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NCT Number: NCT03529786

Mucopolysaccharidosis Type II Natural History

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.

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Key information

Conditions

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

Sex eligibility

Male

Study type

Observational

Primary location

Hospital de Clinicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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.

Treatment and study plan

Primary outcomes

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

    Time frame: Up to 10 years old

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

Secondary outcomes

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

    Time frame: Up to 10 years old

    Documentation in medical chart regarding date and age of onset of:

    Disease Characteristics, General Appearance, Neurologic/Psychiatric, Cardiovascular, Ocular, Musculoskeletal, Auditory, Respiratory, Gastroenterology/Urinary, Interventional Medications, Other Interventions, ER and Hospitalization History, MRI History, ECG History

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

    Time frame: Up to 10 years old

    Documentation in medical chart regarding date and age of onset of:

    Disease Characteristics, General Appearance, Neurologic/Psychiatric, Cardiovascular, Ocular, Musculoskeletal, Auditory, Respiratory, Gastroenterology/Urinary, Interventional Medications, Other Interventions, ER and Hospitalization History, MRI History, ECG History

Sponsors and collaborators

Lead sponsor

REGENXBIO Inc.

Industry

Registry information

Official study title

A Retrospective and Cross-sectional Study to Evaluate Neurodevelopmental Status in Pediatric Subjects With Severe Mucopolysaccharidosis Type II (Hunter Syndrome)

Important dates

Study start
2017
Primary completion
2022
Study completion
2022
First posted
May 18, 2018
Registry last updated
Apr 26, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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