Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group

Köhn, Anja; Grigull, Lorenz; Moulin, Marcel du; Kabisch, Sarah; Ammer, Luise; Rudolph, Cornelia; Muschol, Nicole

doi:10.1016/j.ymgmr.2020.100578

Cited by 13 publications

(11 citation statements)

References 28 publications

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“…Unfortunately, there is no approved treatment for these neurological diseases. On the one hand, while it has already been attempted by several different teams, HSCT has proven virtually no benefit over the neurocognitive symptoms [ 15 , 16 , 17 , 18 , 19 ]. On the other hand, ERT is hard to apply, since classically formulated enzymes do not penetrate the CNS.…”

Section: Mucopolysaccharidosesmentioning

confidence: 99%

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses

et al. 2023

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Despite extensive research, the links between the accumulation of glycosaminoglycans (GAGs) and the clinical features seen in patients suffering from various forms of mucopolysaccharidoses (MPSs) have yet to be further elucidated. This is particularly true for the neuropathology of these disorders; the neurological symptoms are currently incurable, even in the cases where a disease-specific therapeutic approach does exist. One of the best ways to get insights on the molecular mechanisms driving that pathogenesis is the analysis of patient-derived cells. Yet, not every patient-derived cell recapitulates relevant disease features. For the neuronopathic forms of MPSs, for example, this is particularly evident because of the obvious inability to access live neurons. This scenario changed significantly with the advent of induced pluripotent stem cell (iPSC) technologies. From then on, a series of differentiation protocols to generate neurons from iPSC was developed and extensively used for disease modeling. Currently, human iPSC and iPSC-derived cell models have been generated for several MPSs and numerous lessons were learnt from their analysis. Here we review most of those studies, not only listing the currently available MPS iPSC lines and their derived models, but also summarizing how they were generated and the major information different groups have gathered from their analyses. Finally, and taking into account that iPSC generation is a laborious/expensive protocol that holds significant limitations, we also hypothesize on a tempting alternative to establish MPS patient-derived neuronal cells in a much more expedite way, by taking advantage of the existence of a population of multipotent stem cells in human dental pulp to establish mixed neuronal and glial cultures.

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Section: Mucopolysaccharidosesmentioning

confidence: 99%

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses

et al. 2023

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“…Разрабатываются препараты ферментозаместительной терапии, в т. ч. для интратекального введения [20]. Попытки трансплантации гемопоэтических стволовых клеток не предотвращали неврологическую прогрессию и когнитивные нарушения при относительной стабилизации двигательных способностей [21]. Сообщалось о разработке новой стратегии в лечении с применением аденоассоциированной или лентивирусной векторной опосредованной генной терапии [22].…”

Section: трудный диагнозunclassified

Type III mucopolysaccharidosis: literature review and clinical observation

et al. 2023

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Introduction. Mucopolysaccharidosis type III (Sanfilippo syndrome) is a rare multi-stem disease caused by the accumulation of glycosaminoglycans (GAG) in the cells of various organs, leading to a violation of their function, specific phentopic signs and progressive neurocognitive disorders. Neurologic manifestations are leading in the clinical picture of the disease, as by the time of manifestation, and by severity. In most patients, in the first and even second years of life, children have normal development or indistinctly pronounced deviations. In the absence of substitute enzyme therapy for this type of MPS, a severe delay in intellectual and speech development develops rapidly, recurrent respiratory episodes in the form of pneumonia and bronchial obstruction are observed, the child is disabled early. Polymorphism and non-specificity of clinical manifestations, lack of alertness of doctors to orphan diseases are a common cause of late diagnosis of MPS. The article presents an overview of data on the prevalence, genetic and phenotypic variants of type III mucopolysaccharidosis, features of patient management and presentation of clinical observation of a child with this pathology.Clinical observation. We present our own prolonged clinical observation of a type III MPS case in a patient who has been under our supervision for 12 years. The diagnosis was established and confirmed at the age of three years. The disease was manifested by neuropsychiatric regression and systemic somatic manifestations. Motor deficits, cognitive impairments with the development of dementia and recurrent aspiration syndrome progressed in the dynamics of the child.Conclusions. The classical clinical picture of type III MPS is distinguished by the aggressive development of cognitive and motor disorders at 2–3 years of life, characteristic phenotypic and somatic manifestations of the disease. This case demonstrates the multiplicity of problems and the need for interaction between doctors of various specialties.

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“…Unfortunately, there is no approved treatment for these neurologic diseases. On the one hand, while it has already been attempted by several different teams, HSCT has proven virtually no benefit over the neurocognitive symptoms [68][69][70][71][72]. On the other hand, ERT is hard to apply, once classically formulated enzymes do not penetrate the CNS.…”

Section: Mucopolysaccharidosesmentioning

confidence: 99%

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step Towards Understanding and Treating Mucopolysaccharidoses

Carvalho¹,

Santos²,

Moreira³

et al. 2023

Preprint

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Despite extensive research, the links between the accumulation of glycosaminoglycans (GAGs) and the clinical features seen in patients suffering from various forms of Mucopolysaccharidoses (MPSs) have yet to be further elucidated. This is particularly true for the neuropathology of these disorders, even though the neurological symptoms are currently incurable, even in the cases where a dis-ease-specific therapeutic approach does exist. One of the best ways to get insights on the molecular mechanisms driving that pathogenesis is the analysis of patient-derived cells. Yet, not every pa-tient-derived cell holds potential to recapitulate relevant disease features. For the neurodegenerative forms of these diseases in particular, it is challenging to grow neuronal cultures that accurately represent them because of the obvious inability to access live neurons. This scenario changed sig-nificantly since Yamanaka et al. published their protocol for induction of pluripotent stem cells (SC) from adult human fibroblasts. From then on, a series of differentiation protocols to generate neurons from induced pluripotent stem cells (iPSC) was developed and extensively used for disease mod-eling. Currently, human iPSC and iPSC-derived cell models have been generated for several MPS and numerous lessons were learnt from their analysis. Here we review most of those studies, not only listing the currently available MPS iPSC lines and their derived models, but also summarizing how they were generated and the major information different groups have gathered from their analysis. Finally, and taking into account that iPSC generation is a laborious/expensive protocol that holds significant limitations, we also comment on a tempting alternative to establish MPS pa-tient-derived neuronal cells in a much more expedite way by taking advantage of the existence of a population of multipotent SC in human dental pulp, to establish mixed neuronal and glial cultures.

show abstract

Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group

Cited by 13 publications

References 28 publications

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses

Type III mucopolysaccharidosis: literature review and clinical observation

Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step Towards Understanding and Treating Mucopolysaccharidoses

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