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

NCT01822184 | Completed

• 1 other identifier: HGT-HIT-090
• Study Type: observational
• Target: 100
• Locations: 5 countries
• Sites: 7

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.

Conditions

Mucopolysaccharidosis (MPS); Hunter Syndrome

Keywords

Neurodevelopmental Status; Pediatric Hunter syndrome patients; Central Nervous System (CNS) involvement; Observational study; Cognitive impairment

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (3)

• Reported adverse events

  24 months

• Medication usage

  24 months

• Quality of life

  24 months

Study Arms (1)

No treatment

Observational non-treatment study

Eligibility Criteria

• Age: 2 Years - 18 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

• 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.

Sponsors & Collaborators

• Shire: lead

Study Sites (7)

Childrens Hospital & Research Center Oakland

Oakland, California, 94609, United States

Location

Ann & Robert H. Lurie Children's Hospital of Chicago

Chicago, Illinois, 60611, United States

Location

University of North Carolina Division of Genetics and Metabolism

Chapel Hill, North Carolina, 27514, United States

Location

Hospital Universitario Austral

Pilar, Buenos Aires, B1629ODT, Argentina

Location

Instituto Nacional De Pediatria

Mexico City, 04530, Mexico

Location

Hospital Infantil Universitario

Madrid, 28009, Spain

Location

Central Manchester University Hospitals NHS Foundation Trust Willink Biochemical Genetics Unit, St. Mary's Hospital

Manchester, M13 9WL, United Kingdom

Location

Related Publications (1)

• Muenzer J, Burton BK, Amartino HM, Harmatz PR, Gutierrez-Solana LG, Ruiz-Garcia M, Wu Y, Merberg D, Alexanderian D, Jones SA. Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study. Orphanet J Rare Dis. 2023 Nov 16;18(1):357. doi: 10.1186/s13023-023-02805-3.

  PMID: 37974184 DERIVED

Related Links

• To obtain more information on the study, click here/on this link.

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.

MeSH Terms

Conditions

Mucopolysaccharidoses; Mucopolysaccharidosis II; Margins of Excision; Cognitive Dysfunction

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Heredodegenerative Disorders, Nervous System; Morphological and Microscopic Findings; Pathological Conditions, Signs and Symptoms; Cognition Disorders; Neurocognitive Disorders; Mental Disorders

Study Officials

• Study Director

  Takeda

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 12, 2013
• First Posted: April 2, 2013
• Study Start: January 18, 2013
• Primary Completion: October 5, 2016
• Study Completion: October 5, 2016
• Last Updated: March 17, 2021

Record last verified: 2021-03

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF, CSR
• Access Criteria: IPD from eligible studies will be shared with qualified researchers according to the criteria and process described on https://vivli.org/ourmember/takeda/. For approved requests, the researchers will be provided access to anonymized data (to respect patient privacy in line with applicable laws and regulations) and with information necessary to address the research objectives under the terms of a data sharing agreement.

Locations

US (3); ES (1); ME (1); GB (1); AR (1)