Mucopolysaccharidosis II
Conditions
Keywords
Hunter Syndrome, Natural History, Iduronate-2-sulfatase, glycosaminoglycans
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.
Interventions
None listed
Sponsors
REGENXBIO Inc.
Study design
Observational model
OTHER
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
MALE
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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 |
Countries
Brazil, United Kingdom, United States
Outcome results
None listed