Clinical trial NCT01822184: Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)
Official title: A Prospective, Longitudinal, Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Mucopolysaccharidosis (MPS)
Hunter Syndrome
Keywords: Neurodevelopmental Status
Pediatric Hunter syndrome patients
Central Nervous System (CNS) involvement
Observational study
Cognitive impairment
Lead sponsor: Takeda
Sponsor class: INDUSTRY
First posted: 2013-04-02
Enrollment: 100
Sex: MALE
Minimum age (years): 2
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Male MPS II patients between 2\<18 years of age at time of informed consent

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.


Eligibility criteria: Inclusion Criteria:

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

1. a. 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
2. 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.
3. 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.
4. 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.

1. 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.
2. The patient has a general conceptual ability score (GCA) or a developmental quotient on the cognitive scale below 55 at Screening.
3. 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.

Primary outcomes:
measure: Neurodevelopmental parameters of cognitive function over time in pediatric patients with MPS II
timeFrame: 24 months
measure: Neurodevelopmental parameters of adaptive function over time in pediatric patients with MPS II
timeFrame: 24 months
Secondary outcomes:
measure: Reported adverse events
timeFrame: 24 months
measure: Medication usage
timeFrame: 24 months
measure: Quality of life
timeFrame: 24 months
Other outcomes:
Locations:
city: Oakland
country: United States
facility: Childrens Hospital & Research Center Oakland
state: California
city: Chicago
country: United States
facility: Ann & Robert H. Lurie Children's Hospital of Chicago
state: Illinois
city: Chapel Hill
country: United States
facility: University of North Carolina Division of Genetics and Metabolism
state: North Carolina
city: Pilar
country: Argentina
facility: Hospital Universitario Austral
state: Buenos Aires
city: Mexico City
country: Mexico
facility: Instituto Nacional De Pediatria
city: Madrid
country: Spain
facility: Hospital Infantil Universitario
city: Manchester
country: United Kingdom
facility: Central Manchester University Hospitals NHS Foundation Trust Willink Biochemical Genetics Unit, St. Mary's Hospital
state: M13 9wl
Study officials:
affiliation: Takeda
name: Study Director
role: STUDY_DIRECTOR
References: