MPS II (Hunter Syndrome) Treatment with Idursulfase-IT and Elaprase – Phase I/II

Extension of Study HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction with Intravenous Elaprase® in Pediatric Patients with Hunter Syndrome and Cognitive Impairment

Protocol Description

Through this study researchers are evaluating the effects of adding the investigational drug idursulfase-IT to therapy with Elaprase® on the neurodevelopment of pediatric patients with mucopolysaccharidosis type II (MPS II), also called Hunter syndrome, over an extended period. Approximately two thirds of patients with Hunter syndrome develop problems associated with accumulation of mucopolysaccharides in the central nervous system. Patients with this severe form of Hunter syndrome typically do not develop normal abilities with language, learning and other normal tasks. Idursulfase-IT is a new formulation of the enzyme replacement therapy Elaprase and was developed for delivery directly into cerebrospinal fluid rather than intravenously.

Study Level: Phase I/II

Eligibility Criteria

The study accepts male patients, 3 to 18 years of age, diagnosed with MPS II with evidence of illness related cognitive impairment who were enrolled for 12 months in a prior related program (protocol HGT-HIT-045) by the study sponsor.
Males: Ages 3 years to 18


Participants will receive monthly intrathecal (IT) administration of idursulfase in addition to weekly intravenous infusions of Elaprase. IT delivers the study drug directly to the fluid surrounding the spinal cord and is done through an access port and tube study doctors place under the skin of participants.
Visits: Weekly for Elaprase regimen, with idursulfase-IT infusions once a month
Duration: 30 months

Status: Closed to Enrollment

Source(s) of Support

Shire Human Genetic Therapies

Primary Investigator

Gerard Vockley, MD, PhD

Contact Information

For more information about the study or enrollment, please contact:
Sandra Braden, RN, BSN