discusses the current state of knowledge about their usage in mucopolysaccharidosis type I.

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11

Zapolnik, Paweł, and Antoni Pyrkosz. "Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I—A Mini-Review." International Journal of Molecular Sciences 23, no. 9 (April 26, 2022): 4785. http://dx.doi.org/10.3390/ijms23094785.

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Mucopolysaccharidosis type I (MPS I) is a rare monogenic disease in which glycosaminoglycans’ abnormal metabolism leads to the storage of heparan sulfate and dermatan sulfate in various tissues. It causes its damage and impairment. Patients with the severe form of MPS I usually do not live up to the age of ten. Currently, the therapy is based on multidisciplinary care and enzyme replacement therapy or hematopoietic stem cell transplantation. Applying gene therapy might benefit the MPS I patients because it overcomes the typical limitations of standard treatments. Nanoparticles, including nanoemulsions, are used more and more in medicine to deliver a particular drug to the target cells. It allows for creating a specific, efficient therapy method in MPS I and other lysosomal storage disorders. This article briefly presents the basics of nanoemulsions and discusses the current state of knowledge about their usage in mucopolysaccharidosis type I.

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12

Hurt, Sarah, Steven Q. Le, Samir Mendonca, Patricia Dickson, and David T. Curiel. "An adenoviral mediated gene therapy for mucopolysaccharidosis type I." Molecular Genetics and Metabolism 135, no. 2 (February 2022): S60. http://dx.doi.org/10.1016/j.ymgme.2021.11.148.

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13

Ponder, K. P., J. R. Melniczek, L. Xu, M. A. Weil, T. M. O'Malley, P. A. O'Donnell, V. W. Knox, et al. "Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs." Proceedings of the National Academy of Sciences 99, no. 20 (September 13, 2002): 13102–7. http://dx.doi.org/10.1073/pnas.192353499.

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14

Vera, Luisa Natalia Pimentel, and Guilherme Baldo. "The potential of gene therapy for mucopolysaccharidosis type I." Expert Opinion on Orphan Drugs 8, no. 1 (January 2, 2020): 33–41. http://dx.doi.org/10.1080/21678707.2020.1715208.

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15

Bidone, Juliana, Roselena Silvestri Schuh, Mirian Farinon, Édina Poletto, Gabriela Pasqualim, Patrícia Gnieslaw de Oliveira, Michelle Fraga, et al. "Intra-articular nonviral gene therapy in mucopolysaccharidosis I mice." International Journal of Pharmaceutics 548, no. 1 (September 2018): 151–58. http://dx.doi.org/10.1016/j.ijpharm.2018.06.049.

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16

McIntyre, Chantelle, Ainslie Lauren Derrick Roberts, Enzo Ranieri, Peter Roy Clements, Sharon Byers, and Donald S. Anson. "Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA." Molecular Genetics and Metabolism 93, no. 4 (April 2008): 411–18. http://dx.doi.org/10.1016/j.ymgme.2007.11.008.

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17

Zapolnik, Paweł, and Antoni Pyrkosz. "Gene Therapy for Mucopolysaccharidosis Type II—A Review of the Current Possibilities." International Journal of Molecular Sciences 22, no. 11 (May 23, 2021): 5490. http://dx.doi.org/10.3390/ijms22115490.

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Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder based on a mutation in the IDS gene that encodes iduronate 2-sulphatase. As a result, there is an accumulation of glycosaminoglycans—heparan sulphate and dermatan sulphate—in almost all body tissues, which leads to their dysfunction. Currently, the primary treatment is enzyme replacement therapy, which improves the course of the disease by reducing somatic symptoms, including hepatomegaly and splenomegaly. The enzyme, however, does not cross the blood–brain barrier, and no improvement in the function of the central nervous system has been observed in patients with the severe form of the disease. An alternative method of treatment that solves typical problems of enzyme replacement therapy is gene therapy, i.e., delivery of the correct gene to target cells through an appropriate vector. Much progress has been made in applying gene therapy for MPS II, from cellular models to human clinical trials. In this article, we briefly present the history and basics of gene therapy and discuss the current state of knowledge about the methods of this therapy in mucopolysaccharidosis type II.

