title: Outcomes after hematopoietic stem cell transplantation for children with I-cell disease.
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.
authors.affiliation: Division of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, Minnesota. Electronic address: lundx072@umn.edu.
authors.forename: Troy C
authors.initials: TC
authors.lastname: Lund
authors.affiliation: Greenwood Genetic Center, Greenwood, South Carolina.
authors.forename: Sara S
authors.initials: SS
authors.lastname: Cathey
authors.affiliation: Division of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, Minnesota.
authors.forename: Weston P
authors.initials: WP
authors.lastname: Miller
authors.affiliation: Center for International Blood and Marrow Transplant Research, Department of Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin.
authors.forename: Mary
authors.initials: M
authors.lastname: Eapen
authors.affiliation: Division of Pediatric Hematology/Oncology, University of Miami, Jackson Memorial Hospital, Miami, Florida.
authors.forename: Martin
authors.initials: M
authors.lastname: Andreansky
authors.affiliation: Department of Pediatrics, University of California San Francisco Medical Center, San Francisco, California.
authors.forename: Christopher C
authors.initials: CC
authors.lastname: Dvorak
authors.affiliation: Department of Pediatrics/BMT Service, British Columbia Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
authors.forename: Jeffrey H
authors.initials: JH
authors.lastname: Davis
authors.affiliation: Department of BMT, The Children's Mercy Hospital and Clinics, Kansas City, Missouri.
authors.forename: Jignesh D
authors.initials: JD
authors.lastname: Dalal
authors.affiliation: Division of Hematology, James Cancer Center, Ohio State Medical Center, Columbus, Ohio.
authors.forename: Steven M
authors.initials: SM
authors.lastname: Devine
authors.affiliation: Hematology and Oncology Center, Cook Children's Medical Center, Fort Worth, Texas.
authors.forename: Gretchen M
authors.initials: GM
authors.lastname: Eames
authors.affiliation: Department of Hematology/Oncology, Cardinal Glennon Children's Medical Center, and St. Louis Cord Blood Bank, St. Louis, Missouri.
authors.forename: William S
authors.initials: WS
authors.lastname: Ferguson
authors.affiliation: Section of Hematology, Oncology and BMT, Department of Pediatrics, Children's Hospital Colorado, University of Colorado, Aurora, Colorado.
authors.forename: Roger H
authors.initials: RH
authors.lastname: Giller
authors.affiliation: Center for International Blood and Marrow Transplant Research, Department of Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin.
authors.forename: Wensheng
authors.initials: W
authors.lastname: He
authors.affiliation: Department of Pediatrics, Duke University Medical Center, and Pediatric Blood and Marrow Transplant Program, Carolinas Cord Blood Bank, Durham, North Carolina.
authors.forename: Joanne
authors.initials: J
authors.lastname: Kurtzberg
authors.affiliation: Section of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine and the Center for Cell and Gene Therapy, Houston, Texas.
authors.forename: Robert
authors.initials: R
authors.lastname: Krance
authors.affiliation: Department of Pediatrics, University of Arizona Medical Center, Tucson, Arizona.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Katsanis
authors.affiliation: Department of Hematology/Oncology/Transplant Program, Alberta Children's Hospital, Calgary, Alberta, Canada.
authors.forename: Victor A
authors.initials: VA
authors.lastname: Lewis
authors.affiliation: Division of Pediatric Hematology/Oncology/Stem Cell Transplantation, Cohen Children's Medical Center of New York, New Hyde Park, New York.
authors.forename: Indira
authors.initials: I
authors.lastname: Sahdev
authors.affiliation: Division of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, Minnesota.
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Orchard
mesh_terms: D002675:Child, Preschool; D003625:Data Collection; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007223:Infant; D009081:Mucolipidoses / Q000628:therapy*; D011795:Surveys and Questionnaires; D019172:Transplantation Conditioning / Q000379:methods*; D016896:Treatment Outcome
keywords: Hematopoietic stem cell transplant; I-cell disease; Lysosomal storage disease; Mucolipidosis type II