Mucopolysaccharidosis Type II Natural History

Completed

• Conditions: Mucopolysaccharidosis II

• Registration Number: NCT03529786
• Lead Sponsor: REGENXBIO Inc.

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2017-09-27
• Study First Submitted: 2018-02-13
• Study First Submitted QC: 2018-05-07
• Study First Posted: 2018-05-18
• Primary Completion: 2022-03-22
• Study Completion: 2022-03-22
• Status Verified: 2022-04
• Last Update Submitted: 2022-04-22
• Last Update Posted: 2022-04-26

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Male
• Target Recruitment: 36

Inclusion Criteria

1. Documented diagnosis of MPS II confirmed by enzyme activity as measured in plasma, fibroblasts, or leukocytes

2. 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.

   1. Bayley Scales of Infant and Toddler Development (BSID), any version
   2. Differential Ability Scale (DAS), any version
   3. Griffiths Mental Development Scale (GMDS), any version
   4. Kaufman Assessment Battery for Children (KABC), any version
   5. Kinder Infant Development Scale (KIDS)
   6. Kyoto Scale of Psychological Development (KSPD), any version
   7. Leiter International Performance Scale (LIPS), any version
   8. Mullen Scales of Early Learning (MSEL), any version
   9. Vineland Adaptive Behavior Scales (VABS), any version
   10. Wechsler Intelligence Scale for Children (WISC), any version
   11. Wechsler Preschool and Primary Scale of Intelligence (WPPSI), any version

3. If the subject has undergone hematopoietic stem cell transplantation (HSCT), they must have at least one neurocognitive assessment prior to HSCT.

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Exclusion Criteria

Not provided

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Cognitive function over time, as indicated by results of neurocognitive measures documented in medical chart.	Up to 10 years old	There are 10 neurocognitive measures that provide intelligence quotients (IQ) scores and/or developmental quotients (DQ) scores.

Secondary Outcome Measures

Name	Time	Method
Prevalence of general organ involvement and specific characteristics of severe MPS II as documented in medical chart.	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
Age of onset of general organ involvement and specific characteristics of severe MPS II as documented in medical chart.	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

Trial Locations

Locations (3)

Hospital de Clinicas de Porto Alegre; 🇧🇷 Porto Alegre, RS, Brazil

Manchester Centre for Genomic Medicine; 🇬🇧 Manchester, United Kingdom

Children's Hospital of Pittsburgh - UPMC: Program for Neurodevelopment in Rare Disorders; 🇺🇸 Pittsburgh, Pennsylvania, United States