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18

Laufer, Ralph, Philippe Drevot, Michaël Hocquemiller, Bérangère Deleglise, Marie Deneux, Karen Pignet-Aiach, and Xavier Frapaise. "AAVance gene therapy study in children with mucopolysaccharidosis type IIIA." Molecular Genetics and Metabolism 135, no. 2 (February 2022): S71—S72. http://dx.doi.org/10.1016/j.ymgme.2021.11.181.

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19

Sleeper, M. M., B. Fornasari, N. M. Ellinwood, M. A. Weil, J. Melniczek, T. M. O’Malley, C. D. Sammarco, L. Xu, K. P. Ponder, and M. E. Haskins. "Gene Therapy Ameliorates Cardiovascular Disease in Dogs With Mucopolysaccharidosis VII." Circulation 110, no. 7 (August 17, 2004): 815–20. http://dx.doi.org/10.1161/01.cir.0000138747.82487.4b.

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20

Gurda, Brittney, Peter Bell, Yanqing Zhu, Ping Wang, Patty O'Donnell, Julio Sanmiguel, Luk Vandenberghe, Mark Haskins, and James Wilson. "Liver-Directed Gene Therapy for Mucopolysaccharidosis Type I (MPS I)." Molecular Genetics and Metabolism 105, no. 2 (February 2012): S32. http://dx.doi.org/10.1016/j.ymgme.2011.11.067.

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21

Gorbunova, V. N., and N. V. Buchinskaya. "Lysosomal storage diseases. Mucopolysaccharidosis type III, sanfilippo syndrome." Pediatrician (St. Petersburg) 12, no. 4 (December 13, 2021): 69–81. http://dx.doi.org/10.17816/ped12469-81.

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The review describes the clinical, biochemical and molecular genetic characteristics of autosomal recessive mucopolysaccharidosis type III, or Sanfilippo syndrome. This is a genetically heterogeneous group of rare, but similar in nature, diseases caused by a deficiency of one of the four lysosomal enzymes involved in the degradation of heparan sulfate. All types of mucopolysaccharidosis III are characterized by severe degeneration of the central nervous system in combination with mild somatic manifestations, which is explained by the accumulation of high concentrations of heparan sulfate in the lysosomes of various cells, including the central nervous system. The primary biochemical defect in the most common type of mucopolysaccharidosis IIIA, occurring with a frequency of 1 : 105 and presented in 60% of all cases of the disease, is heparan-N-sulfatase, or sulfamidase deficiency. Mucopolysaccharidosis IIIB type occurs twice less often and accounts for about 30% of all cases of Sanfilippo syndrome. It is caused by the presence of inactivating mutations in the lysosomal -N-acetylglucosaminidase gene. Mucopolysaccharidosis IIIC and IIID are 4% and 6%, and occur at frequencies of 0.7 and 1.0 : 106. Mucopolysaccharidosis IIIC is caused by inactivating mutations in the gene of membrane-bound lysosomal acetyl-CoA:-glucosaminid-N-acetyltransferase, or N-acetyltransferase. Mucopolysaccharidosis IIID is based on the deficiency of lysosomal N-acetylglucosamine-6-sulfatase. The role of experimental models in the study of the biochemical basis of the pathogenesis of Sanfilippo syndrome and the development of various therapeutic approaches are discussed. The possibility of neonatal screening, early diagnosis, prevention and pathogenetic therapy of these severe lysosomal diseases are considered. As an example, a clinical case of diagnosis and treatment of a child with type IIIB mucopolysaccharidosis is presented.

