Work

Combined home enzyme replacement therapy and unrelated cord blood transplantation for Hurler’s syndrome (MPSI) in a pediatric HSCT center

Year: 2005

Type: article

Abstract: Hurler’s syndrome is caused by mutations in the alpha iduronidase gene and results in progressive deterioration of the central nervous system. Allogeneic bone marrow transplantation before age 2 years halts disease progression and prolongs life. Enzyme replacement therapy (ERT) reduces lysosomal storage of mucopolysaccharides in the liver and ameliorates extracranial manifestations of the disease. In most instances, ERT is done in a day-hospital setting. Because enzyme replacement therapy can mitigate airway and pulmonary manifestation of MPS I, we hypothesized that ERT in the peritransplantation period (pre-HSCT and immediately post-HSCT) would decrease transplantation-related complications. We performed combined ERT and HSCT in a 12-month-old boy with MPSI. The patient received his first dose of Aldurazyme at age 5 months, shortly after MPSI diagnosis. He had received 16 infusions before referral to our center. Throughout his pretransplantation workup, the patient received ERT at the local Transplantation House by a visiting nurse. There were no infusion-related toxicities. The patient received a 5/6 unrelated cord blood unit and engrafted on day +12. Hyperacute GVHD was treated successfully with high-dose methylprednisolone pulse. After engraftment, the child received 8 additional doses of Aldurazyme. Four initial infusions were performed in the pediatric bone marrow transplantation unit following in-service by pediatric BMT nurse and pediatric BMT pharmacist. The remainder of his 4 infusions were performed at the local Transplantation House. We conclude that in this first case of combined outpatient ERT infusion with HSCT, pretransplantation and posttransplantation ERT does not interfere with engraftment. Further studies are needed to determine whether progressive neurodegeneration is altered.

Source: Transplantation and Cellular Therapy

DOI: 10.1016/j.bbmt.2004.12.286