Mucopolysaccharidosis Type II Natural History

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

36 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-09-27

Study Completion Date

2022-03-22

Brief Summary

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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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Detailed Description

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Conditions

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Mucopolysaccharidosis II

Study Design

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Observational Model Type

OTHER

Study Time Perspective

RETROSPECTIVE

Study Groups

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Retrospective

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

No interventions assigned to this group

Eligibility Criteria

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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.

Eligible Sex

MALE

Accepts Healthy Volunteers

No