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22

Gieselmann, Volkmar, Ulrich Matzner, Diana Klein, Jan Eric Mansson, Rudi D'Hooge, Peter D. DeDeyn, Renate Lüllmann Rauch, Dieter Hartmann, and Klaus Harzer. "Gene therapy: prospects for glycolipid storage diseases." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 358, no. 1433 (May 29, 2003): 921–25. http://dx.doi.org/10.1098/rstb.2003.1277.

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Lysosomal storage diseases comprise a group of about 40 disorders, which in most cases are due to the deficiency of a lysosomal enzyme. Since lysosomal enzymes are involved in the degradation of various compounds, the diseases can be further subdivided according to which pathway is affected. Thus, enzyme deficiencies in the degradation pathway of glycosaminoglycans cause mucopolysaccharidosis, and deficiencies affecting glycopeptides cause glycoproteinosis. In glycolipid storage diseases enzymes are deficient that are involved in the degradation of sphingolipids. Mouse models are available for most of these diseases, and some of these mouse models have been used to study the applicability of in vivo gene therapy. We review the rationale for gene therapy in lysosomal disorders and present data, in particular, about trials in an animal model of metachromatic leukodystrophy. The data of these trials are compared with those obtained with animal models of other lysosomal diseases.

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23

Kubaski, Francyne, Filippo Vairo, Guilherme Baldo, Fabiano de Oliveira Poswar, Amauri Dalla Corte, and Roberto Giugliani. "Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease)." Current Pharmaceutical Design 26, no. 40 (November 27, 2020): 5100–5109. http://dx.doi.org/10.2174/1381612826666200724161504.

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Background: Mucopolysaccharidosis type II (Hunter syndrome, or MPS II) is an X-linked lysosomal disorder caused by the deficiency of iduronate-2-sulfatase, which leads to the accumulation of glycosaminoglycans (GAGs) in a variety of tissues, resulting in a multisystemic disease that can also impair the central nervous system (CNS). Objective: This review focuses on providing the latest information and expert opinion about the therapies available and under development for MPS II. Methods: We have comprehensively revised the latest studies about hematopoietic stem cell transplantation (HSCT), enzyme replacement therapy (ERT - intravenous, intrathecal, intracerebroventricular, and intravenous with fusion proteins), small molecules, gene therapy/genome editing, and supportive management. Results and Discussion: Intravenous ERT is a well-established specific therapy, which ameliorates the somatic features but not the CNS manifestations. Intrathecal or intracerebroventricular ERT and intravenous ERT with fusion proteins, presently under development, seem to be able to reduce the levels of GAGs in the CNS and have the potential of reducing the impact of the neurological burden of the disease. Gene therapy and/or genome editing have shown promising results in preclinical studies, bringing hope for a “one-time therapy” soon. Results with HSCT in MPS II are controversial, and small molecules could potentially address some disease manifestations. In addition to the specific therapeutic options, supportive care plays a major role in the management of these patients. Conclusion: At this time, the treatment of individuals with MPS II is mainly based on intravenous ERT, whereas HSCT can be a potential alternative in specific cases. In the coming years, several new therapy options that target the neurological phenotype of MPS II should be available.

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24

Di Natale, Paola, Carmela Di Domenico, Guglielmo R. D. Villani, Angelo Lombardo, Antonia Follenzi, and Luigi Naldini. "In vitro gene therapy of mucopolysaccharidosis type I by lentiviral vectors." European Journal of Biochemistry 269, no. 11 (May 26, 2002): 2764–71. http://dx.doi.org/10.1046/j.1432-1033.2002.02951.x.

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25

Haurigot, Virginia, Sara Marcó, Albert Ribera, Miguel Garcia, Albert Ruzo, Pilar Villacampa, Eduard Ayuso, et al. "Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy." Journal of Clinical Investigation 123, no. 8 (July 1, 2013): 3254–71. http://dx.doi.org/10.1172/jci66778.

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26

Alméciga-Diaz, Carlos J., and Luis A. Barrera. "Design and applications of gene therapy vectors for mucopolysaccharidosis in Colombia." Gene Therapy 27, no. 1-2 (July 2, 2019): 104–7. http://dx.doi.org/10.1038/s41434-019-0086-3.

