Unrelated CD3/CD19-Depleted Peripheral Stem Cell Transplantation for Hurler Syndrome

Schwinger, Wolfgang; Sovinz, Petra; Benesch, Martin; Lackner, Herwig; Seidel, Markus G.; Strenger, Volker; Sperl, Daniela; Raicht, Andrea; Brunner‐Krainz, Michaela; Paschke, Eduard; Plecko, Barbara; Urban, C

doi:10.3109/08880018.2014.939794

Cited by 3 publications

(2 citation statements)

References 24 publications

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“…Pediatric patients with MPS I, who received a conditioning regimen consisting of treosulfan, achieved stable hematopoietic engraftment and stable donor chimerism without GVHD. The regimen with treosulfan could be an additional option when unrelated donor HSCT is considered for a patient with MPS [33]. A pilot study of treosulfan in our facility showed the better outcomes for pediatric patients with metabolic disorders treated by HSCT.…”

Section: Discussionmentioning

confidence: 99%

Hematopoietic stem cell transplantation for Morquio A syndrome

Yabe

Tanaka²,

Chinen

et al. 2016

Molecular Genetics and Metabolism

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Morquio A syndrome features systemic skeletal dysplasia. To date, there has been no curative therapy for this skeletal dysplasia. No systemic report on a long-term effect of hematopoietic stem cell transplantation (HSCT) for Morquio A has been described. We conducted HSCT for 4 cases with Morquio A (age at HSCT: 4–15 years, mean 10.5 years) and followed them at least 10 years (range 11–28 years; mean 19 years). Current age ranged between 25 and 36 years of age (mean 29.5 years). All cases had a successful full engraftment of allogeneic bone marrow transplantation without serious GVHD. Transplanted bone marrow derived from HLA-identical siblings (three cases) or HLA-identical unrelated donor. The levels of the enzyme activity in the recipient’s lymphocytes reached the levels of donors’ enzyme activities within two years after HSCT. For the successive over 10 years post-BMT, GALNS activity in lymphocytes was maintained at the same level as the donors. Except one case who had osteotomy in both legs one year later post BMT, other three cases had no orthopedic surgical intervention. All cases remained ambulatory, and three of them could walk over 400 m. Activity of daily living (ADL) in patients with HSCT was better than untreated patients. The patient who underwent HSCT at four years of age showed the best ADL score. In conclusion, the long-term study of HSCT has demonstrated therapeutic effect in amelioration of progression of the disease in respiratory function, ADL, and biochemical findings, suggesting that HSCT is a therapeutic option for patients with Morquio A.

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Section: Discussionmentioning

confidence: 99%

Hematopoietic stem cell transplantation for Morquio A syndrome

Yabe

Tanaka²,

Chinen

et al. 2016

Molecular Genetics and Metabolism

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“…Pediatric MPS patients, who received a conditioning regimen consisting of treosulfan and others, achieved stable hematopoietic engraftment and stable donor chimerism without GVHD. The regimen with treosulfan could be an additional option when unrelated donor HSCT is considered for a patient with MPS (Schwinger et al 2014 ) although the donor cell engraftment into the brain might be limited with this type of transplant. The long-term observation of HSCT with treosulfan is required.…”

Section: Advent Of Newborn Screening Programs and Future Neonatal Thementioning

confidence: 99%

Neonatal cellular and gene therapies for mucopolysaccharidoses: the earlier the better?

Tomatsu

Azario

Sawamoto

et al. 2015

J of Inher Metab Disea

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Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders (LSDs). The increasing interest in newborn screening procedures for LSDs underlines the need for alternative cellular and gene therapy approaches to be developed during the perinatal period, supporting the treatment of MPS patients before the onset of clinical signs and symptoms. The rationale for considering these early therapies results from the clinical experience in the treatment of MPSs and other genetic disorders. The normal or gene-corrected hematopoiesis transplanted in patients can produce the missing protein at levels sufficient to improve and/or halt the disease-related abnormalities. However, these current therapies are only partially successful, probably due to the limited efficacy of the protein provided through the hematopoiesis. An alternative explanation is that the time at which the cellular or gene therapy procedures are performed could be too late to prevent pre-existing or progressive organ damage. Considering these aspects, in the last several years, novel cellular and gene therapy approaches have been tested in different animal models at birth, a highly early stage, showing that precocious treatment is critical to prevent long-term pathological consequences. This review provides insights into the state-of-art accomplishments made with neonatal cellular and gene-based therapies and the major barriers that need to be overcome before they can be implemented in the medical community.

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