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

Extension of Study HGT-HIT-094 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction with Elaprase® in 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 developed for delivery directly into cerebrospinal fluid rather than intravenously.

Study Level: Phase II/III

Eligibility Criteria

The study accepts male patients up to age 18, diagnosed with MPS II with evidence of illness related cognitive impairment and who completed the week-52 assessment of the study HGT-HIT-094 by the study sponsor.
Males: Up to age 18


Participants will continue to receive intrathecal (IT) idursulfase once every 28 days in addition to their regular IV Elaprase therapy, which will continue to be administered weekly as part of their standard care at a site chosen by the family and treating doctor. At intervals defined by the study protocol, imaging and lab work will required, and doctors will complete neurodevelopmental and other assessments.
Visits: Up to 60
Duration: Up to 5 years

Status: Enrolling by Invitation

Source(s) of Support

Shire Human Genetic Therapies, Inc.

Primary Investigator

Gerard Vockley, MD, PhD

Contact Information

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