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27

Chen, Yonghong, Shujuan Zheng, Luis Tecedor, and Beverly L. Davidson. "Overcoming Limitations Inherent in Sulfamidase to Improve Mucopolysaccharidosis IIIA Gene Therapy." Molecular Therapy 26, no. 4 (April 2018): 1118–26. http://dx.doi.org/10.1016/j.ymthe.2018.01.010.

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28

Ponder, Katherine P., Thomas M. O'Malley, Ping Wang, Patricia A. O'Donnell, Anne M. Traas, Van W. Knox, Gustavo A. Aguirre, et al. "Neonatal Gene Therapy With a Gamma Retroviral Vector in Mucopolysaccharidosis VI Cats." Molecular Therapy 20, no. 5 (May 2012): 898–907. http://dx.doi.org/10.1038/mt.2012.9.

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29

Hinderer, C., P. Bell, B. L. Gurda, Q. Wang, J. P. Louboutin, Y. Zhu, J. Bagel, et al. "Liver-directed gene therapy corrects cardiovascular lesions in feline mucopolysaccharidosis type I." Proceedings of the National Academy of Sciences 111, no. 41 (September 29, 2014): 14894–99. http://dx.doi.org/10.1073/pnas.1413645111.

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30

Ou, Li, Michael J. Przybilla, Brenda L. Koniar, and Chester B. Whitley. "Elements of lentiviral vector design toward gene therapy for treating mucopolysaccharidosis I." Molecular Genetics and Metabolism Reports 8 (September 2016): 87–93. http://dx.doi.org/10.1016/j.ymgmr.2015.11.004.

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31

Mikhaylova, S. V., A. N. Slateckay, E. A. Pristanskova, K. I. Kirgizov, O. V. Mendelevich, M. V. Zazhivikhina, V. P. Voroncova, et al. "Mucopolysaccharidosis I type: new management." Pediatric Hematology/Oncology and Immunopathology 17, no. 4 (January 13, 2019): 35–42. http://dx.doi.org/10.24287/1726-1708-2018-17-4-35-42.

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Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. Allogeneic hematopoietic stem cell transplantation (HSCT) is currently the gold standard for the treatment of MPS I-H in patients diagnosed and treated before 2–2.5 years of age, having a high rate of success. Enzyme replacement therapy (ERT) with human recombinant laronidase has also been demonstrated to be effective in ameliorating the clinical conditions of pre-transplant MPS I-H patients and in improving HSCT outcome, by peri-transplant co-administration. Nevertheless the long-term clinical outcome even after successful HSCT varies considerably, with a persisting residual disease burden. This review will focus on all these critical issues related to the management of MPS I-H.

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32

Burlutskaya, A. V., N. V. Savel′eva, and G. V. Naumenko. "Mucopolysaccharidosis type IVA in children: Clinical cases." Kuban Scientific Medical Bulletin 29, no. 1 (January 25, 2022): 119–31. http://dx.doi.org/10.25207/1608-6228-2022-29-1-119-131.

