A Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase�

Condition(s) targeted: Hunter Syndrome

Intervention: Neurobehavioral testing (Behavioral); Visual and auditory assessments (Other)

Phase: N/A

Status: Recruiting

Sponsored by: Shire Human Genetic Therapies, Inc.

Official(s) and/or principal investigator(s):
Joseph Muenzer, MD, PhD, Principal Investigator, Affiliation: University of North Carolina, Chapel Hill

Overall contact:
Ann Barbier, MD, PhD, Phone: 781-482-9282, Email: abarbier@shire.com

This study is being conducted to identify pediatric patients with Hunter syndrome who have neurodevelopmental disease characteristics, who are currently receiving treatment with Elaprase, and who may be suitable to participate in a clinical study with an investigational agent.

Official title: A Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System Involvement and Who Are Currently Receiving Treatment With Elaprase®

Study design: Observational Model: Cohort, Time Perspective: Prospective

Primary outcome: To determine the neurodevelopmental status, including hearing ability, in a population of pediatric patients with Hunter syndrome who have demonstrated early cognitive impairment and who are receiving weekly infusions of Elaprase.

Minimum age: 32 Months. Maximum age: 18 Years. Gender(s): Male.

Criteria:

Inclusion Criteria:

1. The patient is male and is ≥3 and <18 years of age

2. The patient is currently receiving weekly IV infusions of Elaprase.

3. The patient, patient's parent(s), or legally authorized guardian(s) has voluntarily signed an Institutional Review Board / Independent Ethics Committee-approved informed consent form after all relevant aspects of the study have been explained and discussed with the patient. The guardians' consent and subject's assent, as relevant, must be obtained.

Exclusion Criteria:

1. The patient has a CNS shunt.

2. The patient has received a hematopoietic stem cell transplant.

3. The patient is currently enrolled in a clinical trial.

4. The patient has a significant medical or psychiatric comorbidity(ies) that might affect study data or confound the integrity of study results.

Ann Barbier, MD, PhD, Phone: 781-482-9282, Email: abarbier@shire.com

University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, United States; Recruiting

Starting date: July 2009
Last updated: October 6, 2011