Haematopoietic stem cell transplantation for mucopolysaccharidosis type <scp>VII</scp>: A case report

Sisinni, Luisa; Pineda, Mercédes; Coll, María Josep; Gort, Laura; Turon, Eulalia; Torrent, Montserrat; Ey, Anna; Tobajas, Eva; Badell, Isabel

doi:10.1111/petr.13278

Cited by 17 publications

(14 citation statements)

References 18 publications

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“…Prior to the approval of vestronidase alfa, there were no disease-specific treatments for mucopolysaccharidosis VII, and disease management predominantly focused on symptomatic and supportive care (e.g. physiotherapy and hydrotherapy) [ 37 – 39 ]. BMTs have been performed in a small number of patients with mucopolysaccharidosis VII, some of whom experienced marked clinical improvements, especially in motor function, although effects on neurological manifestations were equivocal [ 7 , 38 – 40 ].…”

Section: Current Status Of Vestronidase Alfa In Mucopolysaccharidosismentioning

confidence: 99%

Vestronidase Alfa: A Review in Mucopolysaccharidosis VII

McCafferty

Scott

2019

BioDrugs

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Mucopolysaccharidosis VII is an extremely rare, autosomal recessive lysosomal storage disorder characterized by a deficiency of β-glucuronidase activity, resulting in partial degradation and accumulation of GAGs in numerous tissues throughout the body, with consequent cellular damage and organ dysfunction. Enzyme replacement therapy (ERT) with intravenous vestronidase alfa (Mepsevii™), a recombinant form of human β-glucuronidase, is the first disease-specific therapy approved for the treatment of mucopolysaccharidosis VII in pediatric and adult patients. In the pivotal, blind start, phase 3 trial, 24 weeks of vestronidase alfa therapy significantly reduced urinary GAG (uGAG) excretion in patients with mucopolysaccharidosis VII. Based on a Multi-Domain Responder Index (MDRI; comprises six clinically important morbidity domains, with prespecified minimally important differences for each domain), most evaluable patients experienced an improvement in ≥ 1 domain during the 24-week primary assessment period (overall positive mean change of 0.5 domains). The clinical benefits of vestronidase alfa were sustained during longer-term treatment, as was the reduction in uGAG excretion. Vestronidase alfa has a manageable tolerability profile, with most adverse reactions of mild to moderate severity. Given the lack of treatment options and the clinical benefits it provides, intravenous vestronidase alfa is an important emerging ERT for patients with mucopolysaccharidosis VII.

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Section: Current Status Of Vestronidase Alfa In Mucopolysaccharidosismentioning

confidence: 99%

Vestronidase Alfa: A Review in Mucopolysaccharidosis VII

McCafferty

Scott

2019

BioDrugs

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“…HSCT is based on the supply of deficient enzymes through nondeficient GUS-producing hematopoietic cells and its derivatives like brain microglia [10]. To date, 10 cases treated with HSCT have been reported in patients with MPS VII [3,8,[11][12][13][14]; two of them underwent HSCT at a later stage, i.e., 7 and 12 years of age [3]. One patient was of unknown age, while the remaining seven underwent HSCT before 4 years of age [3,[11][12][13][14].…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…Two long-term follow-up reports after HSCT were reported [3,13]. The case of transplantation at 2 years of age and retransplantation at the age of three and a half years had scoliosis but proper neurological development for six years [13]. The case transplanted at 3 years of age showed moderate physical and neurological symptoms; however, the symptoms had been maintained for 12 years [3].…”

Section: Discussionmentioning

confidence: 99%

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Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis

et al. 2020

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The effectiveness of hematopoietic stem cell transplantation (HSCT) for type-VII mucopolysaccharidosis (MPS VII, Sly syndrome) remains controversial, although recent studies have shown that it has a clinical impact. In 1998, Yamada et al. reported the first patient with MPS VII, who underwent HSCT at 12 years of age. Here, we report the results of a 22-year follow-up of that patient post-HSCT, who harbored the p.Ala619Val mutation associated with an attenuated phenotype. The purpose of this study was to evaluate changes in physical symptoms, the activity of daily living (ADL), and the intellectual status in the 34-year-old female MPS VII patient post-HSCT, and to prove the long-term effects of HSCT in MPS VII. Twenty-two years after HSCT, the β-glucuronidase activity in leukocytes remained at normal levels, and urinary glycosaminoglycan excretion was reduced and kept within normal levels. At present, she is capable of sustaining simple conversation, and her intellectual level is equivalent to that of a 6-year-old. She can walk alone and climb upstairs by holding onto a handrail, although she feels mild pain in the hip joint. The cervical vertebrae are fused with the occipital bone, causing dizziness and light-headedness when the neck is bent back. Overall, her clinical condition has been stabilized and kept well for long-term post-HSCT, indicating that HSCT is a therapeutic option for MPS VII.

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“…Allogeneic HSCT is recommended as a primary treatment for patients with MPS I [23,24] and MPS II [25,26], but has been debated within the field as a suitable treatment for MPS II [27]. Case studies have reported efficacy of HSCT in MPS IV [28], MPS VI [29], and MPS VII [30]. Issues of allogeneic HSCT include difficulties identifying suitable donors and risks of developing an immune response, i.e., graft-versus-host disease.…”

Section: Introductionmentioning

confidence: 99%

Cell and Gene Therapies for Mucopolysaccharidoses: Base Editing and Therapeutic Delivery to the CNS

2019

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Although individually uncommon, rare diseases collectively account for a considerable proportion of disease impact worldwide. A group of rare genetic diseases called the mucopolysaccharidoses (MPSs) are characterized by accumulation of partially degraded glycosaminoglycans cellularly. MPS results in varied systemic symptoms and in some forms of the disease, neurodegeneration. Lack of treatment options for MPS with neurological involvement necessitates new avenues of therapeutic investigation. Cell and gene therapies provide putative alternatives and when coupled with genome editing technologies may provide long term or curative treatment. Clustered regularly interspaced short palindromic repeats (CRISPR)-based genome editing technology and, more recently, advances in genome editing research, have allowed for the addition of base editors to the repertoire of CRISPR-based editing tools. The latest versions of base editors are highly efficient on-targeting deoxyribonucleic acid (DNA) editors. Here, we describe a number of putative guide ribonucleic acid (RNA) designs for precision correction of known causative mutations for 10 of the MPSs. In this review, we discuss advances in base editing technologies and current techniques for delivery of cell and gene therapies to the site of global degeneration in patients with severe neurological forms of MPS, the central nervous system, including ultrasound-mediated blood-brain barrier disruption.

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Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report

Cited by 17 publications

References 18 publications

Vestronidase Alfa: A Review in Mucopolysaccharidosis VII

Vestronidase Alfa: A Review in Mucopolysaccharidosis VII

Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis

Cell and Gene Therapies for Mucopolysaccharidoses: Base Editing and Therapeutic Delivery to the CNS

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