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Background. Mucopolysaccharidosis type IVA (Morquio syndrome) is a rare genetic lysosomal storage disease. Due to rarity, the syndrome is typically diagnosed at a later stage of gross affections of musculoskeletal and central nervous systems, leading to disability and a markedly reduced quality of life. A replacement therapy is nowadays available with recombinant human N-acetylgalactosamine-6-sulfatase (elosulfase alfa) enzyme.Clinical cases description. Two siblings, 10-yo male and 8-yo female, were admitted with complaints of growth retardation, deformity of the spine, thorax and joints, impaired hearing and visual acuity, poor tolerance to exercise. In the boy’s medical history, ﬁrst manifestations appeared in the ﬁrst year of life and progressed gradually; the patient was being observed as spondylodysplastic. Mental development was unaffected. The diagnosis was conﬁrmed only by age of 7 at the National Medical Research Center for Children's Health Federal State Autonomous Institution of the Ministry of Health of the Russian Federation. Genotyping revealed two SNP mutations in gene GALNS (g.88909227C>A and g.88884454G>A in heterozygous state), and enzymatic assays — a severely reduced N-acetylgalactosamin-6-sulfatase activity. A routine elosulfase alfa replacement therapy has been received since 8-year age.The younger sister had neonatal cardiomegaly; congenital carditis and cardiomyopathy not excluded. Musculoskeletal affections developed by age of 3–4 years. By age of 5 and simultaneously with brother, the same GALNS mutations and severely impaired N-acetylgalactosamine-6-sulfatase activity were detected. A replacement therapy has been routinely received since 6-year age. The therapy triggered positive dynamics of restoring activity and muscle strength in both children, as well as signiﬁcantly abating the musculoskeletal affection progress.Conclusion. The clinical cases of Morquio syndrome presented demonstrate its long-term and complex diagnosis. A replacement therapy is nowadays available, which warrants an earliest disease detection to halt progression and improve the patient’s life quality and expectancy.

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33

Gentner, Bernhard, Maria Ester Bernardo, Francesca Tucci, Francesca Fumagalli, Silvia Pontesilli, Paolo Silvani, Erika Zonari, et al. "Ex vivo hematopoietic stem cell gene therapy for mucopolysaccharidosis type I (Hurler syndrome)." Molecular Genetics and Metabolism 132, no. 2 (February 2021): S42—S43. http://dx.doi.org/10.1016/j.ymgme.2020.12.087.

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34

Braun, Stephen E., Dao Pan, Elena L. Aronovich, Jon J. Jonsson, R. Scott McIvor, and Chester B. Whitley. "Preclinical Studies of Lymphocyte Gene Therapy for Mild Hunter Syndrome (Mucopolysaccharidosis Type II)." Human Gene Therapy 7, no. 3 (February 10, 1996): 283–90. http://dx.doi.org/10.1089/hum.1996.7.3-283.

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35

Domenico, Carmela Di, Guglielmo R. D. Villani, Daniele Di Napoli, Enrico Gonzalez Y. Reyero, Angelo Lombardo, Luigi Naldini, and Paola Di Natale. "Gene Therapy for a Mucopolysaccharidosis Type I Murine Model with Lentiviral-IDUA Vector." Human Gene Therapy 16, no. 1 (January 2005): 81–90. http://dx.doi.org/10.1089/hum.2005.16.81.

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36

Hinderer, Christian, Peter Bell, Brittney L. Gurda, Qiang Wang, Jean-Pierre Louboutin, Yanqing Zhu, Jessica Bagel, et al. "Intrathecal Gene Therapy Corrects CNS Pathology in a Feline Model of Mucopolysaccharidosis I." Molecular Therapy 22, no. 12 (December 2014): 2018–27. http://dx.doi.org/10.1038/mt.2014.135.

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37

Bigger, Brian, Stuart Ellison, Daniel Fil, Claire O'leary, John McDermott, N. Senthivel, Alexander Langford-Smith, et al. "Neurological correction of mucopolysaccharidosis type IIIB mice by haematopoietic stem cell gene therapy." Molecular Genetics and Metabolism 120, no. 1-2 (January 2017): S28. http://dx.doi.org/10.1016/j.ymgme.2016.11.043.

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38

Scott McIvor, R., Karen Kozarsky, Kanut Laoharawee, Kelly M. Podetz-Pedersen, Kelley Kitto, Maureen Riedl, Chester B. Whitley, et al. "Relative effectiveness of different routes of AAV administration for gene therapy of mucopolysaccharidosis." Molecular Genetics and Metabolism 120, no. 1-2 (January 2017): S93. http://dx.doi.org/10.1016/j.ymgme.2016.11.230.

