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 voor dit werk

Onderzoeksoutput: Article › Academic › peer review

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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.

Originele taal-2	English
Pagina's (van-tot)	623-629
Aantal pagina's	7
Tijdschrift	New England Journal of Medicine
Volume	390
Nummer van het tijdschrift	7
DOI's	https://doi.org/10.1056/NEJMoa2313398
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 KBLicentie: 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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doi = "10.1056/NEJMoa2313398",

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T1 - High-dose ERT, rituximab, and early HSCT in an infant with Wolman’s disease

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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U2 - 10.1056/NEJMoa2313398

DO - 10.1056/NEJMoa2313398

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AN - SCOPUS:85185348054

SN - 0028-4793

VL - 390

SP - 623

EP - 629

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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