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®

• ClinicalTrials.gov Identifier: NCT00937794
• Recruitment Status: Completed
• First Posted: July 13, 2009
• Results First Posted: May 16, 2016
• Last Update Posted: June 14, 2021
• Sponsor: Shire
• Information provided by (Responsible Party): Takeda ( Shire )

Study Description

Brief Summary:

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.

Condition or disease	Intervention/treatment
Hunter Syndrome	Behavioral: Neurobehavioral testing; Other: Visual and auditory assessments

Study Design

• Study Type: Observational
• Actual Enrollment: 33 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• 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®
• Actual Study Start Date: July 2, 2009
• Actual Primary Completion Date: July 13, 2011
• Actual Study Completion Date: July 13, 2011

Groups and Cohorts

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.

Outcome Measures

Primary Outcome Measures :

1. Number of Participants Who Were Screened For The Follow-On Study With an Investigational Agent [ Time Frame: 1 month ]
   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.
2. Number of Participants With a Score of at Least 90 on The General Conceptual Ability (GCA) Sub-Scale of The Differential Ability Scale (DAS) [ Time Frame: 1 month ]
   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.

Eligibility Criteria

• Ages Eligible for Study: 32 Months to 18 Years (Child, Adult)
• Sexes Eligible for Study: Male
• Accepts Healthy Volunteers: No
• 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.

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.

Contacts and Locations

Locations

United States, North Carolina

University of North Carolina at Chapel Hill

Chapel Hill, North Carolina, United States, 27599

United Kingdom

Birmingham Children's Hospital

Birmingham, United Kingdom, B46NH

Sponsors and Collaborators

Shire

Investigators

• Study Director: Study Director; Takeda

More Information

• Responsible Party: Shire
• ClinicalTrials.gov Identifier: NCT00937794
• Other Study ID Numbers: HGT-HIT-050
• First Posted: July 13, 2009
• Results First Posted: May 16, 2016
• Last Update Posted: June 14, 2021
• Last Verified: May 2021

Additional relevant MeSH terms:

Mucopolysaccharidosis II; Syndrome; Disease; Pathologic Processes; Mental Retardation, X-Linked; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Heredodegenerative Disorders, Nervous System; Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Metabolic Diseases