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®

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®

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.

Study Overview

• Status: Completed
• Conditions: Hunter Syndrome
• Intervention / Treatment: Behavioral: Neurobehavioral testing; Other: Visual and auditory assessments

• Study Type: Observational
• Enrollment (Actual): 33

Contacts and Locations

Study Locations

• United Kingdom
  • Birmingham, United Kingdom, B46NH
    • Birmingham Children's Hospital
• United States
  • North Carolina
    • Chapel Hill, North Carolina, United States, 27599
      • University of North Carolina at Chapel Hill

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 2 years to 18 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Male

• Sampling Method: Non-Probability Sample

Study Population

Initial patient eligibility will be based on patient age and gender. Patients must be receiving weekly IV Elaprase infusions to be eligible for enrollment.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

Intervention / Treatment

No treatment; This is a screening study designed to evaluate the behavioral, physical, and neurodevelopmental status in pediatric patients with Hunter syndrome who have early signs and symptoms of CNS involvement and who are currently receiving treatment with Elaprase.

Behavioral: Neurobehavioral testing; If the patient is found to be eligible after completion of a telephone interview, he will undergo further testing to assess his neurodevelopmental status using a standardized battery of neurobehavioral testing.; Other: Visual and auditory assessments; If the patient is found to be eligible after completion of a telephone interview, he will undergo further testing to evaluate his visual and auditory function.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Number of Participants Who Were Screened For The Follow-On Study With an Investigational Agent	Standardized tests were used to identify patients who were receiving treatment with Elaprase, had cognitive impairment, and were suitable to participate in the follow-on clinical study (HGT-HIT-045). Assessments included: 1-Cognition: The Differential Ability Scale, Second Edition (DAS-II) or the Bayley Scales of Infant Development, Third Edition (BSID-III); 2-Adaptive Behavior: The Scale of Independent Behavior-Revised (SIB-R); 3-Executive Function: The Behavior Rating Inventory of Executive Function-Preschool version (BRIEF-P) for children or the Behavior Rating Inventory of Executive Function (BRIEF) for children less than or ≥6 years of age, respectively; 4-Motor: The Peabody Developmental Motor Scales-2 (PDMS-2) or the Bruininks-Oseretsky Test of Motor Proficiency, Second Edition (BOT-2) for children less than or ≥6 years of age, respectively.	1 month
Number of Participants With a Score of at Least 90 on The General Conceptual Ability (GCA) Sub-Scale of The Differential Ability Scale (DAS)	The GCA sub-scale of the DAS, Second Edition (DAS-II) was used to obtain a general measure of cognitive ability.The maximum score is 120, with a higher score indicating greater cognitive ability. A score of 100 is considered an average score.	1 month

Collaborators and Investigators

• Sponsor: Shire

Study record dates

Study Major Dates

• Study Start (Actual): July 2, 2009
• Primary Completion (Actual): July 13, 2011
• Study Completion (Actual): July 13, 2011

Study Registration Dates

• First Submitted: July 9, 2009
• First Submitted That Met QC Criteria: July 10, 2009
• First Posted (Estimate): July 13, 2009

Study Record Updates

• Last Update Posted (Actual): June 14, 2021
• Last Update Submitted That Met QC Criteria: May 18, 2021
• Last Verified: May 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Metabolic Diseases; Nervous System Diseases; Neurologic Manifestations; Neurobehavioral Manifestations; Disease; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Connective Tissue Diseases; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Mental Retardation, X-Linked; Intellectual Disability; Heredodegenerative Disorders, Nervous System; Mucopolysaccharidoses; Syndrome; Mucopolysaccharidosis II
• Other Study ID Numbers: HGT-HIT-050