Mucopolysaccharidosis Type II Natural History

NCT03529786 | Completed

• 1 other identifier: RGX-121-002
• Study Type: observational
• Target: 36
• Locations: 3 countries
• Sites: 3

Brief Summary

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is caused by a deficiency of iduronate-2-sulfatase (IDS) leading to an accumulation of glycosaminoglycans (GAGs) in tissues of MPS II patients, resulting in characteristic storage lesions and diverse disease sequelae, and in patients with the more severe form of the disease, irreversible neurocognitive decline and higher morbidity and mortality than in patients with the attenuated form of the disease. There is currently limited information on the natural history of MPS II, especially with respect to neurocognitive decline in patients with the more severe form of the disease. This study is planned to be an observational medical records review study (data collected retrospectively and no investigational product treatment or procedures) in subjects with the severe form of MPS II. Collectively, the data may inform the design of future MPS II gene therapy treatment studies and may be utilized as historical comparative control data.

Conditions

Mucopolysaccharidosis II

Keywords

Hunter Syndrome; Natural History; Iduronate-2-sulfatase; glycosaminoglycans

Outcome Measures

Primary Outcomes (1)

• Cognitive function over time, as indicated by results of neurocognitive measures documented in medical chart.

  There are 10 neurocognitive measures that provide intelligence quotients (IQ) scores and/or developmental quotients (DQ) scores.

  Up to 10 years old

Secondary Outcomes (2)

• Prevalence of general organ involvement and specific characteristics of severe MPS II as documented in medical chart.

  Up to 10 years old

• Age of onset of general organ involvement and specific characteristics of severe MPS II as documented in medical chart.

  Up to 10 years old

Study Arms (1)

Retrospective

An observational medical records review study (data collected retrospectively) in subjects with the severe form of MPS II.

Eligibility Criteria

• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Children diagnosed with Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome

You may qualify if:

• Documented diagnosis of MPS II confirmed by enzyme activity as measured in plasma, fibroblasts, or leukocytes
• The subject has at least one of the neurocognitive assessments listed below, which occurred prior to age 6 and in or after 2006 in their medical records.
• Bayley Scales of Infant and Toddler Development (BSID), any version
• Differential Ability Scale (DAS), any version
• Griffiths Mental Development Scale (GMDS), any version
• Kaufman Assessment Battery for Children (KABC), any version
• Kinder Infant Development Scale (KIDS)
• Kyoto Scale of Psychological Development (KSPD), any version
• Leiter International Performance Scale (LIPS), any version
• Mullen Scales of Early Learning (MSEL), any version
• Vineland Adaptive Behavior Scales (VABS), any version
• Wechsler Intelligence Scale for Children (WISC), any version
• Wechsler Preschool and Primary Scale of Intelligence (WPPSI), any version
• If the subject has undergone hematopoietic stem cell transplantation (HSCT), they must have at least one neurocognitive assessment prior to HSCT.

Sponsors & Collaborators

• REGENXBIO Inc.: lead

Study Sites (3)

Children's Hospital of Pittsburgh - UPMC: Program for Neurodevelopment in Rare Disorders

Pittsburgh, Pennsylvania, 15224, United States

Location

Hospital de Clinicas de Porto Alegre

Porto Alegre, Rio Grande do Sul, 90035-903, Brazil

Location

Manchester Centre for Genomic Medicine

Manchester, United Kingdom

Location

MeSH Terms

Conditions

Mucopolysaccharidosis II; Sudden Infant Death

Condition Hierarchy (Ancestors)

X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System; Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Death, Sudden; Death; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Infant Death

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: RETROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 13, 2018
• First Posted: May 18, 2018
• Study Start: September 27, 2017
• Primary Completion: March 22, 2022
• Study Completion: March 22, 2022
• Last Updated: April 26, 2022

Record last verified: 2022-04

Locations

GB (1); US (1); BR (1)