Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)

Sponsor

Shire (Industry)

Overall Status

Completed

CT.gov ID

NCT01822184

Collaborator

(none)

100

Enrollment

Locations

44.6

Actual Duration (Months)

14.3

Patients Per Site

0.3

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

Hunter syndrome (Mucopolysaccharidosis II, [MPS II]) is a rare, genetically linked lysosomal storage disease (LSD) caused by deficiency of the enzyme, iduronate-2-sulfatase (I2S). Most MPS II patients will present with some degree of neurodevelopmental involvement, ranging from severe cognitive impairment and behavioral problems to mildly impaired cognition. This is an observational study; no investigational treatment will be administered. The primary objective of this study is to evaluate the neurodevelopmental status of pediatric patients with MPS II over time and to gain information to guide future treatment studies in this patient population.

Condition or Disease	Intervention/Treatment	Phase
Mucopolysaccharidosis (MPS) Hunter Syndrome

Study Design

Study Type:

Observational

Actual Enrollment :

100 participants

Observational Model:

Cohort

Time Perspective:

Prospective

Official Title:

A Prospective, Longitudinal, Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)

Actual Study Start Date :

Jan 18, 2013

Actual Primary Completion Date :

Oct 5, 2016

Actual Study Completion Date :

Oct 5, 2016

Arms and Interventions

Arm	Intervention/Treatment
No treatment Observational non-treatment study

Outcome Measures

Primary Outcome Measures

Neurodevelopmental parameters of cognitive function over time in pediatric patients with MPS II [24 months]
Neurodevelopmental parameters of adaptive function over time in pediatric patients with MPS II [24 months]

Secondary Outcome Measures

Reported adverse events [24 months]
Type and severity measurements
Medication usage [24 months]
Quality of life [24 months]

Eligibility Criteria

Criteria

Ages Eligible for Study:

2 Years to 18 Years

Sexes Eligible for Study:

Male

Accepts Healthy Volunteers:

Inclusion Criteria:

Patients must meet all of the following criteria to be considered eligible for enrollment:

1. The patient has a deficiency in iduronate-2-sulfatase enzyme activity AND b. The patient has a documented mutation in the iduronate-2-sulfatase gene. OR c. The patient has a normal enzyme activity level of one other sulfatase
The patient is male, and is at least 2 years of age and less than 18 years of age at the time of informed consent.
The patient must have sufficient auditory capacity at enrollment, with or without hearing aids, in the Investigator's judgment to complete the required protocol testing, and be compliant with wearing the aids on scheduled study visits.
The patient, patient's parent(s), or legally authorized guardian(s) has voluntarily signed an Institutional Review Board / Independent Ethics Committee-approved informed consent and/or assent form(s), as applicable.

Exclusion Criteria:

Patients who meet any of the following criteria will be excluded from the study.

The patient has clinically significant non-Hunter syndrome-related CNS involvement or medical or psychiatric comorbidity(ies) which, in the investigator's judgment, may interfere with the accurate administration and interpretation of protocol assessments, affect study data, or confound the integrity of study results.
The patient has a general conceptual ability score (GCA) or a developmental quotient on the cognitive scale below 55 at Screening.
The patient is participating in an interventional clinical trial or has participated in an interventional clinical trial within 30 days prior to enrollment; participation in non interventional observational studies is permitted.

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Childrens Hospital & Research Center Oakland	Oakland	California	United States	94609
2	Ann & Robert H. Lurie Children's Hospital of Chicago	Chicago	Illinois	United States	60611
3	University of North Carolina Division of Genetics and Metabolism	Chapel Hill	North Carolina	United States	27514
4	Hospital Universitario Austral	Pilar	Buenos Aires	Argentina	B1629ODT
5	Instituto Nacional De Pediatria	Mexico City		Mexico	04530
6	Hospital Infantil Universitario	Madrid		Spain	28009
7	Central Manchester University Hospitals NHS Foundation Trust Willink Biochemical Genetics Unit, St. Mary's Hospital	Manchester	M13 9wl	United Kingdom