Outcomes after Hematopoietic Stem Cell Transplantation for Children with I-Cell Disease

Troy C. Lund; Sara S. Cathey; Weston P. Miller; Mary Eapen; Martin Andreansky; Christopher C. Dvorak; Jeffrey H. Davis; Jignesh D. Dalal; Steven M. Devine; Gretchen M. Eames; William S. Ferguson; Roger H. Giller; Wensheng He; Joanne Kurtzberg; Robert Krance; Emmanuel Katsanis; Victor A. Lewis; Indira Sahdev; Paul J. Orchard

doi:10.1016/j.bbmt.2014.06.019

Outcomes after Hematopoietic Stem Cell Transplantation for Children with I-Cell Disease

Troy C. Lund, Sara S. Cathey, Weston P. Miller, Mary Eapen, Martin Andreansky, Christopher C. Dvorak, Jeffrey H. Davis, Jignesh D. Dalal, Steven M. Devine, Gretchen M. Eames, William S. Ferguson, Roger H. Giller, Wensheng He, Joanne Kurtzberg, Robert Krance, Emmanuel Katsanis, Victor A. Lewis, Indira Sahdev, Paul J. Orchard

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33 Scopus citations

Abstract

Mucolipidosis type II (MLII), or I-cell disease, is a rare but severe disorder affecting localization of enzymes to the lysosome, generally resulting in death before the 10th birthday. Although hematopoietic stem cell transplantation (HSCT) has been used to successfully treat some lysosomal storage diseases, only 2 cases have been reported on the use of HSCT to treat MLII. For the first time, we describe the combined international experience in the use of HSCT for MLII in 22 patients. Although 95% of the patients engrafted, overall survival was low, with only 6 patients (27%) alive at last follow-up. The most common cause of death post-transplant was cardiovascular complications, most likely due to disease progression. Survivors were globally delayed in development and often required complex medical support, such as gastrostomy tubes for nutrition and tracheostomy with mechanical ventilation. Although HSCT has demonstrated efficacy in treating some lysosomal storage disorders, the neurologic outcome and survival for patents with MLII were poor. Therefore, new medical and cellular therapies should be sought for these patients.

Original language	English (US)
Pages (from-to)	1847-1851
Number of pages	5
Journal	Biology of Blood and Marrow Transplantation
Volume	20
Issue number	11
DOIs	https://doi.org/10.1016/j.bbmt.2014.06.019
State	Published - Nov 1 2014

Keywords

Hematopoietic stem cell transplant
I-cell disease
Lysosomal storage disease
Mucolipidosis type II

ASJC Scopus subject areas

Hematology
Transplantation

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Lund, T. C., Cathey, S. S., Miller, W. P., Eapen, M., Andreansky, M., Dvorak, C. C., Davis, J. H., Dalal, J. D., Devine, S. M., Eames, G. M., Ferguson, W. S., Giller, R. H., He, W., Kurtzberg, J., Krance, R., Katsanis, E., Lewis, V. A., Sahdev, I., & Orchard, P. J. (2014). Outcomes after Hematopoietic Stem Cell Transplantation for Children with I-Cell Disease. Biology of Blood and Marrow Transplantation, 20(11), 1847-1851. https://doi.org/10.1016/j.bbmt.2014.06.019

Lund, TC, Cathey, SS, Miller, WP, Eapen, M, Andreansky, M, Dvorak, CC, Davis, JH, Dalal, JD, Devine, SM, Eames, GM, Ferguson, WS, Giller, RH, He, W, Kurtzberg, J, Krance, R, Katsanis, E, Lewis, VA, Sahdev, I & Orchard, PJ 2014, 'Outcomes after Hematopoietic Stem Cell Transplantation for Children with I-Cell Disease', Biology of Blood and Marrow Transplantation, vol. 20, no. 11, pp. 1847-1851. https://doi.org/10.1016/j.bbmt.2014.06.019

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abstract = "Mucolipidosis type II (MLII), or I-cell disease, is a rare but severe disorder affecting localization of enzymes to the lysosome, generally resulting in death before the 10th birthday. Although hematopoietic stem cell transplantation (HSCT) has been used to successfully treat some lysosomal storage diseases, only 2 cases have been reported on the use of HSCT to treat MLII. For the first time, we describe the combined international experience in the use of HSCT for MLII in 22 patients. Although 95% of the patients engrafted, overall survival was low, with only 6 patients (27%) alive at last follow-up. The most common cause of death post-transplant was cardiovascular complications, most likely due to disease progression. Survivors were globally delayed in development and often required complex medical support, such as gastrostomy tubes for nutrition and tracheostomy with mechanical ventilation. Although HSCT has demonstrated efficacy in treating some lysosomal storage disorders, the neurologic outcome and survival for patents with MLII were poor. Therefore, new medical and cellular therapies should be sought for these patients.",

keywords = "Hematopoietic stem cell transplant, I-cell disease, Lysosomal storage disease, Mucolipidosis type II",

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AU - Lund, Troy C.

AU - Cathey, Sara S.

AU - Miller, Weston P.

AU - Eapen, Mary

AU - Andreansky, Martin

AU - Dvorak, Christopher C.

AU - Davis, Jeffrey H.

AU - Dalal, Jignesh D.

AU - Devine, Steven M.

AU - Eames, Gretchen M.

AU - Ferguson, William S.

AU - Giller, Roger H.

AU - He, Wensheng

AU - Kurtzberg, Joanne

AU - Krance, Robert

AU - Katsanis, Emmanuel

AU - Lewis, Victor A.

AU - Sahdev, Indira

AU - Orchard, Paul J.

PY - 2014/11/1

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N2 - Mucolipidosis type II (MLII), or I-cell disease, is a rare but severe disorder affecting localization of enzymes to the lysosome, generally resulting in death before the 10th birthday. Although hematopoietic stem cell transplantation (HSCT) has been used to successfully treat some lysosomal storage diseases, only 2 cases have been reported on the use of HSCT to treat MLII. For the first time, we describe the combined international experience in the use of HSCT for MLII in 22 patients. Although 95% of the patients engrafted, overall survival was low, with only 6 patients (27%) alive at last follow-up. The most common cause of death post-transplant was cardiovascular complications, most likely due to disease progression. Survivors were globally delayed in development and often required complex medical support, such as gastrostomy tubes for nutrition and tracheostomy with mechanical ventilation. Although HSCT has demonstrated efficacy in treating some lysosomal storage disorders, the neurologic outcome and survival for patents with MLII were poor. Therefore, new medical and cellular therapies should be sought for these patients.

AB - Mucolipidosis type II (MLII), or I-cell disease, is a rare but severe disorder affecting localization of enzymes to the lysosome, generally resulting in death before the 10th birthday. Although hematopoietic stem cell transplantation (HSCT) has been used to successfully treat some lysosomal storage diseases, only 2 cases have been reported on the use of HSCT to treat MLII. For the first time, we describe the combined international experience in the use of HSCT for MLII in 22 patients. Although 95% of the patients engrafted, overall survival was low, with only 6 patients (27%) alive at last follow-up. The most common cause of death post-transplant was cardiovascular complications, most likely due to disease progression. Survivors were globally delayed in development and often required complex medical support, such as gastrostomy tubes for nutrition and tracheostomy with mechanical ventilation. Although HSCT has demonstrated efficacy in treating some lysosomal storage disorders, the neurologic outcome and survival for patents with MLII were poor. Therefore, new medical and cellular therapies should be sought for these patients.

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Outcomes after Hematopoietic Stem Cell Transplantation for Children with I-Cell Disease

Abstract

Keywords

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