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

This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2014 by Shire
Sponsor:
Information provided by (Responsible Party):
Shire
ClinicalTrials.gov Identifier:
NCT01822184
First received: March 12, 2013
Last updated: November 20, 2014
Last verified: November 2014
  Purpose

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
Mucopolysaccharidosis II
MPS II
Hunter Syndrome

Study Type: Observational
Study Design: 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)

Resource links provided by NLM:


Further study details as provided by Shire:

Primary Outcome Measures:
  • Neurodevelopmental parameters of cognitive function over time in pediatric patients with MPS II [ Time Frame: 24 months ] [ Designated as safety issue: No ]
  • Neurodevelopmental parameters of adaptive function over time in pediatric patients with MPS II [ Time Frame: 24 months ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Reported adverse events [ Time Frame: 24 months ] [ Designated as safety issue: Yes ]
    Type and severity measurements

  • Medication usage [ Time Frame: 24 months ] [ Designated as safety issue: Yes ]
  • Quality of life [ Time Frame: 24 months ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA

Genotyping of the iduronate-2-sulfatase gene will be required ONLY for those patients who have not had a previous genotyping sample analysis performed at the selected diagnostic laboratory.


Estimated Enrollment: 52
Study Start Date: January 2013
Estimated Study Completion Date: December 2016
Estimated Primary Completion Date: June 2016 (Final data collection date for primary outcome measure)
Groups/Cohorts
No treatment
Observational non-treatment study

  Eligibility

Ages Eligible for Study:   2 Years to 18 Years
Genders Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population

Male MPS II patients between 2<18 years of age at time of informed consent

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01822184

Contacts
Contact: Ann Barbier, MD, PhD +1-781-482-9282 abarbier@shire.com

Locations
United States, California
Childrens Hospital & Research Center Oakland Recruiting
Oakland, California, United States, 94609
Contact: Jacqueline Madden, PNP    510-428-3885 ext 5745    jmadden@mail.cho.org   
United States, Illinois
Ann & Robert H. Lurie Children's Hospital of Chicago Recruiting
Chicago, Illinois, United States, 60611
Contact: Rachel Katz, MSW, LSW    312-227-6764    rkatz@luriechildrens.org   
United States, North Carolina
University of North Carolina Division of Genetics and Metabolism Recruiting
Chapel Hill, North Carolina, United States, 27514
Contact: Heather Preiss, RN    919-843-5731    Heather_Preiss@med.unc.edu   
Argentina
Hospital Universitario Austral Recruiting
Pilar, Buenos Aires, Argentina, B1629ODT
Contact: Gonzalo Fabro    +54 0230-448283    gfabro@cas.austral.edu.ar   
Mexico
Instituto Nacional De Pediatria Not yet recruiting
Mexico City, Mexico, 04530
Contact: Dámaris Sánchez    +52 55 108 40 900    zefiro728@hotmail.com   
Spain
Hospital Infantil Universitario Recruiting
Madrid, Spain, 28009
Contact: Laura Lopez Marin, MD    +34 650024876    lauralmarin@hotmail.com   
United Kingdom
Central Manchester University Hospitals NHS Foundation Trust Willink Biochemical Genetics Unit, St. Mary's Hospital Recruiting
Manchester, M13 9wl, United Kingdom
Contact: Michelle Hepburn    44 (0)161 701 8313    Michelle.Hepburn@wtcrf.nhs.uk   
Sponsors and Collaborators
Shire
Investigators
Study Director: Anne Barbier, MD, PhD Shire Human Genetic Therapies
  More Information

No publications provided

Responsible Party: Shire
ClinicalTrials.gov Identifier: NCT01822184     History of Changes
Other Study ID Numbers: HGT-HIT-090
Study First Received: March 12, 2013
Last Updated: November 20, 2014
Health Authority: United States: Institutional Review Board

Keywords provided by Shire:
Central Nervous System (CNS) involvement
Neurodevelopmental Status
Cognitive impairment
Pediatric Hunter syndrome patients
Observational study

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

ClinicalTrials.gov processed this record on November 27, 2014