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39

Kan, Shih-hsin, Haoyue Zhang, Jodi D. Smith, Elizabeth M. Snella, Aminian Afshin, Jackie K. Jens, Bethann Valentine, et al. "Intra-articular AAV9 α-iduronidase gene therapy in mucopolysaccharidosis type I canine model." Molecular Genetics and Metabolism 129, no. 2 (February 2020): S82—S83. http://dx.doi.org/10.1016/j.ymgme.2019.11.202.

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Ellison, Stuart M., Rebecca Holley, Daniel Fil, John Mc Dermott, Nisha Senthivel, Alex Langford-Smith, Fiona Wilkinson, et al. "364. Neurological Correction of Mucopolysaccharidosis IIIB Mice by Haematopoietic Stem Cell Gene Therapy." Molecular Therapy 24 (May 2016): S146. http://dx.doi.org/10.1016/s1525-0016(16)33173-2.

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Smith, Lachlan J., John T. Martin, Patricia O'Donnell, Ping Wang, Dawn M. Elliott, Mark E. Haskins, and Katherine P. Ponder. "Effect of neonatal gene therapy on lumbar spine disease in mucopolysaccharidosis VII dogs." Molecular Genetics and Metabolism 107, no. 1-2 (September 2012): 145–52. http://dx.doi.org/10.1016/j.ymgme.2012.03.013.

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42

Kamata, Yuko, Torayuki Okuyama, Motomichi Kosuga, Aya O'hira, Arihiko Kanaji, Kyoko Sasaki, Masao Yamada, and Noriyuki Azuma. "Adenovirus-Mediated Gene Therapy for Corneal Clouding in Mice with Mucopolysaccharidosis Type VII." Molecular Therapy 4, no. 4 (October 2001): 307–12. http://dx.doi.org/10.1006/mthe.2001.0461.

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43

Levina, Julia G., Nato D. Vashakmadze, Leyla S. Namazova-Baranova, Elena A. Vishneva, Natalia V. Zhurkova, Kamilla E. Efendieva, Anna A. Alekseeva, and Vera G. Kalugina. "Allergic Reactions at Enzyme Replacement Therapy in Children with Mucopolysaccharidosis Type II." Current Pediatrics 20, no. 6s (December 17, 2021): 624–29. http://dx.doi.org/10.15690/vsp.v20i6s.2372.

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Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is rare hereditary disease caused by changes in the IDS gene and associated deficiency of lysosomal enzyme iduronate-2-sulfatase (I2S). The main treatment scheme for children with MPS II is enzyme replacement therapy (ERT) with recombinant human I2S. The major issue of ERT is development of allergic (sometimes up to severe anaphylaxis) reactions to recombinant enzymes. The article covers features of infusion-related reactions to ERT, it describes pathogenesis, diagnostic criteria management algorithm of anaphylaxis. Whereas, there is the need of further studies on allergic infusion-related reactions to ERT in children.

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Di NATALE, Paola, Carmela Di DOMENICO, Nadia GARGIULO, Sigismondo CASTALDO, Enrico GONZALEZ Y. REYERO, Pratibha MITHBAOKAR, Mario De FELICE, Antonia FOLLENZI, Luigi NALDINI, and Guglielmo R. D. VILLANI. "Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector." Biochemical Journal 388, no. 2 (May 24, 2005): 639–46. http://dx.doi.org/10.1042/bj20041702.

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The Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is an autosomal recessive disorder due to mutations in the gene encoding NAGLU (α-N-acetylglucosaminidase), one of the enzymes required for the degradation of the GAG (glycosaminoglycan) heparan sulphate. No therapy exists for affected patients. We have shown previously the efficacy of lentiviral-NAGLU-mediated gene transfer in correcting in vitro the defect on fibroblasts of patients. In the present study, we tested the therapy in vivo on a knockout mouse model using intravenous injections. Mice (8–10 weeks old) were injected with one of the lentiviral doses through the tail vein and analysed 1 month after treatment. A single injection of lentiviral-NAGLU vector resulted in transgene expression in liver, spleen, lung and heart of treated mice, with the highest level reached in liver and spleen. Expression of 1% normal NAGLU activity in liver resulted in a 77% decrease in the GAG content; more remarkably, an expression of 0.16% normal activity in lung was capable of decreasing the GAG level by 29%. Long-term (6 months) follow up of the gene therapy revealed that the viral genome integration persisted in the target tissues, although the real-time PCR analysis showed a decrease in the vector DNA content with time. Interestingly, the decrease in GAG levels was maintained in liver, spleen, lung and heart of treated mice. These results show the promising potential and the limitations of lentiviral-NAGLU vector to deliver the human NAGLU gene in vivo.

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Gorbunova, Victoria N. "Congenital metabolic diseases. Lysosomal storage diseases." Pediatrician (St. Petersburg) 12, no. 2 (August 11, 2021): 73–83. http://dx.doi.org/10.17816/ped12273-83.

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The classification and epidemiology of hereditary metabolic disorders are presented. That is a large group consisting from more them 800 monogenic diseases, each of which caused by inherited deficiency of certain metabolic fate. Many of these disorders are extremely rare, but their total incidence in the population is close to 1:10005000. Lysosomal storage diseases (LSD) resulting from inherited deficiency in lysosomal functions occupy a special place among hereditary metabolic disorders. The defects of catabolism cause the accumulation of undigested or partially digested macromolecules in lysosomes (that is, storage), which can result in cellular damage. About 60 diseases take part in this group with total incidence of about 1:70008000. LSDs typically present in infancy and childhood, although adult-onset forms also occur. Most of them have a progressive neurodegenerative clinical course, although symptoms in other organ systems are frequent. The etiology and pathogenetic aspects of their main clinical entities: mucopolysaccharidosis, glycolipidosis, mucolipidosis, glycoproteinosis, etc, are presented. Mucopolysaccharidoses caused by malfunctioning of lysosomal enzymes needed to break down glycosaminoglycans are more frequent among LSD. Sphingolipidoses caused by defects of lipid catabolism are second for frequency group of LSD. The state-of-art in field of newborn screening. clinical, biochemical and molecular diagnostics of these grave diseases are discussed. The main directions of modern lysosomal storage diseases therapy are characterized: transplantation of hematopoietic stem cells; enzyme replacement therapy; therapy with limitation of substrate synthesis (substrate-reducing therapy); pharmacological chaperone therapy. Perspective directions for LSD therapy are gene therapy and genome editing which are at advanced preclinical stages.

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Ohashi, Toya, Takashi Yokoo, Sayoko Iizuka, Hiroshi Kobayashi, William S. Sly, and Yoshikatsu Eto. "Reduction of lysosomal storage in murine mucopolysaccharidosis type VII by transplantation of normal and genetically modified macrophages." Blood 95, no. 11 (June 1, 2000): 3631–33. http://dx.doi.org/10.1182/blood.v95.11.3631.

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Abstract This study examined the ability of macrophages to serve as target cells of gene therapy for mucopolysaccharidosis (MPS) type VII using a murine model. Bone marrow cells were harvested from syngeneic normal mice and differentiated to macrophages. These cells were given to nonmyeloablated MPS VII mice. After transplantation, donor cells populated the liver and spleen. The pathologic improvement at day 38 after transplantation was significant and glycosaminoglycan storage was reduced. To develop gene therapy using this system, a retroviral vector expressing human β-glucuronidase (HBG) was used to infect macrophages cultivated from MPS VII mice and given to nonmyeloablated MPS VII mice. At 38 days after transplantation, HBG-positive cells were still observed histochemically and pathologic improvement was significant. These observations suggest that macrophage transplantation is a promising method for treatment of murine MPS VII without myeloablation, and macrophages may be good target cells for ex vivo gene therapy for MPS VII.

