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. 2014 Nov;20(11):1847-51.
doi: 10.1016/j.bbmt.2014.06.019. Epub 2014 Jul 10.

Outcomes after hematopoietic stem cell transplantation for children with I-cell disease

Troy C Lund  1 , Sara S Cathey  2 , Weston P Miller  3 , Mary Eapen  4 , Martin Andreansky  5 , Christopher C Dvorak  6 , Jeffrey H Davis  7 , Jignesh D Dalal  8 , Steven M Devine  9 , Gretchen M Eames  10 , William S Ferguson  11 , Roger H Giller  12 , Wensheng He  4 , Joanne Kurtzberg  13 , Robert Krance  14 , Emmanuel Katsanis  15 , Victor A Lewis  16 , Indira Sahdev  17 , Paul J Orchard  3
Affiliations

Outcomes after hematopoietic stem cell transplantation for children with I-cell disease

Troy C Lund et al. Biol Blood Marrow Transplant. 2014 Nov.

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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Figures

Figure 1
Figure 1
Kaplan-Meier estimate of overall survival in I-Cell patients after transplant.
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