High-dose ERT, rituximab, and early HSCT in an infant with Wolman’s disease

Siawosh K. Eskandari; Elisabeth G.M. Revenich; Dirk J. Pot; Foekje de Boer; Marc Bierings; Francjan J. van Spronsen; Peter M. van Hasselt; Caroline A. Lindemans; Charlotte M.A. Lubout

doi:10.1056/NEJMoa2313398

High-dose ERT, rituximab, and early HSCT in an infant with Wolman’s disease

Siawosh K. Eskandari, Elisabeth G.M. Revenich, Dirk J. Pot, Foekje de Boer, Marc Bierings, Francjan J. van Spronsen, Peter M. van Hasselt^*, Caroline A. Lindemans^*, Charlotte M.A. Lubout^*

^*Corresponding author for this work

Center for Liver, Digestive and Metabolic Diseases (CLDM)

Research output: Contribution to journal › Article › Academic › peer-review

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Abstract

Wolman’s disease, a severe form of lysosomal acid lipase deficiency, leads to pathologic lipid accumulation in the liver and gut that, without treatment, is fatal in infancy. Although continued enzyme-replacement therapy (ERT) in combination with dietary fat restriction prolongs life, its therapeutic effect may wane over time. Allogeneic hematopoietic stem-cell transplantation (HSCT) offers a more definitive solution but carries a high risk of death. Here we describe an infant with Wolman’s disease who received high-dose ERT, together with dietary fat restriction and rituximab-based B-cell depletion, as a bridge to early HSCT. At 32 months, the infant was independent of ERT and disease-free, with 100% donor chimerism in the peripheral blood.

Original language	English
Pages (from-to)	623-629
Number of pages	7
Journal	New England Journal of Medicine
Volume	390
Issue number	7
DOIs	https://doi.org/10.1056/NEJMoa2313398
Publication status	Published - 14-Feb-2024

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High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman’s DiseaseFinal publisher's version, 417 KBLicence: Taverne

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title = "High-dose ERT, rituximab, and early HSCT in an infant with Wolman{\textquoteright}s disease",

abstract = "Wolman{\textquoteright}s disease, a severe form of lysosomal acid lipase deficiency, leads to pathologic lipid accumulation in the liver and gut that, without treatment, is fatal in infancy. Although continued enzyme-replacement therapy (ERT) in combination with dietary fat restriction prolongs life, its therapeutic effect may wane over time. Allogeneic hematopoietic stem-cell transplantation (HSCT) offers a more definitive solution but carries a high risk of death. Here we describe an infant with Wolman{\textquoteright}s disease who received high-dose ERT, together with dietary fat restriction and rituximab-based B-cell depletion, as a bridge to early HSCT. At 32 months, the infant was independent of ERT and disease-free, with 100% donor chimerism in the peripheral blood.",

author = "Eskandari, {Siawosh K.} and Revenich, {Elisabeth G.M.} and Pot, {Dirk J.} and {de Boer}, Foekje and Marc Bierings and {van Spronsen}, {Francjan J.} and {van Hasselt}, {Peter M.} and Lindemans, {Caroline A.} and Lubout, {Charlotte M.A.}",

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AU - Eskandari, Siawosh K.

AU - Revenich, Elisabeth G.M.

AU - Pot, Dirk J.

AU - de Boer, Foekje

AU - Bierings, Marc

AU - van Spronsen, Francjan J.

AU - van Hasselt, Peter M.

AU - Lindemans, Caroline A.

AU - Lubout, Charlotte M.A.

PY - 2024/2/14

Y1 - 2024/2/14

N2 - Wolman’s disease, a severe form of lysosomal acid lipase deficiency, leads to pathologic lipid accumulation in the liver and gut that, without treatment, is fatal in infancy. Although continued enzyme-replacement therapy (ERT) in combination with dietary fat restriction prolongs life, its therapeutic effect may wane over time. Allogeneic hematopoietic stem-cell transplantation (HSCT) offers a more definitive solution but carries a high risk of death. Here we describe an infant with Wolman’s disease who received high-dose ERT, together with dietary fat restriction and rituximab-based B-cell depletion, as a bridge to early HSCT. At 32 months, the infant was independent of ERT and disease-free, with 100% donor chimerism in the peripheral blood.

AB - Wolman’s disease, a severe form of lysosomal acid lipase deficiency, leads to pathologic lipid accumulation in the liver and gut that, without treatment, is fatal in infancy. Although continued enzyme-replacement therapy (ERT) in combination with dietary fat restriction prolongs life, its therapeutic effect may wane over time. Allogeneic hematopoietic stem-cell transplantation (HSCT) offers a more definitive solution but carries a high risk of death. Here we describe an infant with Wolman’s disease who received high-dose ERT, together with dietary fat restriction and rituximab-based B-cell depletion, as a bridge to early HSCT. At 32 months, the infant was independent of ERT and disease-free, with 100% donor chimerism in the peripheral blood.

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JO - New England Journal of Medicine

JF - New England Journal of Medicine

IS - 7

ER -

High-dose ERT, rituximab, and early HSCT in an infant with Wolman’s disease

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