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Ohashi, Toya, Takashi Yokoo, Sayoko Iizuka, Hiroshi Kobayashi, William S. Sly, and Yoshikatsu Eto. "Reduction of lysosomal storage in murine mucopolysaccharidosis type VII by transplantation of normal and genetically modified macrophages." Blood 95, no. 11 (June 1, 2000): 3631–33. http://dx.doi.org/10.1182/blood.v95.11.3631.011k13_3631_3633.

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Abstract:

This study examined the ability of macrophages to serve as target cells of gene therapy for mucopolysaccharidosis (MPS) type VII using a murine model. Bone marrow cells were harvested from syngeneic normal mice and differentiated to macrophages. These cells were given to nonmyeloablated MPS VII mice. After transplantation, donor cells populated the liver and spleen. The pathologic improvement at day 38 after transplantation was significant and glycosaminoglycan storage was reduced. To develop gene therapy using this system, a retroviral vector expressing human β-glucuronidase (HBG) was used to infect macrophages cultivated from MPS VII mice and given to nonmyeloablated MPS VII mice. At 38 days after transplantation, HBG-positive cells were still observed histochemically and pathologic improvement was significant. These observations suggest that macrophage transplantation is a promising method for treatment of murine MPS VII without myeloablation, and macrophages may be good target cells for ex vivo gene therapy for MPS VII.

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Provoost, Lena, Carlo Siracusa, Darko Stefanovski, Yan Che, Mingyao Li, and Margret Casal. "Cognitive Abilities of Dogs with Mucopolysaccharidosis I: Learning and Memory." Animals 10, no. 3 (February 28, 2020): 397. http://dx.doi.org/10.3390/ani10030397.

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Mucopolysaccharidosis I (MPS I) results from a deficiency of a lysosomal enzyme, alpha-L-iduronidase (IDUA). IDUA deficiency leads to glycosaminoglycan (GAG) accumulation resulting in cellular degeneration and multi-organ dysfunction. The primary aims of this pilot study were to determine the feasibility of cognitive testing MPS I affected dogs and to determine their non-social cognitive abilities with and without gene therapy. Fourteen dogs were tested: 5 MPS I untreated, 5 MPS I treated, and 4 clinically normal. The treated group received intrathecal gene therapy as neonates to replace the IDUA gene. Cognitive tests included delayed non-match to position (DNMP), two-object visual discrimination (VD), reversal learning (RL), attention oddity (AO), and two-scent discrimination (SD). Responses were recorded as correct, incorrect, or no response, and analyzed using mixed effect logistic regression analysis. Significant differences were not observed among the three groups for DNMP, VD, RL, or AO. The MPS I untreated dogs were excluded from AO testing due to failing to pass acquisition of the task, potentially representing a learning or executive function deficit. The MPS I affected group (treated and untreated) was significantly more likely to discriminate between scents than the normal group, which may be due to an age effect. The normal group was comprised of the oldest dogs, and a mixed effect logistic model indicated that older dogs were more likely to respond incorrectly on scent discrimination. Overall, this study found that cognition testing of MPS I affected dogs to be feasible. This work provides a framework to refine future cognition studies of dogs affected with diseases, including MPS I, in order to assess therapies in a more comprehensive manner.

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Patel, Kruti, Laura Smith, Jacinthe Gingras, Alec Tzianabos, Lindsay Schulman, Victor Zhivich, Monicah Kivaa, et al. "HMI-203: Investigational gene therapy for mucopolysaccharidosis type II (MPS II), or Hunter syndrome." Molecular Genetics and Metabolism 132, no. 2 (February 2021): S82. http://dx.doi.org/10.1016/j.ymgme.2020.12.195.

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Tomanin, R., A. Friso, S. Alba, E. Piller Puicher, C. Mennuni, N. La Monica, G. Hortelano, F. Zacchello, and M. Scarpa. "Non-viral transfer approaches for the gene therapy of mucopolysaccharidosis type II (Hunter syndrome)." Acta Paediatrica 91 (January 2, 2007): 100–104. http://dx.doi.org/10.1111/j.1651-2227.2002.tb03119.x.

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